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Background: Acute exudative polymorphous vitelliform maculopathy is a presumed retinal pigment epithelium abnormality that has been reported in patients with neoplasms and under certain classes of drugs. The pathophysiology remains unclear, despite the typical clinical features., Purpose: To report two cases of acute exudative polymorphous vitelliform maculopathy occurring after vaccination with a COVID-19 vaccine., Case Reports: Two adult patients presented with visual disturbance after inoculation with a COVID-19 vaccine. The patients were otherwise healthy and have no family history of retinal dystrophies. Both cases exhibited the following features on multimodal imaging: multifocal hyporeflective lesions involving the macula, elongated photoreceptors, accumulated vitelliform material exhibiting autofluorescence, and lack of fluorescein dye leakage. Evidence of retinal pigment epithelium dysfunction was confirmed by electrooculography., Conclusion: Two cases of acute exudative polymorphous vitelliform maculopathy occurring after COVID-19 vaccination were reported. A relationship between the vaccine and the retinal pigment epithelial abnormality development that led to acute exudative polymorphous vitelliform maculopathy was postulate, possibly through autoantibodies against the severe acute respiratory syndrome coronavirus 2 virus structural surface glycoprotein antigens that cross react with the normal retinal pigment epithelial cells.

Background: Inherited retinal diseases form a rare, highly heterogeneous group of genetic disorders characterized by retinal degeneration. It is considered one of the leading causes of debilitating visual loss and blindness in children and young adults. Despite this few population-based data studies on prevalence of inherited retinal diseases exist. Moreover, prevalence can vary widely depending on geographical area, population ethnicity and cultural habits., Purpose: To report the prevalence of different subtypes of Inherited retinal diseases in a large Egyptian cohort in a retrospective, hospital-based, cross-sectional study., Methods: We conducted an extensive electronic medical record search for all the patients attending the outpatient clinic and investigation unit of Ain Shams University Hospital and the two branches of Watany Eye Hospital in the period between January 2015 and October 2022 aiming to identify the prevalence rate of different types of IRDs, patient demographics and stratify them according to their phenotype., Results: We examined the electronic medical records of 478 222 patients, 971 patients were diagnosed with IRD by clinical examination with or without any of the following investigations: color fundus photography, fundus autofluorescence, fundus fluorescein angiography, optical coherence tomography and/or electrophysiological studies as electroretinogram, visual evoked potential and electrooculogram. The overall prevalence was 0.2%. The most common IRD encountered was isolated retinitis pigmentosa with a percentage of 78.9% followed by Stargardt disease at 6.3%, cone-rod dystrophy at 2.0%, autosomal recessive bestrophinopathy at 1.9% and unspecified IRD at 1.5%., Conclusion: Retinitis pigmentosa was the most common IRD encountered followed by Stargardt disease. Many of the dystrophies are the subject of clinical intervention trials, and population-based epidemiological data can guide phenotype-based genetic testing and help assess the future need for treatment., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Background: Harel-Yoon syndrome (HAYOS) is a recently described neurodevelopmental disorder characterized by psychomotor delay, truncal hypotonia, appendicular spasticity, and peripheral neuropathy. It is caused by mutations in ATAD3A gene located on chromosome 1p.36.33 whose functions include mitochondrial DNA stabilization, the regulation of mitochondrial fission/fusion, and cholesterol homeostasis., Materials and Methods: An 11-year-old male patient of consanguineous Egyptian parents, who present with neuroregression and ptosis along with progressive impaired vision, undergoes complete ophthalmological and neurological examination. Additionally, color fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) of both the macula and optic nerve head, full field electroretinogram (ERG), and visual field perimetry were obtained. Whole-exome sequencing and mitochondrial genome sequencing were done in a commercial laboratory from a peripheral blood sample., Results: A novel mutation in ATAD3A gene c.624_644del was identified by whole-exome sequencing consistent with a diagnosis of Harel-Yoon Syndrome (HAYOS). The 11-year-old boy had characteristic features of neurodevelopmental delay, hypotonia, and peripheral neuropathy. However, we documented some novel features as fatiguable ptosis, facial weakness, progressive bulbar palsy, obsessive-compulsive disorder (OCD) in addition to cone system dysfunction., Conclusion: Our study reports a novel mutation in ATAD3A gene and expands the clinical spectrum of Harel-Yoon Syndrome. Future research aiming at better understanding of gene function will lead to better genotype-phenotype correlation and could pave the way to more treatment options.

