Four cases of macular ectopia are described. Pseudostrabismus, caused by an increased angle alpha... more Four cases of macular ectopia are described. Pseudostrabismus, caused by an increased angle alpha, is only one of the signs common to macular ectopia. A correct diagnosis is of fundamental importance because the treatment of macular ectopia is different from that of strabismus.
Abstract Purpose: In congenital cataracts, the need for early intervention is well established to... more Abstract Purpose: In congenital cataracts, the need for early intervention is well established to prevent visual deprivation and amblyopia. We evaluated patients with unilateral amblyogenic congenital who had undergone simultaneous cataract removal and intraocular lens implantation. Methods: We retrospectively reviewed all patients operated on between 1990 and 2010 at the Pediatric Eye Department of the University Federico II of Naples (Italy). Minimum follow-up for inclusion was 48 months. Results: 52 patients (28 females, 24 males, mean age at surgery 9.0 ± 4.5 months, range 2-21 months) were included in this retrospective review. Mean follow-up was 100.7 ± 57.0 months (range, 48-270 months). At last visit, mean BCVA in the operated eyes was 0.65 ± 0.4 (range, 0.04-1.3) LogMAR and 40 patients (76.9%) had strabismus. In patients undergoing surgery at an age >12 months, BCVA was significantly lower (0.92 ± 0.4 LogMAR versus 0.60 ± 0.4 LogMAR, p = 0.01), although development of myopic shift was less frequent (61.5% versus 43.5%, p = 0.03). BCVA at last visit was higher in patients with a first stable pseudophakic SE between +1D and +3D (p = 0.02). Conclusions: Worse final BCVA, despite less frequent development of myopic shift, was observed when surgery was performed after 12 months of age. A hyperopic correction in first stable pseudophakic SE seems advisable.
Uncorrected myopic anisometropia in childhood frequently leads to amblyopia. Traditional treatmen... more Uncorrected myopic anisometropia in childhood frequently leads to amblyopia. Traditional treatments to correct refractive errors in children with myopic anisometropia include the use of spectacles and contact lenses together with amblyopia occlusion therapy; contact lenses, while achieving better vision quality and reducing amblyogenic stimuli compared to glasses, are expensive, frequently lost by children, and can give rise to intolerance (1, 2). Correction of the refractive error with excimer laser is a promising alternative therapy that has been explored over
Indications and surgical techniques for cataract extraction are firmly established; however, apha... more Indications and surgical techniques for cataract extraction are firmly established; however, aphakia correction, choice of surgical procedure, and the optimum age for surgery are controversial (1, 2). Some studies, in fact, report visual recovery by means of intraocular lens implantation (IOL) in patients with unilateral cataract under 12 months of age (3-5) whereas other
To evaluate the presence of strabismus in patients with developmental cataract rendered pseudopha... more To evaluate the presence of strabismus in patients with developmental cataract rendered pseudophakic and how this influences their visual acuity. A retrospective study was carried out on 113 patients with developmental cataract who came under the authors' observation at the outpatient department of the Pediatric Ophthalmology Unit of the University of Federico II of Naples from 1990 to 2005. All patients were followed up for a long period (mean 62 months, range 36-144 months). Age at diagnosis, sex, laterality, age at cataract extraction, morphology, and cataract density were all considered as possible factors associated with strabismus. Visual acuity and ocular motility before and after cataract extraction surgery were especially noted. Statistical evaluation was performed using t-test, Chi-square test, and Fisher exact test. Out of the 113 patients a total of 181 eyes were affected: 68 patients (60%) presented bilateral cataract, 45 patients (40%) monolateral cataract. Strabismus was present in 39 patients (34%) before cataract surgery. Age at cataract diagnosis, age at surgery, sex, and cataract morphology were not found to be statistically associated with strabismus. However, laterality was found to be statistically associated with the onset of strabismus. Cataract density was found to be statistically associated with poor vision. Patients with strabismus presented a non statistically significant lower visual acuity. Strabismus has a greater incidence in developmental cataract compared to the general population, and can influence visual acuity, especially in monolateral and total cataracts. Intraocular lens implants produced satisfactory visual rehabilitation.
