Leber's hereditary optic neuropathy (LHON) causes acute or subacute central visual loss in health... more Leber's hereditary optic neuropathy (LHON) causes acute or subacute central visual loss in healthy young males. Recently, it has been thought to be caused by a single nucleotide change in the ND4 gene in the mitochondrial genome. Mitochondrial DNA (mtDNA) of leukocytes and hair follicle cells from five patients in four families with LHON and nine relatives were analyzed by Sfa NI and Mae III enzyme digestion and DNA sequencing. Loss of Sfa NI site was found in all patients and maternal lineages but not in nonmaternal lineages and normal controls. Mae III digested all the mtDNAs that lost the Sfa NI site. The restriction fragment pattern of polymerase chain reaction (PCR) products exhibited mtDNA heteroplasmy in the hair follicle cells but not in blood cells of the proband in one family. Direct sequencing of PCR-amplified mtDNA fragments encompassing the ND4 gene of the patients disclosed a transition from guanine to adenine at nucleotide position 11778. These results confirm previous reports that a G to A point mutation is associated with LHON and that tissue variability and heteroplasmy of mtDNA exist in some, but not all, LHON patients.
Background: The most common pathogenic mitochondrial DNA (mtDNA) mutation associated with Leber's... more Background: The most common pathogenic mitochondrial DNA (mtDNA) mutation associated with Leber's hereditary optic neuropathy (LHON) is at the 11,778 nucleotide (nt) position and is usually detected by loss of an Sfa NI restriction site. However, Sfa NI restriction site includes five nucleotides. Substitution of any of the five nucleotides leads to loss of the cutting site and causes a false-positive result. We investigated the false-positive diagnosis of LHON by loss of the Sfa NI restriction site using Sfa NI restriction site analysis and single-strand conformation polymorphism (SSCP) analysis. Methods: Mae III restriction analysis for double confirmation of the Sfa NI restriction site and direct sequencing for final confirmation of SSCP analysis were performed. Results: The sensitivity of Sfa NI test was 100% and the specificity of the Sfa NI test was 97%. The false-positive rate of Sfa NI test was 3%. SSCP analysis showed 100% sensitivity. Direct sequencing showed 32 patients had a mutation at nt 11,778 of mtDNA and one patient had a silent mutation at nt 11,782 of mtDNA. Conclusions: These results suggest that restriction enzyme digestion analysis requires double confirmation to avoid a false-positive diagnosis and that DNA sequencing is needed for the confirmation of the mutation detected by SSCP.
Leber&amp... more Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease characterized by acute or subacute visual loss predominantly affecting young men. The majority of LHON cases are caused by one of the three primary mitochondrial DNA (mtDNA) mutations: G3460A/ND1, G11778A/ND4, or T14484C/ND6. Although the primary etiological factor of LHON is a mtDNA mutation, the presence of a primary mtDNA mutation does not necessarily lead to visual loss. The pathogenesis of LHON remains unclear. The marked incomplete penetrance and gender bias indicate that additional genetic (nuclear or mitochondrial) and epigenetic factors may also be involved. Deficiency in respiratory chain function and reactive oxygen species (ROS) are believed to play a pivotal role in the pathophysiology of the disease.
A defect in mitochondrial energy conservation is strongly suggested to be involved in the pathoge... more A defect in mitochondrial energy conservation is strongly suggested to be involved in the pathogenesis of Leber's hereditary optic neuropathy (LHON). The authors therefore compared the energy charge in lymphocytes among patients with LHON, their asymptomatic maternal lineages, and normal control subjects. Blood samples were obtained from 7 patients, 10 asymptomatic maternal relatives, and 16 normal subjects. Molecular analysis confirmed that all had the homoplasmic 11,778 point mutation in the mtDNA of their blood cells. The concentrations of adenosine triphosphate (ATP), diphosphate (ADP), and monophosphate (AMP) were determined by high-performance liquid chromatography. The energy charge was calculated as (ATP + 1/2 ADP)/(ATP + ADP + AMP). The mean energy charges of lymphocytes were 0.871 +/- 0.049 in patients with LHON, 0.884 +/- 0.061 in their asymptomatic maternal relatives, and 0.885 +/- 0.061 in normal controls, respectively. No statistically significant difference was found among the three groups. Although the study did not find the anticipated change in energy charge in peripheral blood cells, this neither confirms nor rejects the notion that a defect in the mitochondrial oxidative phosphorylation system is involved in the pathogenesis of LHON.
