Retinal vascular alterations associated with dome-shaped and mushroom-shaped choroidal melanomas

Purpose: Retinal vascular abnormalities are associated with choroidalmelanoma. Although tumor ischemia, resulting in soluble angiogenic factorproduction, is a proposed etiology of these abnormalities, other sources ofischemia may also contribute. Mushroom-shaped choroidal melanomas haveincreased loss of the overlying choriocapillaris and increased subretinal fluidwhen compared to dome-shaped tumors; factors that may result in outer retinalischemia, angiogenic factor production and resultant retinal vascular abnormalities.The differing amounts of retinal vascular abnormalities overlying dome-shapedcompared to mushroom-shaped melanomas were determined to evaluate thishypothesis. Methods: Retinal vascular abnormalities observed on fluoresceinangiograms of eyes with choroidal melanoma were compared to the tumor configuration and presence of subretinal fluid. Results: 23 eyes of 22 patients were included in the study. Retinal vascular abnormalities observed included dilated capillaries, telangiectatic capillaries, capillary nonperfusion, microaneurysms, neovascularization, lipid exudation and late staining of dye within the retina. Retinal vascular abnormalities were present in 4 of 14 eyes with dome-shaped tumors (29%) and in 8 of 9 eyes with mushroom-shaped tumors (89%). (Fisher's Exact Test, p=0.009). Retinal vascular abnormalities were present in 2 of 10 eyes without subretinal fluid (20%) and in 10 of 13 eyes with subretinal fluid (77%). (Fisher's Exact Test, p = 0.012). Conclusions: Retinal vascular abnormalities are associated with mushroom-shaped choroidal melanomas more commonly than dome-shaped tumors. Outer retinal ischemia may result from choriocapillaris loss or the presence of subretinal fluid, contributing to soluble angiogenic factor production and resultant retinal vascular abnormalities in these eyes. Summary statement: Retinal vascular abnormalities are associated with mushroom-shaped choroidal melanomas more commonly than dome-shaped tumors. These retinal vascularabnormalities may be related to an increase in outer retinal ischemia associated withmushroom-shaped tumors.     

Classification of chromosomal eye syndromes

Human chromosome disease arises from a change in the number or structure of one or more chromosomes. The multiple genes represented in the duplicated or deleted chromosomes are not usually defective and any systemic abnormalities can be attributed to a change in gene dosage. Banding techniques are now commonly used to identify each chromosome and the specific chromosome duplication and deletion and structural rearrangements can now be identified unambiguously.Most ocular abnormalities have occurred in patients with chromosomal defects. Major ocular abnormalities, such as anophthalmia, cyclopia, retinoblastoma, microphthalmia, corneal opacities, coloboma, cataracts, intraocular cartilage, retinal dysplasia and absent optic nerves; and, minor abnormalities, such as ptosis, abnormal eyelid fissures, and Brushfield spots are present in individuals with abnormal chromosomes. The chromosome errors are usually present in all somatic tissues. Consequently, multiple tissue abnormalities would be expected in most patients with chromosome abnormalities. Mental retardation is very common in those patients with abnormalities of autosomes. Therefore, it is unlikely that an isolated single clinical or histopathological ocular abnormality will be the result of a chromosome error. However, if the individual has multiple systemic abnormalities, then a chromosome error can be considered reasonably. Any chromosome disorder can be identified correctly by an appropriate banding chromosome determination on the affected individuals. With the possible exception of the association of 13ql4- and retinoblastoma, there does not appear to be any pathognomonic ocular abnormalities that occur in individuals with chromosome errors.     

Quantification and anatomic distribution of choroidal abnormalities in patients with type I neurofibromatosis

Background Choroidal abnormality manifesting as a bright patchy lesion under infrared monochromatic light has previously been described in neurofibromatosis type I patients in whom the choroid appears normal under conventional ophthalmoscopic examination or on the fluorescein angiogram. We investigated the correlation between patient age and the number of choroidal abnormalities, as well as the anatomic distribution of choroidal abnormalities in the fundus. Methods We examined the fundus of 28 eyes in 14 patients with neurofibromatosis type I. Patients ranged in age from 2 to 38 years and were examined between April 2001 and April 2002 by confocal scanning laser ophthalmoscopy with infrared monochromatic light (780 nm wavelength). We divided the fundus into five regions (one within the retinal vascular arcade and those supero-temporal, infero-temporal, supero-nasal, and infero-nasal to it), and lesions on the border between regions were assigned to the region containing the greater part of the lesion. We studied the total number of choroidal abnormalities and the correlation between the total number and age. Results A positive correlation was found between the total number of choroidal abnormalities and age (Spearman rank correlation coefficient, r=0.6209, P=0.0178). There was a significantly greater number of choroidal abnormalities in the arcade region than in the other four regions (ANOVA, P<0.001). Conclusions Choroidal abnormalities tend to increase with age and are most often observed within the vascular arcade.     