Refractive accommodative esotropia is a common type of strabismus in which uncorrected hyperopia ... more Refractive accommodative esotropia is a common type of strabismus in which uncorrected hyperopia causes an increase in accommodative force that leads to convergence when the functioning divergence is insufficient. It is characterized by high hyperopia, esotropia, and a normal ac-
To evaluate the efficiency and safety of iontophoretic transepithelial corneal crosslinking in pe... more To evaluate the efficiency and safety of iontophoretic transepithelial corneal crosslinking in pediatric patients with progressive keratoconus underwent general or topical anesthesia in 18 months follow-up. 13 patients (13 eyes) diagnosed with progressive keratoconus underwent corneal CXL with iontophoresis (I-CXL). Riboflavin solution was administered by iontophoresis for 5 min, and then UV-A irradiation (10 mW/cm) was performed for 9 min. Preoperative and post-operative visits at 1, 6, 12, and 18 months assessed the following parameters: uncorrected visual acuity (UCVA), best-corrected visual acuity (BCVA), slit-lamp biomicroscopy, corneal topography, optical tomography, and pachymetry with Pentacam (Oculus Optikgeräte GmbH, Wetzlar, Germany), endothelial biomicroscopy (Konan Specular Microscope; Konan Medical, Inc., Hyogo, Japan). The paired Student t test was used to compare data during the follow-up. 10 males and 3 females with a mean age of 15.4 ± 1.7 years (range 11-18 years) were included. The results showed a stabilization of the refractive UCVA and BCVA as early as the first post-operative month, with a slight improvement over time. The Kmax remained stable throughout follow-up (p = 0.04). Transepithelial collagen crosslinking by iontophoresis, unlike other transepithelial techniques seems to halt pediatric keratoconus progression over 18 months. This is the second study evaluating CXL with iontophoresis in pediatric patients with progressive keratoconus with 18 months of follow-up using two different ways of anesthesia.
Purpose To evaluate circumpapillary retinal nerve fiber layer (cpRNFL) and ganglion cell complex ... more Purpose To evaluate circumpapillary retinal nerve fiber layer (cpRNFL) and ganglion cell complex (GCC) after ocular blunt trauma. Methods Best-corrected visual acuity (BCVA), cpRNFL and GCC were evaluated by RTVue-100 OCT in all consecutive patients with previous monocular blunt trauma seen between January 2012 and December 2012. Results Twenty-two patients (11 females, 11 males, mean age 43.9±14.2 years) were included in the study. Patients were seen after a mean of 8.42 ± 13.3 (range, 0.08-55.3) years from ocular blunt trauma. BCVA was normal in 11 cases and was less than 0.4 LogMAR in all cases. In 9/22 patients (40.9%), cpRNFL and GCC were reduced, whereas in one case an isolated reduction of GCC with normal cpRNFL was present. In patients with reduction of cpRNFL and GCC, mean BCVA was 0.17 ± 0.17 LogMAR. In 6/9 patients (66.6%) with cpRNFL and GCC reduction, BCVA was r0.1 LogMAR. Conclusion cpRNFL and GCC reduction may be present after ocular blunt trauma and may be associated with preserved visual acuity.
Accommodative esotropia (AE) is a convergent deviation due to an excess of the convergence linked... more Accommodative esotropia (AE) is a convergent deviation due to an excess of the convergence linked to the innervational stimulus for accommodation and it is usually associated to the presence of hyperopia. The development of hyperopia over time has been widely described but the lack of comparative analysis among accommodative esotropia subtypes, does not allow to verify the existence of different developmental patterns. In this study we aimed to describe the long term changes of refractive error in patients affected by accommodative esotropia as a function of the strabismus type: refractive (RAE), non-refractive (NRAE) and partially accommodative esotropia (PAE). The medical records of 66 patients (24 RAE, 22 PAE, 20 NRAE), who wore the full correction of their cycloplegic refraction error during the entire follow up period, were retrospectively reviewed. Mean outcome was the analysis of the variations, among groups, of refractive error over time; differences between mild (3.00D) and high (!5.00D) hyperopia, effects of amblyopia and relationship with AC/A ratio were also investigated. All patients were followed up from approximately 4 years of age to 20, with mean follow up of 16.06±0.29 years. Our results described similar non-linear trend of refractive error development among groups. The initial increase of hyperopia (up to 7-8 years) was followed by a decreasing trend persisting up to adulthood (approximately 20 years of age). During this period, spherical equivalent decreased at a lower mean annual rate in patients affected by RAE (-0.07D) compared to other groups (NRAE-0.11D, p = 0.003 and PAE 0.13D, p = 0.002). In all groups, however, significant amount of hyperopia was found at last examination; indeed the observed difference in SE values from baseline to the end of follow up, was not significant (RAE: +0.27D, 95% C.I.-0.49 to +1.04D, p = 0.472; PAE:-0.69D, 95% C.I.-1.67 to +0.28D, p = 0.154; NRAE:-0.39D, 95% C.I.-1.11 to +0.34D, p = 0.278). AC/A ratio, amblyopia and amount of initial hyperopia appeared to have no significant role in longitudinal change of the refractive error. In conclusion, this study provides a complete overview, from childhood to adulthood, of refractive error development in different form of accommodative esotropia.