ABSTRACT To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients w... more ABSTRACT To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON), optic atrophy of unknown etiology, and optic neuropathy of known etiology. Twenty-seven patients from 25 LHON pedigrees, 22 patients with bilateral optic atrophy of unknown etiology, 21 patients with optic neuropathy of known etiology, and 25 normal healthy controls were included in this study. Twelve pairs of primers that covered the 21 reported mtDNA mutations were utilized. Single-strand conformation polymorphism analysis and DNA sequencing were used to detect base substitutions in mtDNA. Twenty-three LHON pedigrees (92%) had the 11778 mtDNA primary mutation. Two pedigrees (8%) had the 14484 mutation. No 3460 mutations were detected in this group. Thirteen other sequence changes were found in these patients, but only the 4216 mutation had been reported previously. Thirteen pedigrees had multi-mutation patterns consisting of one primary mutation together with other sequence changes. No primary mutations were found in patients with optic atrophy of unknown etiology or in patients with optic neuropathy of known etiology. High frequency of 11778 mtDNA mutation was found in Chinese patients with LHON. No specific multi-mutation pattern such as the European mtDNA haplogroup J was found.
Clinical and Experimental Ophthalmology, Oct 1, 2003
ABSTRACT Nuclear genes are suggested to be involved in the pathogenesis of Leber's he... more ABSTRACT Nuclear genes are suggested to be involved in the pathogenesis of Leber's hereditary optic neuropathy (LHON) but it has not been confirmed. The aim of the present study was to investigate chromosomal abnormalities associated with LHON. In a prospective study, comparative genomic hybridization (CGH) was used to analyse genetic changes in five patients with LHON with an 11778 mitochondrial DNA mutation and three asymptomatic maternal relatives. There were no significant genetic copy number alterations detected in the five visually affected patients or in the three unaffected maternal relatives as compared to unrelated normal controls. The CGH technique did not detect any chromosomal abnormalities in LHON patients or in unaffected relatives. Nuclear gene involvement, however, cannot be ruled out.
We report a case of Leber's hered... more We report a case of Leber's hereditary optic neuropathy (LHON) masquerading as optic neuritis with late visual recovery. A 28-year-old man had gradual visual loss in both eyes for two weeks. Visual acuity was 0.4 in the right eye and 0.7 in the left. Fundus examination revealed hyperaemic discs in each eye. Fluorescein angiography revealed dye leakage at both optic discs in the late phase. Static perimetry (Humphrey 30-2) revealed bilateral relative central scotomata. Magnetic resonance imaging of the optic nerves was normal and his lumbar puncture showed normal opening pressure. He received steroid pulse therapy for three days. Nevertheless, vision in his right eye deteriorated to 0.1 one month later and left vision worsened to 0.05 six months later. Fifteen months after onset, his vision began to improve. At 21 months, his vision recovered to 0.9 R and 1.0 L. Peripheral blood DNA sequencing revealed 14484 mutation of mitochondrial DNA (mtDNA). Visual recovery can occur in patients with Leber's hereditary optic neuropathy with mtDNA 14484 mutation. LHON could be misdiagnosed as optic neuritis in some cases. Molecular examination of mtDNA mutation can confirm the diagnosis of LHON in clinically controversial patients. We should keep in mind the diagnosis of LHON when optic neuritis shows poor response to pulse therapy.
Journal of Cataract and Refractive Surgery, Jul 1, 2001
To compare the visual acuity (VA) and contrast sensitivity in 2 types of posterior capsule opacif... more To compare the visual acuity (VA) and contrast sensitivity in 2 types of posterior capsule opacification (PCO) in pseudophakic eyes before and after neodymium:YAG (Nd:YAG) capsulotomy and to evaluate vision test results after Nd:YAG capsulotomy. Department of Ophthalmology, Taipei Veterans General Hospital, National Yang-Ming University, Taipei, Taiwan. Fourteen eyes with fibrosis-type PCO and 15 eyes with Elschnig-pearl-type PCO were enrolled prospectively. Before and 1 week after Nd:YAG capsulotomy, VA and contrast sensitivity were assessed using the illiterate E version of the Bailey-Lovie chart and the Vistech VCTS 6000 chart, respectively. Before capsulotomy, the mean logMAR acuity in the group with Elschnig-pearl-type PCO was 0.47 +/- 0.32 (SD) and in the group with fibrosis-type PCO, 0.17 +/- 0.07. The difference between the 2 groups was significant (P =.002). After capsulotomy, there was no significant between-group difference (P >.05). Before capsulotomy, the contrast sensitivity was significantly worse (P <.01) at all spatial frequencies in the group with pearl-type PCO, especially at 6 cycles per degree. After capsulotomy, there was no significant between-group difference (P >.05) at any spatial frequency. After cataract surgery, patients with pearl-type PCO had lower VA and contrast sensitivity than those with fibrosis-type PCO. An Nd:YAG capsulotomy improved the VA and contrast sensitivity in patients with both types of PCO.