Pigmentary retinopathy in patients with the MELAS mutation 3243A→G in mitochondrial DNA

BACKGROUND: Our objective was to determine the penetrance of retinal pigment epithelium (RPE) abnormalities and other ophthalmologic manifestations in patients with the 3243A-->G mutation in mitochondrial DNA. METHODS: Adult members in two generations were examined from a population-based cohort of 13 pedigrees with 3243A-->G. Twenty-six patients underwent a thorough ophthalmological examination. A chart review was carried out on an additional 44 patients. RESULTS: Paramacular RPE atrophy and areas of hyperpigmentation were found in 10 patients (38%; 95% confidence interval 20-59%). Electroretinography was normal in only one of the eight patients tested, whereas dark adaptation was abnormal in two. RPE abnormalities were associated with more severe clinical phenotypes and higher degrees of 3243A-->G mutation heteroplasmy in muscle. Ten patients had diabetes mellitus, nine of whom had also RPE abnormalities. This finding, however, reflected the severity of the phenotype, and diabetic retinopathy was confidently diagnosed in only two patients. External ophthalmoplegia was detected in occasional patients. CONCLUSION: RPE abnormalities were found in this population-based cohort at a frequency that was lower than that reported earlier. RPE abnormalities were associated with more severe phenotypes, suggesting that they are expressed in patients with syndromic features. RPE abnormalities and diabetes mellitus co-occurred frequently, but diabetic retinopathy was not common.     

Inflammation in diabetic retinopathy

Diabetes causes a number of metabolic and physiologic abnormalities in the retina, but which of these abnormalities contribute to recognized features of diabetic retinopathy (DR) is less clear. Many of the molecular and physiologic abnormalities that have been found to develop in the retina in diabetes are consistent with inflammation. Moreover, a number of anti-inflammatory therapies have been found to significantly inhibit development of different aspects of DR in animal models. Herein, we review the inflammatory mediators and their relationship to early and late DR, and discuss the potential of anti-inflammatory approaches to inhibit development of different stages of the retinopathy. We focus primarily on information derived from in vivo studies, supplementing with information from in vitro studies were important.     

Fraser syndrome. A case report

Fraser syndrome is a rare autosomal recessive disorder; the most consistent features are cryptophthalmos, syndactyly of fingers and toes, laryngeal stenosis, and urogenital abnormalities. We report a newborn case at day 1 of life who had multiple abnormalities, born from a consanguineous marriage. Clinically, the newborn had an ankyloblepharon on the left side, a cryptophthalmos on the right side, a syndactyly, anorectal abnormalities with ambiguous genitalia, laryngeal stenosis, and ear malformations. TDM of the cranium and orbits and the transfontanel ultrasound were normal. The abdominal ultrasound showed renal abnormalities. Right eye surgery showed a reduced cornea to an opaque thin plate clinging to the iris without an anterior chamber and a nonindividualized eyeball. The authors discuss the morphological abnormalities, the clinical and paraclinical aspects of this syndrome, its multispecialized clinical management, and the importance of prenatal diagnosis.     