AIM. To characterize by multimodal approach the phenotype of patients from a three generations pe... more AIM. To characterize by multimodal approach the phenotype of patients from a three generations pedigree, affected by autosomal dominant cone-rod dystrophy (CRD), found to carry a novel pathogenic variant in the CRX gene. METHODS. Examination of the adult patients included: visual acuity, multicolour imaging, spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and OCT Angiography (OCT-A) recordings. In a 2.5 years old child, cycloplegic refraction, fundoscopy, ocular motility evaluation and electrophysiological exams were performed. Next Generation Sequencing of patients' DNA has been carried out. RESULTS. A novel CRX pathogenic variant has been identified in our patients. The 2.5 years old child in the third generation was found to have inherited the variant, with no clinical signs of the condition, but electroretinographic abnormalities in the scotopic component. In the adult patients diffuse atrophy of the RPE/photoreceptor complex in the macular region was evident at the OCT and FAF, while OCT-A showed choriocapillaris density reduction. CONCLUSIONS. Multimodal study allowed the characterization of a peculiar form of CRD. The novel pathogenic variant seems to have a different effect on the phenotype if compared with a previously described similar one, giving an insight into the pathogenic mechanism of CRX-related retinal dystrophies and offering valuable information in consideration of possible future therapies.
Down syndrome (DS) is caused by a chromosomal anomaly and is characterized, among other alteratio... more Down syndrome (DS) is caused by a chromosomal anomaly and is characterized, among other alterations, by a high rate of ocular abnormalities of the eyelids, cornea, iris, lens, retina, and optic disc, leading to amblyopia, strabismus, nystagmus, and other pathologies (1). Epidemiologic studies on the incidence of ocular anomalies in children with DS tend to show great variability depending on the population that was examined (2-4). The present study identifies the incidence of ocular anomalies in 157 Italian children with DS.
Purpose: To compare efficiency and safety of epithelium-off corneal cross-linking (CXL) and trans... more Purpose: To compare efficiency and safety of epithelium-off corneal cross-linking (CXL) and transepithelial cross-linking (TE-CXL) in pediatric patients with progressive keratoconus. Methods: Uncorrected and corrected visual acuity, corneal topography and pachymetry (Pentacam; Oculus Pentacam), and in vivo confocal microscopy (HRT II,
Graefes Archive for Clinical and Experimental Ophthalmology, Aug 22, 2017
Purpose To assess whether infantile visual deprivation induced by developmental cataract may infl... more Purpose To assess whether infantile visual deprivation induced by developmental cataract may influence the conedriven retinal function in humans. Methods A total of 14 patients with history of bilateral developmental cataract (DC), who had undergone uncomplicated cataract extraction surgery and intraocular lens implant, and 14 healthy subjects (HS) were enrolled. All patients underwent complete ophthalmological and orthoptic evaluations and best-corrected visual acuity measurement. Lightadapted full-field electroretinograms (ERG) and photopic negative responses (PhNR) were recorded to obtain a reliable measurement of the outer/inner retinal function and of the retinal ganglion cells' function, respectively. Result Mean values of light-adapted ERG a-and b-wave implicit times were slightly delayed when compared to HS values. Light-adapted ERG a-wave amplitude mean values showed borderline values (p = 0.001), whereas a-wave amplitude analysis at 5 ms, b-wave and PhNR amplitude mean values showed no significant differences when compared to control values. No significant correlations were found when age at surgery, time elapsed from surgery, duration of the visual deprivation, age at examination, age at first detection of the opacity, BCVA and electrophysiological parameters were plotted together. Coherently with morphological studies, the extremely light bioelectrical impairment of the cone pathway in our cohort of patients describes minimal functional abnormalities of a wellstructured retina that is not completely mature. Conclusions Our present results, combined to those of our previous work on congenital cataracts, allow us to enhance the comprehension of functional developmental mechanisms of children's retinas and highlight the relevance of the timely treatment of lens opacities during infancy.