We evaluated the effectiveness of cycloplegics in the treatment of myopia. Patients were selected... more We evaluated the effectiveness of cycloplegics in the treatment of myopia. Patients were selected randomly and divided into three groups: Group 1 received atropine 1% eye drops every other night; Group 2 received cyclopentolate 1% eye drops every night; and Group 3 received normal saline eye drops every night. All the patients were rechecked every three months. The results were evaluated at the end of one year. Ninety-six patients were evaluated, 32 in each group. The mean myopic progression was -0.219 D in the atropine group, -0.578D in the cyclopentolate group, and -0.914D in the saline group. Analysis showed that atropine and cyclopentolate are effective in slowing the progression of myopia. The effect of atropine is better than that of cyclopentolate.
ABSTRACT Magnetic resonance (MR) imaging was performed in a female patient with a chronic septic ... more ABSTRACT Magnetic resonance (MR) imaging was performed in a female patient with a chronic septic form of cavernous sinus thrombosis. She developed diplopia, headache, and high fever one month after paranasal sinus surgery. Magnetic resonance imaging (MRI) revealed an isointense lesion in the right cavernous sinus with a decreased caliber of intracavernous internal carotid artery on T1-weighted coronary and axial plane. After gadolinium injection, the lesion was well enhanced on T1-weighted image. On T2-weighted image, the lesion appeared as a heterogenous hypointense mass in the cavernous sinus. Her symptoms and signs subsided after intensive antibiotic treatment for more than one month. Follow-up MRI showed a decreased size of the thrombus in the right cavernous sinus. MRI provides a precise understanding of normal anatomy and demonstrates details of the complex structures in the cavernous sinus. It is also a very good tool to study the flow character of blood and cerebral spinal fluid. In cavernous sinus thrombosis, MRI provides important diagnostic information concerning the flow status in the cavernous sinus and the involutional process of both thrombus formation and its disintegration.
A 30-year-old male presented to the emergency department with a complaint of acute headache with ... more A 30-year-old male presented to the emergency department with a complaint of acute headache with pain in the right eye and simultaneous weakness and numbness on his left side. Results of ophthalmic examinations showed limited abduction and adduction only in the right eye, while the vertical movement was normal. Mild ptosis with concurrent miosis oculus dexter was also found. A neurological examination revealed left hemiplegia, left hemiparesthesia, left-side sensory ataxia, right facial palsy, and right facial analgesia. Computer tomography revealed a 2.4-cm high-density hemorrhage in the bilateral dorsal aspect of pons, more at the right side. Foville's syndrome with ipsilateral internuclear ophthalmoplegia was diagnosed and the patient received supportive treatment. The patient later complained of left hearing loss and the brainstem auditory evoked potential study suggested a peripheral lesion. Follow-up magnetic resonance imaging studies at the 3 rd and 10 th months showed old pontine hemorrhage with right hypertrophic olivary degeneration (HOD). We reported a rare case of Foville's syndrome with ipsilateral internuclear ophthalmoplegia due to spontaneous pontine hemorrhage. The clinical manifestations correlated well with anatomical involvement. The sequela of HOD after potine hemorrhage should be monitored for the possible late-onset movement disorder.
Three patients who developed unilateral ptosis followed by partial third nerve palsy were found t... more Three patients who developed unilateral ptosis followed by partial third nerve palsy were found to have a pituitary tumour. The visual field defects were minimal and asymptomatic. Two patients had a chromophobe adenoma and one patient had a prolactinoma. The importance of recognising a pituitary tumour as the cause of acquired unilateral ptosis is emphasised.
.Purpose: This study aimed to evaluate the visual outcome of optic neuritis in patients with sys... more .Purpose: This study aimed to evaluate the visual outcome of optic neuritis in patients with systemic lupus erythematosus (SLE).Methods: A retrospective, case‐observational study was conducted by reviewing eight patients with SLE‐associated optic neuritis from January 1986 to October 2004. The demographic data, clinical manifestations, laboratory data, medical management and disease courses of these eight patients were retrospectively analysed. Main outcome measurements included final visual acuity (VA) and relapse of optic neuritis. Statistical analyses were made using the chi‐square test and a linear regression model. The English‐language literature on SLE‐associated optic neuritis was reviewed.Results: Initial visual loss was severe in SLE‐associated optic neuritis. Seven patients (87%) had VA < 20/200 at onset. All patients received steroid pulse therapy followed by oral steroid tapering. Final visual outcome was highly variable, ranging from the complete recovery of VA in four patients, to partial recovery in one and poor recovery in three. Better visual recovery occurred in patients who received earlier treatment (within 10 days). However, longer duration of steroid administration was found to have no significant benefit on visual outcome.Conclusions: Systemic lupus erythematosus‐associated optic neuritis is not common. However, it is important that ophthalmologists differentiate SLE‐associated optic neuritis from idiopathic optic neuritis because of the severe visual impairment and steroid dependence associated with the former. Early diagnosis and prompt treatment are important for restoring visual function in these patients.