先天性脑神经异常支配眼病的分子遗传学与神经科学研究进展

先天性脑神经异常支配眼病(CCDDs)为一组先天性、非进行性一条或多条脑神经发育异常或缺失,从而导致的原发或继发脑神经异常支配眼外肌的斜视综合征,可散发或家族遗传,可伴有全身系统异常。近年来随着神经病理学、神经影像学、遗传学的研究进展,不仅明确了CCDDs的病因是神经源性的眼球运动障碍,也发现了CCDDs的致病基因,包括SALL4、HOXA1、KIF21A、PHOX2A、TUBB3及HOXB1等。针对基因突变影响大脑神经发育从而进一步导致先天性脑神经支配异常性病变发生这一问题,文章回顾了近年国内外相关文献,就已知的CCDDs的分子遗传学和神经科学研究进展作一综述,以期为CCDDs的临床和基础研究提供参考。     

Novel membrane frizzled‐related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds

Purpose: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, with nanophthalmos and macular folds. Methods: Ophthalmological examination, general paediatric examination and molecular genetic analysis of the MFRP gene were performed in both affected siblings. Results: Clinical analysis showed high hyperopia (+11 D and +12 D), short axial lengths (15 mm) and the presence of macular folds and optic nerve head drusen. Autofluorescence of the retina was generally normal with subtle macular abnormalities. Sequence analysis showed compound heterozygosity for severe MFRP mutations in both sisters: a previously reported p.Asn167fs (c.498dupC) and a novel stop codon mutation p.Gln91X (c.271C>T). Conclusion: These are the youngest nanophthalmos patients in the literature identified with severe loss of MFRP function, showing already the known structural abnormalities for this disease. Adult patients affected by homozygous or compound heterozygous MFRP mutations generally show signs of retinal dystrophy, with ERG disturbances and RPE abnormalities on autofluorescence imaging. ERG examination could not be performed in these children, but extensive RPE abnormalities were not seen at this young age.     

Drusen-associated degeneration in the retina

PURPOSE. Drusen are variably sized extracellular deposits that form between the retinal pigmented epithelium (RPE) and Bruch's membrane. They are commonly found in aged eyes, however, numerous and/or confluent drusen are a significant risk factor for age-related macular degeneration. The purpose of this study was to investigate the impact of drusen on overlying cells of the retina. METHODS. Tissue containing retina and RPE/choroid was dissected from human donor eyes, embedded in agarose, and sectioned at 100 micro m using a vibratome. Sections were immunostained with a panel of antibodies that labeled glial cells, first-, second-, and third-order retinal neurons and processed for confocal microscopy. RESULTS. Retinal cells that overlie both soft and hard drusen exhibited numerous structural and molecular abnormalities. Normally detectable only in the outer segments of rod photoreceptors, rod opsin immunolabeling was also observed in the inner segment, cell body, axon, and axon terminal of photoreceptors that overlie drusen. Labeling with this antibody also revealed the deflection and shortening of rod inner and outer segments. Cone photoreceptors displayed similar structural abnormalities, as well as a decrease in cone opsin immunoreactivity. Drusen-associated abnormalities in the synaptic terminals of photoreceptor cells were also observed. In addition, an increase in intermediate filament protein immunoreactivity (vimentin and glial fibrillary acidic protein) was observed within Müller glial cells in areas of retina overlying drusen. Both soft and hard drusen were associated with a similar spectrum of effects in both macular and extramacular regions. Second- and third-order neurons, including bipolar, horizontal, amacrine, and ganglion cells all appeared unaffected. The structural and molecular abnormalities observed in photoreceptors and Müller glial cells were confined to retinal regions directly overlying and immediately adjacent to drusen; more distant retinal regions appeared unperturbed. Remarkably, significant abnormalities were observed over small subclinical drusen. CONCLUSIONS. Retinal cells overlying both soft and hard drusen exhibit structural and molecular abnormalities indicative of photoreceptor degeneration and Müller glial activation. These abnormalities resemble the degenerative effects common to many forms of retinal degeneration, but are confined to areas directly overlying drusen. This suggests that photoreceptor cell function is compromised as a consequence of drusen formation.     

A comparison of multifocal ERG and frequency domain OCT changes in patients with abnormalities of the retina