To assess whether the early light deprivation induced by congenital cataract may influence the co... more To assess whether the early light deprivation induced by congenital cataract may influence the cone-driven retinal function in humans. Methods: Forty-one patients affected by congenital cataract (CC) who had undergone uncomplicated cataract extraction surgery and intraocular lens implant, and 14 healthy subjects (HS) were enrolled. All patients underwent complete ophthalmological and orthoptic evaluations and best-corrected visual acuity (BCVA) measurement; light-adapted full-field electroretinograms (ERG) and photopic negative responses (PhNR) were recorded to obtain a reliable measurement of the outer/inner retinal function and of the retinal ganglion cells' function respectively. Results: Mean values of light-adapted ERG a-and b-wave and PhNR amplitude of CC eyes were significantly reduced and photopic ERG b-wave implicit time mean values were significantly delayed when compared to HS ones. When studying photopic ERG mean amplitudes at 5 ms, significant differences were found when comparing CC and control eyes. In CC eyes, statistically significant correlations were found between a-and b-wave amplitudes and PhNR amplitudes. No significant correlations were found between ERG parameters and BCVA, as well as between the age of CC patients at surgery and the time elapsed from lens extraction. No significant differences were found when functional parameters of bilateral and unilateral congenital cataract (uCC) eyes were compared, however uCC eyes showed significant differences when compared with contralateral healthy eyes. Conclusion: We found a significant impairment of cone-driven retinal responses in patients with a history of congenital cataract. These changes might result from the longlasting effects of early light deprivation on the cone retinal pathways. Our findings support the relevance of retinal involvement in deficits induced by early light deprivation.
IntroductIon. Refractive surgery has the potential to be a definitive treatment for accommodative... more IntroductIon. Refractive surgery has the potential to be a definitive treatment for accommodative esotropia, yet it has not been widely embraced. This article reviews the current literature on refractive surgery to treat accommodative esotropia. Methods. A literature search was performed using the following terms: refractive surgery, photorefractive keratectomy, laser-assisted keratomileusis, intraocular lens, hyperopia, accommodative esotropia, children, pediatric. results. Fifteen series of patients treated with refractive surgery for accommodative esotropia were identified and summarized. conclusIons. Refractive surgery holds promise for the treatment of accommodative esotropia, although treatment risks are present and additional investigation is needed.
Background/aims Tomographic analysis of macular and peripapillary retinal nerve fibers layer (RNF... more Background/aims Tomographic analysis of macular and peripapillary retinal nerve fibers layer (RNFL) thickness in patients with history of congenital (CC) and developmental cataract (DC). Methods Analysis of macular and RNFL thickness using a spectral-domain optical coherence tomography was performed. Retinal layers thickness was measured using the internal segmentation software. Measurements of affected (unilateral and bilateral), contralateral eyes and control eyes were compared. Results Patients with history of CC or DC (n = 13 and 11 respectively) and 35 healthy control subjects were enrolled. Thicker inner and outer nuclear layers (INL, ONL) and thicker ONL were found when CC and DC group when compared to controls respectively. Bilateral CC showed the most relevant differences. Slight thickening of CC inner retinal layers were found when compared to DC. Increased superonasal RNFL thickness was found in CC group when compared to DC and controls. Thickening of RNFL of contralatera...
Background Best vitelliform macular dystrophy (BVMD) is an autosomal dominant macular degeneratio... more Background Best vitelliform macular dystrophy (BVMD) is an autosomal dominant macular degeneration. The typical central yellowish yolk-like lesion usually appears in childhood and gradually worsens. Most cases are caused by variants in the BEST1 gene which encodes bestrophin-1, an integral membrane protein found primarily in the retinal pigment epithelium. Methods Here we describe the spectrum of BEST1 variants identified in a cohort of 57 Italian patients analyzed by Sanger sequencing. In 13 cases, the study also included segregation analysis in affected and unaffected relatives. We used molecular mechanics to calculate two quantitative parameters related to calcium-activated chloride channel (CaCC composed of 5 BEST1 subunits) stability and calcium-dependent activation and related them to the potential pathogenicity of individual missense variants detected in the probands. Results Thirty-six out of 57 probands (63% positivity) and 16 out of 18 relatives proved positive to genetic ...
Introduction. Refractive surgery has the potential to be a definitive treatment for accommodative... more Introduction. Refractive surgery has the potential to be a definitive treatment for accommodative esotropia, yet it has not been widely embraced. This article reviews the current literature on refractive surgery to treat accommodative esotropia. Methods. A literature search was performed using the following terms: refractive surgery, photorefractive keratectomy, laser-assisted keratomileusis, intraocular lens, hyperopia, accommodative esotropia, children, pediatric. Results. Fifteen series of patients treated with refractive surgery for accommodative esotropia were identified and summarized. Conclusions. Refractive surgery holds promise for the treatment of accommodative esotropia, although treatment risks are present and additional investigation is needed.