Herein we summarize the clinical presentation, treatment and outcome of neuro-ophthalmologic mani... more Herein we summarize the clinical presentation, treatment and outcome of neuro-ophthalmologic manifestations in patients with systemic lupus erythematosus (SLE). We performed a systematic review of the neuro-ophthalmologic manifestations of SLE reported in the English literature from 1970 to 2010 by a Medline search. The prevalence of neuro-ophthalmologic manifestations is 3.6% in adult and 1.6% in childhood SLE patients. Neuro-ophthalmologic manifestations of SLE are highly variable, with the commonest presentation being optic neuritis, followed by myasthenia gravis, visual field defects and pseudotumor cerebri. The underlying pathology was thought to be either SLE activity or its vascular complications. Most neuro-ophthalmologic manifestations of SLE are responsive to high-dose glucocorticoids. Anticoagulation is indicated when there is concomitant antiphospholipid syndrome. SLE-related neuromyelitis optica is often refractory to treatment and 92% of patients require multiple immunosuppressive protocols. Neuro-ophthalmologic manifestations of SLE are uncommon but heterogeneous. The prognosis of neuro-ophthalmologic manifestations in SLE is generally good because of their rapid response to glucocorticoids. Relapses of these manifestations may be reduced by the use of maintenance immunosuppression. Cyclophosphamide, azathioprine, plasmapheresis, intravenous immunoglobulin and rituximab can be considered in glucocorticoid-dependent or refractory cases. Anticoagulation is indicated when there is concomitant antiphospholipid syndrome.
Journal of Pediatric Ophthalmology & Strabismus, Nov 1, 1997
A case has been presented in this article of congenital absence of bilateral inferior rectus musc... more A case has been presented in this article of congenital absence of bilateral inferior rectus muscles combined with restriction of the lateral rectus muscle and malinsertion of the inferior oblique muscle to the lateral rectus muscle. The surgical procedures for correction of the absence of the inferior rectus muscle and embryogenesis of extraocular muscles were also reviewed.
Journal of The Chinese Medical Association, Mar 31, 2021
Background: This study aimed to investigate the short-term effect of cycloplegia on higher-order ... more Background: This study aimed to investigate the short-term effect of cycloplegia on higher-order aberrations (HOAs) in school-age myopic children who received 0.25% atropine for cycloplegic refraction. Methods: We performed a retrospective chart review of 24 myopic children between the ages of 5 and 15 years, who had received one topical drop of 0.25% atropine for three consecutive nights before undergoing cycloplegic refraction. Auto-refraction, visual acuity, and HOAs measured with the iTrace aberrometer were compared before and after atropine use. To account for the effect of cycloplegia, the amount of HOAs under matching scanning sizes was compared. Results: There were statistically significant differences in the spherical equivalent, with a hyperopic shift after atropine use (p < 0.001). Corrected visual acuity and spherical aberrations showed no significant change under the respective pupil and scanning sizes before and after atropine use. Under identical scanning sizes, there was a significant change in total spherical aberration (from 0.03 to 0.06 μm, p = 0.044) and internal spherical aberration (from −0.10 to −0.05 μm, p = 0.049) after atropine use. Differences in corneal spherical aberration were insignificant. Conclusion: The positive shift of spherical aberration induced by the inhibition of accommodation in myopic children may have a possible effect against myopic progression. Future studies can focus on the long-term effect on HOAs and impact on visual quality with lower concentrations of atropine.
Optic neuritis in herpes zoster ophthalmicus (HZO) has been reported rarely. We report two cases ... more Optic neuritis in herpes zoster ophthalmicus (HZO) has been reported rarely. We report two cases of HZO optic neuritis with detailed magnetic resonance imaging study and treatment responses. Cases: One patient presented with anterior optic nerve involvement, and the second pre-sented with retrobulbar optic neuritis. Contrast enhanced T 1-weighted images were obtained in these 2 patients. Intravenous acyclovir and oral prednisolone were given simultaneously. Observations: Magnetic resonance imaging revealed peripheral enhancement of the optic nerve sheath complex on T 1-weighted scan. Both patients recovered their vision within 3 months following the start of treatment. Conclusions: Magnetic resonance imaging is helpful for the diagnosis of HZO optic neuritis. Systemic acyclovir and steroid are effective in the treatment of HZO optic neuritis.