To compare the ability of the multifocal electroretinogram (mfERG) and frequency domain optical coherence tomography (fdOCT) to detect retinal abnormalities. A total of 198 eyes (100 patients) were referred by neuro-ophthalmologists to rule out a retinal etiology of visual impairment. All patients were evaluated with static automated perimetry (SAP) (Humphrey Visual Field Analyzer; Zeiss Meditec), mfERG (Veris, EDI) and fdOCT (3D-OCT 1000, Topcon). The mfERG was performed with 103 scaled hexagons and procedures conforming to ISCEV standards (Hood DC et al. (2008) Doc Ophthalmol 116(1):1–11). The fdOCT imaging included horizontal and vertical line scans through the fovea. Local mfERG and fdOCT abnormalities were compared to local regions of visual field sensitivity loss measured with SAP and categorized as normal/inconclusive or abnormal. 146 eyes were categorized as normal retina on both fdOCT and mfERG. The retina of 52 eyes (36 patients) was categorized as abnormal based upon mfERG and/or fdOCT. Of this group, 25 eyes (20 patients) were abnormal on both tests. However, 20 eyes (13 patients) were abnormal on mfERG, while the fdOCT was normal/inconclusive; and 7 eyes (7 patients) had normal or inconclusive mfERG, but abnormal fdOCT. Considerable disagreement exists between these two methods for detection of retinal abnormalities. The mfERG tends to miss small local abnormalities that are detectable on the fdOCT. On the other hand, the fdOCT can appear normal in the face of clearly abnormal mfERG and SAP results. While improved imaging and analysis may show fdOCT abnormalities in some cases, in others early damage may not appear on structural tests.     

Bilateral oculomotor abnormalities in strabismic amblyopes: evidence for a common central mechanism

The preferred eyes of strabismic amblyopes, generally presumed to be normal, have been implicated by recent studies as manifesting oculomotor abnormalities. We sought to determine whether these motor abnormalities occurred together and, if so, whether they could be related to a single underlying deficit. Occurring together in the preferred eyes of our strabismic amblyopes were: unsteady fixation (consisting of nasal drifts alternating with temporal saccades), minute fixational eccentricity (as indicated by eccentric directionalization of the Maxwell spot) and asymmetries of pursuit tracking. These motor abnormalities of the preferred eye are attributable to the presence of high-velocity nasal drifts. Since nasal drifts also account for several qualitatively similar motor abnormalities exhibited under monocular conditions by the fellow amblyopic eye, we conclude that a centrally-generated nasal drift bias is responsible for anomalous oculomotor behaviors of both eyes of strabismic amblyopes.     

Ocular manifestations of children with atopic dermatitis in Saudi Arabia

AIM: To examine the incidence of ocular abnormalities in children with atopic dermatitis (AD) in Saudi Arabia and its association with the severity of AD. METHODS: This is a cross-sectional study on 50 children with AD who were between 5 and 16 years of age. The severity of AD was evaluated using the SCORing Atopic Dermatitis (SCORAD) index. All the children underwent slit lamp exams, visual acuity assessment, intraocular pressure measurement, and corneal topography. The children were considered to have an ophthalmic abnormality if one or more of the following signs were present: glaucoma, keratoconus suspicion, in addition to lid, conjunctival, corneal, lenticular, or retinal abnormalities. RESULTS: Based on the SCORAD severity index, 14% of children had mild AD (7/50), 38% had moderate AD (19/50), and nearly half had severe AD. More than half the children exhibited facial involvement, and half had peri-orbital signs. The mean SCORAD index was 35.75. The mean age was 10.48±3.6y, and the cohort showed a slight male predominance (54% males). Both eyes of the 50 children in the cohort were studied. Based on the ocular examinations, 92% of the patients showed ocular abnormalities: lid abnormalities (27/50) followed by keratitis (22/50). Four patients had moderate risk for keratoconus in one eye and eight patients were suspected to have keratoconus. However, SCORAD severity index was not associated with age, sex, or the number or presence of ophthalmic abnormalities. CONCLUSION: This is the first study in Saudi Arabia to evaluate the prevalence of ocular manifestations in children with AD. The results indicate that the majority of children with AD have ocular abnormalities that mainly include lid abnormalities. Based on these findings, larger scale studies are needed to affirm whether regular screening for ophthalmic abnormalities would be beneficial for children with AD in terms of early intervention and prevention of sight-threatening complications.     

Possibilities of photorefraction surgery in patients with subclinical retinal detachment in myopia

Peripheral retinal abnormalities detected in examinations of 4840 patients with myopia are analyzed. The incidence of subclinical detachments of the retina was 8.7%. Two-staged laser therapy of detachments and its results are discussed and laser refraction operations in such abnormalities of the fundus oculi are considered. Results of photorefraction operations of different types in patients previously operated on the retina by the laser method are analyzed. Only 5 patients needed repeated laser therapy on the fundus oculi during 3 years postoperation. Hence, photorefraction correction of refraction abnormalities can be carried out in patients with subclinical detachments of the retina after previous effective laser therapy.     