Four cases of macular ectopia are described. Pseudostrabismus, caused by an increased angle alpha... more Four cases of macular ectopia are described. Pseudostrabismus, caused by an increased angle alpha, is only one of the signs common to macular ectopia. A correct diagnosis is of fundamental importance because the treatment of macular ectopia is different from that of strabismus.
Abstract Purpose: In congenital cataracts, the need for early intervention is well established to... more Abstract Purpose: In congenital cataracts, the need for early intervention is well established to prevent visual deprivation and amblyopia. We evaluated patients with unilateral amblyogenic congenital who had undergone simultaneous cataract removal and intraocular lens implantation. Methods: We retrospectively reviewed all patients operated on between 1990 and 2010 at the Pediatric Eye Department of the University Federico II of Naples (Italy). Minimum follow-up for inclusion was 48 months. Results: 52 patients (28 females, 24 males, mean age at surgery 9.0 ± 4.5 months, range 2-21 months) were included in this retrospective review. Mean follow-up was 100.7 ± 57.0 months (range, 48-270 months). At last visit, mean BCVA in the operated eyes was 0.65 ± 0.4 (range, 0.04-1.3) LogMAR and 40 patients (76.9%) had strabismus. In patients undergoing surgery at an age >12 months, BCVA was significantly lower (0.92 ± 0.4 LogMAR versus 0.60 ± 0.4 LogMAR, p = 0.01), although development of myopic shift was less frequent (61.5% versus 43.5%, p = 0.03). BCVA at last visit was higher in patients with a first stable pseudophakic SE between +1D and +3D (p = 0.02). Conclusions: Worse final BCVA, despite less frequent development of myopic shift, was observed when surgery was performed after 12 months of age. A hyperopic correction in first stable pseudophakic SE seems advisable.
Uncorrected myopic anisometropia in childhood frequently leads to amblyopia. Traditional treatmen... more Uncorrected myopic anisometropia in childhood frequently leads to amblyopia. Traditional treatments to correct refractive errors in children with myopic anisometropia include the use of spectacles and contact lenses together with amblyopia occlusion therapy; contact lenses, while achieving better vision quality and reducing amblyogenic stimuli compared to glasses, are expensive, frequently lost by children, and can give rise to intolerance (1, 2). Correction of the refractive error with excimer laser is a promising alternative therapy that has been explored over
Indications and surgical techniques for cataract extraction are firmly established; however, apha... more Indications and surgical techniques for cataract extraction are firmly established; however, aphakia correction, choice of surgical procedure, and the optimum age for surgery are controversial (1, 2). Some studies, in fact, report visual recovery by means of intraocular lens implantation (IOL) in patients with unilateral cataract under 12 months of age (3-5) whereas other
To evaluate the presence of strabismus in patients with developmental cataract rendered pseudopha... more To evaluate the presence of strabismus in patients with developmental cataract rendered pseudophakic and how this influences their visual acuity. A retrospective study was carried out on 113 patients with developmental cataract who came under the authors' observation at the outpatient department of the Pediatric Ophthalmology Unit of the University of Federico II of Naples from 1990 to 2005. All patients were followed up for a long period (mean 62 months, range 36-144 months). Age at diagnosis, sex, laterality, age at cataract extraction, morphology, and cataract density were all considered as possible factors associated with strabismus. Visual acuity and ocular motility before and after cataract extraction surgery were especially noted. Statistical evaluation was performed using t-test, Chi-square test, and Fisher exact test. Out of the 113 patients a total of 181 eyes were affected: 68 patients (60%) presented bilateral cataract, 45 patients (40%) monolateral cataract. Strabismus was present in 39 patients (34%) before cataract surgery. Age at cataract diagnosis, age at surgery, sex, and cataract morphology were not found to be statistically associated with strabismus. However, laterality was found to be statistically associated with the onset of strabismus. Cataract density was found to be statistically associated with poor vision. Patients with strabismus presented a non statistically significant lower visual acuity. Strabismus has a greater incidence in developmental cataract compared to the general population, and can influence visual acuity, especially in monolateral and total cataracts. Intraocular lens implants produced satisfactory visual rehabilitation.