Leber's hereditary optic neuropathy (LHON) causes acute or subacute central visual loss in health... more Leber's hereditary optic neuropathy (LHON) causes acute or subacute central visual loss in healthy young males. Recently, it has been thought to be caused by a single nucleotide change in the ND4 gene in the mitochondrial genome. Mitochondrial DNA (mtDNA) of leukocytes and hair follicle cells from five patients in four families with LHON and nine relatives were analyzed by Sfa NI and Mae III enzyme digestion and DNA sequencing. Loss of Sfa NI site was found in all patients and maternal lineages but not in nonmaternal lineages and normal controls. Mae III digested all the mtDNAs that lost the Sfa NI site. The restriction fragment pattern of polymerase chain reaction (PCR) products exhibited mtDNA heteroplasmy in the hair follicle cells but not in blood cells of the proband in one family. Direct sequencing of PCR-amplified mtDNA fragments encompassing the ND4 gene of the patients disclosed a transition from guanine to adenine at nucleotide position 11778. These results confirm previous reports that a G to A point mutation is associated with LHON and that tissue variability and heteroplasmy of mtDNA exist in some, but not all, LHON patients.
Background: The most common pathogenic mitochondrial DNA (mtDNA) mutation associated with Leber's... more Background: The most common pathogenic mitochondrial DNA (mtDNA) mutation associated with Leber's hereditary optic neuropathy (LHON) is at the 11,778 nucleotide (nt) position and is usually detected by loss of an Sfa NI restriction site. However, Sfa NI restriction site includes five nucleotides. Substitution of any of the five nucleotides leads to loss of the cutting site and causes a false-positive result. We investigated the false-positive diagnosis of LHON by loss of the Sfa NI restriction site using Sfa NI restriction site analysis and single-strand conformation polymorphism (SSCP) analysis. Methods: Mae III restriction analysis for double confirmation of the Sfa NI restriction site and direct sequencing for final confirmation of SSCP analysis were performed. Results: The sensitivity of Sfa NI test was 100% and the specificity of the Sfa NI test was 97%. The false-positive rate of Sfa NI test was 3%. SSCP analysis showed 100% sensitivity. Direct sequencing showed 32 patients had a mutation at nt 11,778 of mtDNA and one patient had a silent mutation at nt 11,782 of mtDNA. Conclusions: These results suggest that restriction enzyme digestion analysis requires double confirmation to avoid a false-positive diagnosis and that DNA sequencing is needed for the confirmation of the mutation detected by SSCP.
Leber&amp... more Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease characterized by acute or subacute visual loss predominantly affecting young men. The majority of LHON cases are caused by one of the three primary mitochondrial DNA (mtDNA) mutations: G3460A/ND1, G11778A/ND4, or T14484C/ND6. Although the primary etiological factor of LHON is a mtDNA mutation, the presence of a primary mtDNA mutation does not necessarily lead to visual loss. The pathogenesis of LHON remains unclear. The marked incomplete penetrance and gender bias indicate that additional genetic (nuclear or mitochondrial) and epigenetic factors may also be involved. Deficiency in respiratory chain function and reactive oxygen species (ROS) are believed to play a pivotal role in the pathophysiology of the disease.
A defect in mitochondrial energy conservation is strongly suggested to be involved in the pathoge... more A defect in mitochondrial energy conservation is strongly suggested to be involved in the pathogenesis of Leber's hereditary optic neuropathy (LHON). The authors therefore compared the energy charge in lymphocytes among patients with LHON, their asymptomatic maternal lineages, and normal control subjects. Blood samples were obtained from 7 patients, 10 asymptomatic maternal relatives, and 16 normal subjects. Molecular analysis confirmed that all had the homoplasmic 11,778 point mutation in the mtDNA of their blood cells. The concentrations of adenosine triphosphate (ATP), diphosphate (ADP), and monophosphate (AMP) were determined by high-performance liquid chromatography. The energy charge was calculated as (ATP + 1/2 ADP)/(ATP + ADP + AMP). The mean energy charges of lymphocytes were 0.871 +/- 0.049 in patients with LHON, 0.884 +/- 0.061 in their asymptomatic maternal relatives, and 0.885 +/- 0.061 in normal controls, respectively. No statistically significant difference was found among the three groups. Although the study did not find the anticipated change in energy charge in peripheral blood cells, this neither confirms nor rejects the notion that a defect in the mitochondrial oxidative phosphorylation system is involved in the pathogenesis of LHON.