Visual evoked potentials in children with neurofibromatosis type 1

The purposes of this investigation were to determine: (a) if visual evoked potential (VEP) abnormalities could be identified in children with neurofibromatosis type 1 (NF1) with no evidence of optic pathway or brain neoplasias on MRI; and (b) if VEP abnormalities could be explained by the presence of hyperintense T2-weighted foci on MRI testing, known as unidentified bright objects (UBOs). To answer these questions, VEPs were recorded from 16 children with NF1 and compared to 13 normal subjects in the same age range tested with the same protocol. Pattern-reversal VEPs were recorded at four stimulus sizes both monocularly and binocularly, the latter to hemi-field stimuli. Flash VEPs were recorded in dark- and light-adapted conditions. VEP measurements and MRI readings for UBOs were conducted in a masked fashion. Ten of the 16 children with NF1 had abnormal VEPs to at least one of the four types of stimuli. Abnormalities included delayed responses (n=6), absent flash VEP P2 component (n=3), or both (n=1). Abnormalities of the P2 component of the dark-adapted flash VEP were the most common finding (n=7), although no single testing strategy was able to identify all children with abnormal VEPs. UBOs were present in all children, demonstrating that their presence does not fully account for VEP abnormalities in children with NF1. This study also demonstrates that VEP abnormalities are present also in the absence of neoplasias of the optic pathways or of the brain. Our results are suggestive of a primary abnormality of visual processing in children with NF1.     

Chorioretinal juncture. Multiple extramacular drusen

A clinicopathologic study of multiple extramacular drusen (MED) was performed on 784 eyes of 412 consecutive autopsies and on 100 eyes of 50 consecutive patients with MED. The clinical and histopathologic characteristics of MED and its correlation with reticular degeneration of the pigment epithelium (RDPE) and with macular degenerative abnormalities are presented. Multiple extramacular drusen was associated with macular degenerative abnormalities in 88% of autopsy cases, in contrast to 2% of cases in a control population without MED or RDPE. Multiple extramacular drusen and macular degenerative abnormalities are associated findings and apparently have similar pathogenetic mechanisms.     

Retinal vascular abnormalities and prevalence of age-related macular degeneration in adult Chinese: the Beijing Eye Study

PURPOSE: To evaluate whether retinal vessel abnormalities are associated with early or late age-related macular degeneration (AMD) in adult Chinese. DESIGN: Population-based prevalence study. METHODS: The Beijing Eye Study included 4439 (83.4%) subjects of 5324 living in a rural area or urban region of Greater Beijing, age older than 40+ years, and invited to participate. The participants underwent a detailed ophthalmic examination, including fundus photography. The photographs were graded using the Wisconsin Age-Related Maculopathy Grading system for evaluation of AMD, and using the Atherosclerosis Risk in Communities protocol for assessment of retinal vascular abnormalities. We examined focal and generalized arteriolar narrowing, arteriolar sheathing, and arteriovenous crossing abnormalities. RESULTS: Fundus photographs were available for 8655 eyes of 4376 (98.6%) subjects. Neither early nor late AMD was significantly (P > .15) associated with any of the retinal vascular abnormalities. CONCLUSIONS: Retinal vascular abnormalities are not markedly associated with the prevalence of early or late AMD.     

Prevalence of Macular Abnormalities Identified Only on Optical Coherence Tomography in Korean Patients Scheduled for Cataract Surgery

PurposeTo assess the prevalence of macular abnormalities identified only on macular optical coherence tomography (OCT) which were not suspected by biomicroscopic fundus examination, and examine the clinical outcome of patients with these macular abnormalities during preoperative evaluation for cataract surgery in a large series of Korean patients.MethodsMacular OCT was performed on patients scheduled for routine cataract surgery by the same physician at Seoul St. Mary’s Hospital, between June 2018 and November 2019. The patients’ medical records were reviewed retrospectively to obtain demographic data and the results of preoperative evaluation before cataract surgery. Patients were divided into two groups based on the preoperative macular OCT results: normal and abnormal OCT groups.ResultsNine hundred eighty-seven eyes (698 patients) were included in this study. Macular OCT identified abnormalities in 44 eyes (4.5%) of 35 patients (5.0%). Twenty-one eyes (2.1%) had age-related macular degeneration, 20 eyes (2.0%) had epiretinal membrane, and three eyes (0.3%) had lamellar hole. Patients with macular abnormalities identified on macular OCT had a statistically significant higher mean age than those who had normal OCT findings (p < 0.001). Best-corrected visual acuity was worse in patients with abnormal macular OCT after cataract surgery (p = 0.048).ConclusionsIn the preoperative evaluation for cataract surgery in Korean patients, one in every 20 patients had macular abnormalities identified only on macular OCT in spite of unremarkable macular findings on biomicroscopic funduscopy. Age was significantly higher in patients with abnormal macular OCT findings. Thus, inclusion of macular OCT examination in preoperative screening before routine cataract surgery would be beneficial.     