Refractive accommodative esotropia is a common type of strabismus in which uncorrected hyperopia ... more Refractive accommodative esotropia is a common type of strabismus in which uncorrected hyperopia causes an increase in accommodative force that leads to convergence when the functioning divergence is insufficient. It is characterized by high hyperopia, esotropia, and a normal ac-
To evaluate the efficiency and safety of iontophoretic transepithelial corneal crosslinking in pe... more To evaluate the efficiency and safety of iontophoretic transepithelial corneal crosslinking in pediatric patients with progressive keratoconus underwent general or topical anesthesia in 18 months follow-up. 13 patients (13 eyes) diagnosed with progressive keratoconus underwent corneal CXL with iontophoresis (I-CXL). Riboflavin solution was administered by iontophoresis for 5 min, and then UV-A irradiation (10 mW/cm) was performed for 9 min. Preoperative and post-operative visits at 1, 6, 12, and 18 months assessed the following parameters: uncorrected visual acuity (UCVA), best-corrected visual acuity (BCVA), slit-lamp biomicroscopy, corneal topography, optical tomography, and pachymetry with Pentacam (Oculus Optikgeräte GmbH, Wetzlar, Germany), endothelial biomicroscopy (Konan Specular Microscope; Konan Medical, Inc., Hyogo, Japan). The paired Student t test was used to compare data during the follow-up. 10 males and 3 females with a mean age of 15.4 ± 1.7 years (range 11-18 years) were included. The results showed a stabilization of the refractive UCVA and BCVA as early as the first post-operative month, with a slight improvement over time. The Kmax remained stable throughout follow-up (p = 0.04). Transepithelial collagen crosslinking by iontophoresis, unlike other transepithelial techniques seems to halt pediatric keratoconus progression over 18 months. This is the second study evaluating CXL with iontophoresis in pediatric patients with progressive keratoconus with 18 months of follow-up using two different ways of anesthesia.
Purpose To evaluate circumpapillary retinal nerve fiber layer (cpRNFL) and ganglion cell complex ... more Purpose To evaluate circumpapillary retinal nerve fiber layer (cpRNFL) and ganglion cell complex (GCC) after ocular blunt trauma. Methods Best-corrected visual acuity (BCVA), cpRNFL and GCC were evaluated by RTVue-100 OCT in all consecutive patients with previous monocular blunt trauma seen between January 2012 and December 2012. Results Twenty-two patients (11 females, 11 males, mean age 43.9±14.2 years) were included in the study. Patients were seen after a mean of 8.42 ± 13.3 (range, 0.08-55.3) years from ocular blunt trauma. BCVA was normal in 11 cases and was less than 0.4 LogMAR in all cases. In 9/22 patients (40.9%), cpRNFL and GCC were reduced, whereas in one case an isolated reduction of GCC with normal cpRNFL was present. In patients with reduction of cpRNFL and GCC, mean BCVA was 0.17 ± 0.17 LogMAR. In 6/9 patients (66.6%) with cpRNFL and GCC reduction, BCVA was r0.1 LogMAR. Conclusion cpRNFL and GCC reduction may be present after ocular blunt trauma and may be associated with preserved visual acuity.
Accommodative esotropia (AE) is a convergent deviation due to an excess of the convergence linked... more Accommodative esotropia (AE) is a convergent deviation due to an excess of the convergence linked to the innervational stimulus for accommodation and it is usually associated to the presence of hyperopia. The development of hyperopia over time has been widely described but the lack of comparative analysis among accommodative esotropia subtypes, does not allow to verify the existence of different developmental patterns. In this study we aimed to describe the long term changes of refractive error in patients affected by accommodative esotropia as a function of the strabismus type: refractive (RAE), non-refractive (NRAE) and partially accommodative esotropia (PAE). The medical records of 66 patients (24 RAE, 22 PAE, 20 NRAE), who wore the full correction of their cycloplegic refraction error during the entire follow up period, were retrospectively reviewed. Mean outcome was the analysis of the variations, among groups, of refractive error over time; differences between mild (3.00D) and high (!5.00D) hyperopia, effects of amblyopia and relationship with AC/A ratio were also investigated. All patients were followed up from approximately 4 years of age to 20, with mean follow up of 16.06±0.29 years. Our results described similar non-linear trend of refractive error development among groups. The initial increase of hyperopia (up to 7-8 years) was followed by a decreasing trend persisting up to adulthood (approximately 20 years of age). During this period, spherical equivalent decreased at a lower mean annual rate in patients affected by RAE (-0.07D) compared to other groups (NRAE-0.11D, p = 0.003 and PAE 0.13D, p = 0.002). In all groups, however, significant amount of hyperopia was found at last examination; indeed the observed difference in SE values from baseline to the end of follow up, was not significant (RAE: +0.27D, 95% C.I.-0.49 to +1.04D, p = 0.472; PAE:-0.69D, 95% C.I.-1.67 to +0.28D, p = 0.154; NRAE:-0.39D, 95% C.I.-1.11 to +0.34D, p = 0.278). AC/A ratio, amblyopia and amount of initial hyperopia appeared to have no significant role in longitudinal change of the refractive error. In conclusion, this study provides a complete overview, from childhood to adulthood, of refractive error development in different form of accommodative esotropia.