ABSTRACT To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients w... more ABSTRACT To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON), optic atrophy of unknown etiology, and optic neuropathy of known etiology. Twenty-seven patients from 25 LHON pedigrees, 22 patients with bilateral optic atrophy of unknown etiology, 21 patients with optic neuropathy of known etiology, and 25 normal healthy controls were included in this study. Twelve pairs of primers that covered the 21 reported mtDNA mutations were utilized. Single-strand conformation polymorphism analysis and DNA sequencing were used to detect base substitutions in mtDNA. Twenty-three LHON pedigrees (92%) had the 11778 mtDNA primary mutation. Two pedigrees (8%) had the 14484 mutation. No 3460 mutations were detected in this group. Thirteen other sequence changes were found in these patients, but only the 4216 mutation had been reported previously. Thirteen pedigrees had multi-mutation patterns consisting of one primary mutation together with other sequence changes. No primary mutations were found in patients with optic atrophy of unknown etiology or in patients with optic neuropathy of known etiology. High frequency of 11778 mtDNA mutation was found in Chinese patients with LHON. No specific multi-mutation pattern such as the European mtDNA haplogroup J was found.
Clinical and Experimental Ophthalmology, Oct 1, 2003
ABSTRACT Nuclear genes are suggested to be involved in the pathogenesis of Leber's he... more ABSTRACT Nuclear genes are suggested to be involved in the pathogenesis of Leber's hereditary optic neuropathy (LHON) but it has not been confirmed. The aim of the present study was to investigate chromosomal abnormalities associated with LHON. In a prospective study, comparative genomic hybridization (CGH) was used to analyse genetic changes in five patients with LHON with an 11778 mitochondrial DNA mutation and three asymptomatic maternal relatives. There were no significant genetic copy number alterations detected in the five visually affected patients or in the three unaffected maternal relatives as compared to unrelated normal controls. The CGH technique did not detect any chromosomal abnormalities in LHON patients or in unaffected relatives. Nuclear gene involvement, however, cannot be ruled out.
We report a case of Leber's hered... more We report a case of Leber's hereditary optic neuropathy (LHON) masquerading as optic neuritis with late visual recovery. A 28-year-old man had gradual visual loss in both eyes for two weeks. Visual acuity was 0.4 in the right eye and 0.7 in the left. Fundus examination revealed hyperaemic discs in each eye. Fluorescein angiography revealed dye leakage at both optic discs in the late phase. Static perimetry (Humphrey 30-2) revealed bilateral relative central scotomata. Magnetic resonance imaging of the optic nerves was normal and his lumbar puncture showed normal opening pressure. He received steroid pulse therapy for three days. Nevertheless, vision in his right eye deteriorated to 0.1 one month later and left vision worsened to 0.05 six months later. Fifteen months after onset, his vision began to improve. At 21 months, his vision recovered to 0.9 R and 1.0 L. Peripheral blood DNA sequencing revealed 14484 mutation of mitochondrial DNA (mtDNA). Visual recovery can occur in patients with Leber's hereditary optic neuropathy with mtDNA 14484 mutation. LHON could be misdiagnosed as optic neuritis in some cases. Molecular examination of mtDNA mutation can confirm the diagnosis of LHON in clinically controversial patients. We should keep in mind the diagnosis of LHON when optic neuritis shows poor response to pulse therapy.
Journal of Cataract and Refractive Surgery, Jul 1, 2001
To compare the visual acuity (VA) and contrast sensitivity in 2 types of posterior capsule opacif... more To compare the visual acuity (VA) and contrast sensitivity in 2 types of posterior capsule opacification (PCO) in pseudophakic eyes before and after neodymium:YAG (Nd:YAG) capsulotomy and to evaluate vision test results after Nd:YAG capsulotomy. Department of Ophthalmology, Taipei Veterans General Hospital, National Yang-Ming University, Taipei, Taiwan. Fourteen eyes with fibrosis-type PCO and 15 eyes with Elschnig-pearl-type PCO were enrolled prospectively. Before and 1 week after Nd:YAG capsulotomy, VA and contrast sensitivity were assessed using the illiterate E version of the Bailey-Lovie chart and the Vistech VCTS 6000 chart, respectively. Before capsulotomy, the mean logMAR acuity in the group with Elschnig-pearl-type PCO was 0.47 +/- 0.32 (SD) and in the group with fibrosis-type PCO, 0.17 +/- 0.07. The difference between the 2 groups was significant (P =.002). After capsulotomy, there was no significant between-group difference (P >.05). Before capsulotomy, the contrast sensitivity was significantly worse (P <.01) at all spatial frequencies in the group with pearl-type PCO, especially at 6 cycles per degree. After capsulotomy, there was no significant between-group difference (P >.05) at any spatial frequency. After cataract surgery, patients with pearl-type PCO had lower VA and contrast sensitivity than those with fibrosis-type PCO. An Nd:YAG capsulotomy improved the VA and contrast sensitivity in patients with both types of PCO.