Late traction detachment in retinopathy of prematurity or ROP-like cases

Five cases of traction retinal detachment occurring later in life as a sequel of cicatricial retinopathy of prematurity or showing the clinical picture of retinopathy of prematurity are reported. They presented with taut membranes in vitreous cavity, causing traction retinal detachment, and often showed preretinal membranes. These membranes were collagen-rich and contained cells with glial characteristics. They seemed to be continuously produced on the surface of the retina from which they detached sometimes in multiple generations. It is likely that chronic exudation from vascular abnormalities is a stimulus for this proliferation. These cases are very similar to other vitreoretinal proliferations in association with vascular abnormalities (Coats' and von Hippel disease, exudative vitreoretinopathy). Supported by: Helena Rubinstein Foundation, N.Y., and Research to Prevent Blindness, N.Y.Presented at the Club Jules Gonin, Vienna, Austria, September 9, 1992     

The incidence,embryology, and oculofacial abnormalities associated with eyelid colobomas

Purpose

To describe a cohort of patients with congenital eyelid coloboma, to identify associated ocular and craniofacial abnormalities, and to establish any correlation between the size and location of eyelid colobomas and the presence of such abnormalities.

Methods

An observational case series of 55 patients with eyelid coloboma treated by a single surgeon (JROC) between 1985 and 2005.

Results

Eyelid colobomas predominantly affected the upper lids (93%), and were typically unilateral (76%). About a third (29%) were an isolated finding, with the remainder associated with other ocular (62%) and/or craniofacial (53%) abnormalities. Of those with ocular abnormalities; 19 (56%) had conjunctival traction bands, 16 (47%) choristomas, and 8 (24%) an abnormal globe. Of those with craniofacial abnormalities; 13 (45%) had Goldenhar Syndrome, 10 (35%) clefting disorders, and 4 (14%) Fraser Syndrome. Clefting disorders were typically associated with more severe colobomas and a higher incidence of conjunctival traction bands, first arch syndromes with smaller colobomas and more choristomas. Overall large colobomas were significantly associated with the presence of other craniofacial defects compared with small colobomas (P<0.01, χ²), but coloboma size did not correspond with the presence of other ocular abnormalities.

Conclusions

Coloboma size, location, and associations in this series are consistent with our current understanding of eyelid embryogenesis. It is likely that those colobomas associated with other craniofacial and ocular abnormalities are those which result from errors earlier in embryogenesis during eyelid specification, growth, and closure, whereas isolated colobomas arise later during eyelid separation, and after codependent structures have developed.     

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome

Background: To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2).

Material and methods: A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH).

Results: Macular abnormalities were observed in 126/268 (47.0%) examined eyes. The most frequent abnormality was ERM observed in 51 eyes (19%), followed by CME observed in 42 eyes (15.7%). Moreover, CME was significantly (p < 0.05) associated with younger age (CME: 30.1 ± 11.1 years; without CME: 36.9 ± 14.9 years), whereas VMT and full thickness MH were associated with older age (p < 0.05). Moreover, a significantly (p < 0.05) decreased best-corrected visual acuity was associated with MH compared to eyes without MH. Finally, CME was more frequent in USH1 compared to USH2.

Conclusion: Our study, for the first time in the literature, showed the distribution of all macular abnormalities assessed by SD-OCT in a large USH cohort, comparing USH1 and USH2 patients. We observed that ocular abnormalities are highly prevalent in USH patients compared to general population, with ERM and CME being the most common alterations. Based on these findings, OCT screening in USH patients is recommended for early detection of macular changes and early treatment.