AIM. To characterize by multimodal approach the phenotype of patients from a three generations pe... more AIM. To characterize by multimodal approach the phenotype of patients from a three generations pedigree, affected by autosomal dominant cone-rod dystrophy (CRD), found to carry a novel pathogenic variant in the CRX gene. METHODS. Examination of the adult patients included: visual acuity, multicolour imaging, spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and OCT Angiography (OCT-A) recordings. In a 2.5 years old child, cycloplegic refraction, fundoscopy, ocular motility evaluation and electrophysiological exams were performed. Next Generation Sequencing of patients' DNA has been carried out. RESULTS. A novel CRX pathogenic variant has been identified in our patients. The 2.5 years old child in the third generation was found to have inherited the variant, with no clinical signs of the condition, but electroretinographic abnormalities in the scotopic component. In the adult patients diffuse atrophy of the RPE/photoreceptor complex in the macular region was evident at the OCT and FAF, while OCT-A showed choriocapillaris density reduction. CONCLUSIONS. Multimodal study allowed the characterization of a peculiar form of CRD. The novel pathogenic variant seems to have a different effect on the phenotype if compared with a previously described similar one, giving an insight into the pathogenic mechanism of CRX-related retinal dystrophies and offering valuable information in consideration of possible future therapies.
Down syndrome (DS) is caused by a chromosomal anomaly and is characterized, among other alteratio... more Down syndrome (DS) is caused by a chromosomal anomaly and is characterized, among other alterations, by a high rate of ocular abnormalities of the eyelids, cornea, iris, lens, retina, and optic disc, leading to amblyopia, strabismus, nystagmus, and other pathologies (1). Epidemiologic studies on the incidence of ocular anomalies in children with DS tend to show great variability depending on the population that was examined (2-4). The present study identifies the incidence of ocular anomalies in 157 Italian children with DS.
Purpose: To compare efficiency and safety of epithelium-off corneal cross-linking (CXL) and trans... more Purpose: To compare efficiency and safety of epithelium-off corneal cross-linking (CXL) and transepithelial cross-linking (TE-CXL) in pediatric patients with progressive keratoconus. Methods: Uncorrected and corrected visual acuity, corneal topography and pachymetry (Pentacam; Oculus Pentacam), and in vivo confocal microscopy (HRT II,
Graefes Archive for Clinical and Experimental Ophthalmology, Aug 22, 2017
Purpose To assess whether infantile visual deprivation induced by developmental cataract may infl... more Purpose To assess whether infantile visual deprivation induced by developmental cataract may influence the conedriven retinal function in humans. Methods A total of 14 patients with history of bilateral developmental cataract (DC), who had undergone uncomplicated cataract extraction surgery and intraocular lens implant, and 14 healthy subjects (HS) were enrolled. All patients underwent complete ophthalmological and orthoptic evaluations and best-corrected visual acuity measurement. Lightadapted full-field electroretinograms (ERG) and photopic negative responses (PhNR) were recorded to obtain a reliable measurement of the outer/inner retinal function and of the retinal ganglion cells' function, respectively. Result Mean values of light-adapted ERG a-and b-wave implicit times were slightly delayed when compared to HS values. Light-adapted ERG a-wave amplitude mean values showed borderline values (p = 0.001), whereas a-wave amplitude analysis at 5 ms, b-wave and PhNR amplitude mean values showed no significant differences when compared to control values. No significant correlations were found when age at surgery, time elapsed from surgery, duration of the visual deprivation, age at examination, age at first detection of the opacity, BCVA and electrophysiological parameters were plotted together. Coherently with morphological studies, the extremely light bioelectrical impairment of the cone pathway in our cohort of patients describes minimal functional abnormalities of a wellstructured retina that is not completely mature. Conclusions Our present results, combined to those of our previous work on congenital cataracts, allow us to enhance the comprehension of functional developmental mechanisms of children's retinas and highlight the relevance of the timely treatment of lens opacities during infancy.