We evaluated the effectiveness of cycloplegics in the treatment of myopia. Patients were selected... more We evaluated the effectiveness of cycloplegics in the treatment of myopia. Patients were selected randomly and divided into three groups: Group 1 received atropine 1% eye drops every other night; Group 2 received cyclopentolate 1% eye drops every night; and Group 3 received normal saline eye drops every night. All the patients were rechecked every three months. The results were evaluated at the end of one year. Ninety-six patients were evaluated, 32 in each group. The mean myopic progression was -0.219 D in the atropine group, -0.578D in the cyclopentolate group, and -0.914D in the saline group. Analysis showed that atropine and cyclopentolate are effective in slowing the progression of myopia. The effect of atropine is better than that of cyclopentolate.
ABSTRACT Magnetic resonance (MR) imaging was performed in a female patient with a chronic septic ... more ABSTRACT Magnetic resonance (MR) imaging was performed in a female patient with a chronic septic form of cavernous sinus thrombosis. She developed diplopia, headache, and high fever one month after paranasal sinus surgery. Magnetic resonance imaging (MRI) revealed an isointense lesion in the right cavernous sinus with a decreased caliber of intracavernous internal carotid artery on T1-weighted coronary and axial plane. After gadolinium injection, the lesion was well enhanced on T1-weighted image. On T2-weighted image, the lesion appeared as a heterogenous hypointense mass in the cavernous sinus. Her symptoms and signs subsided after intensive antibiotic treatment for more than one month. Follow-up MRI showed a decreased size of the thrombus in the right cavernous sinus. MRI provides a precise understanding of normal anatomy and demonstrates details of the complex structures in the cavernous sinus. It is also a very good tool to study the flow character of blood and cerebral spinal fluid. In cavernous sinus thrombosis, MRI provides important diagnostic information concerning the flow status in the cavernous sinus and the involutional process of both thrombus formation and its disintegration.
A 30-year-old male presented to the emergency department with a complaint of acute headache with ... more A 30-year-old male presented to the emergency department with a complaint of acute headache with pain in the right eye and simultaneous weakness and numbness on his left side. Results of ophthalmic examinations showed limited abduction and adduction only in the right eye, while the vertical movement was normal. Mild ptosis with concurrent miosis oculus dexter was also found. A neurological examination revealed left hemiplegia, left hemiparesthesia, left-side sensory ataxia, right facial palsy, and right facial analgesia. Computer tomography revealed a 2.4-cm high-density hemorrhage in the bilateral dorsal aspect of pons, more at the right side. Foville's syndrome with ipsilateral internuclear ophthalmoplegia was diagnosed and the patient received supportive treatment. The patient later complained of left hearing loss and the brainstem auditory evoked potential study suggested a peripheral lesion. Follow-up magnetic resonance imaging studies at the 3 rd and 10 th months showed old pontine hemorrhage with right hypertrophic olivary degeneration (HOD). We reported a rare case of Foville's syndrome with ipsilateral internuclear ophthalmoplegia due to spontaneous pontine hemorrhage. The clinical manifestations correlated well with anatomical involvement. The sequela of HOD after potine hemorrhage should be monitored for the possible late-onset movement disorder.
Three patients who developed unilateral ptosis followed by partial third nerve palsy were found t... more Three patients who developed unilateral ptosis followed by partial third nerve palsy were found to have a pituitary tumour. The visual field defects were minimal and asymptomatic. Two patients had a chromophobe adenoma and one patient had a prolactinoma. The importance of recognising a pituitary tumour as the cause of acquired unilateral ptosis is emphasised.
.Purpose: This study aimed to evaluate the visual outcome of optic neuritis in patients with sys... more .Purpose: This study aimed to evaluate the visual outcome of optic neuritis in patients with systemic lupus erythematosus (SLE).Methods: A retrospective, case‐observational study was conducted by reviewing eight patients with SLE‐associated optic neuritis from January 1986 to October 2004. The demographic data, clinical manifestations, laboratory data, medical management and disease courses of these eight patients were retrospectively analysed. Main outcome measurements included final visual acuity (VA) and relapse of optic neuritis. Statistical analyses were made using the chi‐square test and a linear regression model. The English‐language literature on SLE‐associated optic neuritis was reviewed.Results: Initial visual loss was severe in SLE‐associated optic neuritis. Seven patients (87%) had VA < 20/200 at onset. All patients received steroid pulse therapy followed by oral steroid tapering. Final visual outcome was highly variable, ranging from the complete recovery of VA in four patients, to partial recovery in one and poor recovery in three. Better visual recovery occurred in patients who received earlier treatment (within 10 days). However, longer duration of steroid administration was found to have no significant benefit on visual outcome.Conclusions: Systemic lupus erythematosus‐associated optic neuritis is not common. However, it is important that ophthalmologists differentiate SLE‐associated optic neuritis from idiopathic optic neuritis because of the severe visual impairment and steroid dependence associated with the former. Early diagnosis and prompt treatment are important for restoring visual function in these patients.