Purpose: To describe a new ocular phenotype in a single Egyptian family associated with a heterozygous noncoding mutation in the North Carolina macular dystrophy (NCMD/MCDR1) locus, likely affecting the PRDM13 gene., Methods: A retrospective, clinical chart review of 11 members of a four-generation family. Comprehensive ophthalmic examinations included visual acuity, refraction, fundus imaging, spectral-domain optical coherence tomography, and full-field electroretinography. Molecular genetic analysis of the MCDR1 region was performed using whole genome and targeted sequencing. The main outcome measures were DNA sequence variants, clinical, retinal imaging, and electroretinography findings., Results: The five affected adult family members tested carried a single heterozygous mutation in a noncoding region (Chr6:100,046,783A>C) located 7.8 kb upstream of PRDM13. Visual acuity ranged from 20/200 to 20/400. All members had extensive chorioretinal absence/thinning extending outside of the maculae with extensive posterior bowing of the choroid and sclera centered in the macula giving a large macular coloboma-like appearance. Two additional members had cystoid fluid, and one had macular detachment. Full-field electroretinography revealed reduced cone and rod responses in all affected members., Conclusion: The phenotype of this disease falls between the spectrum of progressive bifocal chorioretinal atrophy and NCMD. The findings are most consistent with progressive bifocal chorioretinal atrophy with the exception that there is no bifocal nature to the appearance nor is it progressive. Another view is that the phenotype seems to be an extremely severe form of NCMD. Given that this disease falls in between progressive bifocal chorioretinal atrophy and NCMD, we propose calling it congenital posterior polar chorioretinal hypoplasia.

Background: Oguchi disease is a rare type of congenital stationary night blindness associated with an abnormal fundus appearance. It is inherited in an autosomal recessive manner where two types exist according to the gene affected; type 1 associated with S-antigen (SAG) gene mutations and type 2 associated with rhodopsin kinase (GRK1) gene mutations., Purpose: The aim of this work was to describe the clinical and genetic findings of the first two reported families of Oguchi disease in Egypt and African region., Methods: Four members of two consanguineous Egyptian families with history of night blindness since childhood underwent complete ophthalmological examination, standard automated static perimetry, fundus color photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FFA) in light-adapted state and spectral-domain optical coherence tomography (SD-OCT) of both the macula and the optic nerve head as well as central corneal thickness with repeated fundus photography following prolonged dark adaptation. Mutation screening of 7 coding exons of GRK1 gene and 15 coding exons of SAG gene as well as some flanking regions were performed using Sanger sequencing technique. The variants were tested for pathogenicity using different in silico functional analysis tools., Results: The clinical examination and investigations confirmed Oguchi disease phenotype. One patient showed p.R193* (c.577C > T) which is a previously reported SAG gene mutation in a homozygous form. The other three patients from a different family showed (c.649-1 G > C), a novel canonical splice site SAG gene mutation in a homozygous form., Conclusion: The identification of the novel canonical splice site SAG gene variant in three members of the same family with clinically confirmed Oguchi disease reinforces its pathogenicity. A fourth patient from another family carried a previously reported mutation in the same gene. SAG gene variants may be the underlying genetic cause for Oguchi disease in Egypt. Our findings have expanded the spectrum of Oguchi disease-associated mutations in SAG gene and may serve as a basis for genetic diagnosis for Oguchi disease., (© 2022. The Author(s).)

Introduction: Exfoliation syndrome is an age-related disease leading to ocular and systemic complications. We aimed to evaluate the prevalence of exfoliation syndrome (XFS) in Egypt and its association with cataract as one of its comorbidities., Methods: In a retrospective, hospital-based study, 155,032 Egyptians aged over 40 years from all 27 Egyptian governorates were evaluated for the prevalence of XFS and cataract in the period between January 2015 and June 2020., Results: A total of 2448 (1.6%) of the studied subjects had XFS. Their mean age was 71.2 ± 9.62 years which was significantly higher than those of subjects with no XFS. Men comprised 1348 (55.1%) of those diagnosed with XFS and this association was statistically significant (OR 1.57, 95% CI 1.45-1.70). Considering the ratio between subjects in our cohort from each region and its real population, the overall corrected prevalence in Egypt was 4.49% (Territorial regions 6.89%, Upper Egypt 5.51%, Lower Egypt 4.38%, and Greater Cairo 3.29%). Among all subjects with XFS, cataract was found in 2150 subjects (87.8%) and XFS represented 6.4% of all subjects diagnosed with cataract in our cohort (n = 33,610). Among subjects with no cataract (n = 121,422), 298 subjects had XFS (OR 0.04, 95% CI 0.03-0.04)., Conclusion: Egypt has a moderate XFS prevalence compared to other countries. There is a strong association between XFS and cataract, and XFS was more common in elderly males. The results can be explained by differences in diet, ethnicity, climate, and maybe other factors., (© 2021. The Author(s).)