To assess whether the early light deprivation induced by congenital cataract may influence the co... more To assess whether the early light deprivation induced by congenital cataract may influence the cone-driven retinal function in humans. Methods: Forty-one patients affected by congenital cataract (CC) who had undergone uncomplicated cataract extraction surgery and intraocular lens implant, and 14 healthy subjects (HS) were enrolled. All patients underwent complete ophthalmological and orthoptic evaluations and best-corrected visual acuity (BCVA) measurement; light-adapted full-field electroretinograms (ERG) and photopic negative responses (PhNR) were recorded to obtain a reliable measurement of the outer/inner retinal function and of the retinal ganglion cells' function respectively. Results: Mean values of light-adapted ERG a-and b-wave and PhNR amplitude of CC eyes were significantly reduced and photopic ERG b-wave implicit time mean values were significantly delayed when compared to HS ones. When studying photopic ERG mean amplitudes at 5 ms, significant differences were found when comparing CC and control eyes. In CC eyes, statistically significant correlations were found between a-and b-wave amplitudes and PhNR amplitudes. No significant correlations were found between ERG parameters and BCVA, as well as between the age of CC patients at surgery and the time elapsed from lens extraction. No significant differences were found when functional parameters of bilateral and unilateral congenital cataract (uCC) eyes were compared, however uCC eyes showed significant differences when compared with contralateral healthy eyes. Conclusion: We found a significant impairment of cone-driven retinal responses in patients with a history of congenital cataract. These changes might result from the longlasting effects of early light deprivation on the cone retinal pathways. Our findings support the relevance of retinal involvement in deficits induced by early light deprivation.
IntroductIon. Refractive surgery has the potential to be a definitive treatment for accommodative... more IntroductIon. Refractive surgery has the potential to be a definitive treatment for accommodative esotropia, yet it has not been widely embraced. This article reviews the current literature on refractive surgery to treat accommodative esotropia. Methods. A literature search was performed using the following terms: refractive surgery, photorefractive keratectomy, laser-assisted keratomileusis, intraocular lens, hyperopia, accommodative esotropia, children, pediatric. results. Fifteen series of patients treated with refractive surgery for accommodative esotropia were identified and summarized. conclusIons. Refractive surgery holds promise for the treatment of accommodative esotropia, although treatment risks are present and additional investigation is needed.
Background/aims Tomographic analysis of macular and peripapillary retinal nerve fibers layer (RNF... more Background/aims Tomographic analysis of macular and peripapillary retinal nerve fibers layer (RNFL) thickness in patients with history of congenital (CC) and developmental cataract (DC). Methods Analysis of macular and RNFL thickness using a spectral-domain optical coherence tomography was performed. Retinal layers thickness was measured using the internal segmentation software. Measurements of affected (unilateral and bilateral), contralateral eyes and control eyes were compared. Results Patients with history of CC or DC (n = 13 and 11 respectively) and 35 healthy control subjects were enrolled. Thicker inner and outer nuclear layers (INL, ONL) and thicker ONL were found when CC and DC group when compared to controls respectively. Bilateral CC showed the most relevant differences. Slight thickening of CC inner retinal layers were found when compared to DC. Increased superonasal RNFL thickness was found in CC group when compared to DC and controls. Thickening of RNFL of contralatera...
Background Best vitelliform macular dystrophy (BVMD) is an autosomal dominant macular degeneratio... more Background Best vitelliform macular dystrophy (BVMD) is an autosomal dominant macular degeneration. The typical central yellowish yolk-like lesion usually appears in childhood and gradually worsens. Most cases are caused by variants in the BEST1 gene which encodes bestrophin-1, an integral membrane protein found primarily in the retinal pigment epithelium. Methods Here we describe the spectrum of BEST1 variants identified in a cohort of 57 Italian patients analyzed by Sanger sequencing. In 13 cases, the study also included segregation analysis in affected and unaffected relatives. We used molecular mechanics to calculate two quantitative parameters related to calcium-activated chloride channel (CaCC composed of 5 BEST1 subunits) stability and calcium-dependent activation and related them to the potential pathogenicity of individual missense variants detected in the probands. Results Thirty-six out of 57 probands (63% positivity) and 16 out of 18 relatives proved positive to genetic ...
Introduction. Refractive surgery has the potential to be a definitive treatment for accommodative... more Introduction. Refractive surgery has the potential to be a definitive treatment for accommodative esotropia, yet it has not been widely embraced. This article reviews the current literature on refractive surgery to treat accommodative esotropia. Methods. A literature search was performed using the following terms: refractive surgery, photorefractive keratectomy, laser-assisted keratomileusis, intraocular lens, hyperopia, accommodative esotropia, children, pediatric. Results. Fifteen series of patients treated with refractive surgery for accommodative esotropia were identified and summarized. Conclusions. Refractive surgery holds promise for the treatment of accommodative esotropia, although treatment risks are present and additional investigation is needed.
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Papers by Adriano Magli