Herein we summarize the clinical presentation, treatment and outcome of neuro-ophthalmologic mani... more Herein we summarize the clinical presentation, treatment and outcome of neuro-ophthalmologic manifestations in patients with systemic lupus erythematosus (SLE). We performed a systematic review of the neuro-ophthalmologic manifestations of SLE reported in the English literature from 1970 to 2010 by a Medline search. The prevalence of neuro-ophthalmologic manifestations is 3.6% in adult and 1.6% in childhood SLE patients. Neuro-ophthalmologic manifestations of SLE are highly variable, with the commonest presentation being optic neuritis, followed by myasthenia gravis, visual field defects and pseudotumor cerebri. The underlying pathology was thought to be either SLE activity or its vascular complications. Most neuro-ophthalmologic manifestations of SLE are responsive to high-dose glucocorticoids. Anticoagulation is indicated when there is concomitant antiphospholipid syndrome. SLE-related neuromyelitis optica is often refractory to treatment and 92% of patients require multiple immunosuppressive protocols. Neuro-ophthalmologic manifestations of SLE are uncommon but heterogeneous. The prognosis of neuro-ophthalmologic manifestations in SLE is generally good because of their rapid response to glucocorticoids. Relapses of these manifestations may be reduced by the use of maintenance immunosuppression. Cyclophosphamide, azathioprine, plasmapheresis, intravenous immunoglobulin and rituximab can be considered in glucocorticoid-dependent or refractory cases. Anticoagulation is indicated when there is concomitant antiphospholipid syndrome.
Journal of Pediatric Ophthalmology & Strabismus, Nov 1, 1997
A case has been presented in this article of congenital absence of bilateral inferior rectus musc... more A case has been presented in this article of congenital absence of bilateral inferior rectus muscles combined with restriction of the lateral rectus muscle and malinsertion of the inferior oblique muscle to the lateral rectus muscle. The surgical procedures for correction of the absence of the inferior rectus muscle and embryogenesis of extraocular muscles were also reviewed.
Journal of The Chinese Medical Association, Mar 31, 2021
Background: This study aimed to investigate the short-term effect of cycloplegia on higher-order ... more Background: This study aimed to investigate the short-term effect of cycloplegia on higher-order aberrations (HOAs) in school-age myopic children who received 0.25% atropine for cycloplegic refraction. Methods: We performed a retrospective chart review of 24 myopic children between the ages of 5 and 15 years, who had received one topical drop of 0.25% atropine for three consecutive nights before undergoing cycloplegic refraction. Auto-refraction, visual acuity, and HOAs measured with the iTrace aberrometer were compared before and after atropine use. To account for the effect of cycloplegia, the amount of HOAs under matching scanning sizes was compared. Results: There were statistically significant differences in the spherical equivalent, with a hyperopic shift after atropine use (p < 0.001). Corrected visual acuity and spherical aberrations showed no significant change under the respective pupil and scanning sizes before and after atropine use. Under identical scanning sizes, there was a significant change in total spherical aberration (from 0.03 to 0.06 μm, p = 0.044) and internal spherical aberration (from −0.10 to −0.05 μm, p = 0.049) after atropine use. Differences in corneal spherical aberration were insignificant. Conclusion: The positive shift of spherical aberration induced by the inhibition of accommodation in myopic children may have a possible effect against myopic progression. Future studies can focus on the long-term effect on HOAs and impact on visual quality with lower concentrations of atropine.
Optic neuritis in herpes zoster ophthalmicus (HZO) has been reported rarely. We report two cases ... more Optic neuritis in herpes zoster ophthalmicus (HZO) has been reported rarely. We report two cases of HZO optic neuritis with detailed magnetic resonance imaging study and treatment responses. Cases: One patient presented with anterior optic nerve involvement, and the second pre-sented with retrobulbar optic neuritis. Contrast enhanced T 1-weighted images were obtained in these 2 patients. Intravenous acyclovir and oral prednisolone were given simultaneously. Observations: Magnetic resonance imaging revealed peripheral enhancement of the optic nerve sheath complex on T 1-weighted scan. Both patients recovered their vision within 3 months following the start of treatment. Conclusions: Magnetic resonance imaging is helpful for the diagnosis of HZO optic neuritis. Systemic acyclovir and steroid are effective in the treatment of HZO optic neuritis.
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Papers by May-yung Yen