ArticleDocumenta ophthalmologica. Advances in ophthalmology2026
Screening for RPE65 genetic variants in Egyptian children with inherited retinal disorders: a study from a tertiary eye care center in Egypt.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathogenic variants in the RPE65 gene cause various forms of inherited retinal dystrophies (IRD), which include Leber congenital amaurosis (LCA), early childhood-onset retinal dystrophy (ECORD), and various forms of retinitis pigmentosa (RP). To date, no study has characterised the heterogeneity of RPE65 variants associated with IRD in the Egyptian population. This study aimed to identify RPE65 pathogenic variants in a cohort of Egyptian children with IRD, with implications for gene therapy eligibility.
methodsA total of 44 patients in the paediatric age group (from birth to 18 years old), from 27 unrelated Egyptian families with non-syndromic IRD, underwent detailed ophthalmic examination, which include electroretinogram (ERG), optical coherence tomography (OCT), and fundus autofluorescence (FAF), and their DNA samples were screened for RPE65 variants using Sanger sequencing.
resultsAmong the 44 patients studied, 8 (18.2%) harboured disease-causing pathogenic or likely pathogenic biallelic variants in the RPE65 gene. Of these, 47.7% were male and 52.3% female; in all affected individuals, symptom onset preceded the fourth birthday. Four distinct missense variants were identified: three classified as likely pathogenic and one as pathogenic. One variant (p.Phe472Ser) was novel, with no prior reports in the literature or public databases. Affected patients demonstrated visual impairment within the first decade of life. RPE65 variants were mainly associated with nystagmus and markedly reduced rod and cone function on ERG. There was bilateral thinning of outer retinal layers outside the fovea with the disruption of the ellipsoid Zzone (EZ) and retinal pigment epithelium (RPE) layers by OCT, as well as diminished normal fluorescence in fundus autofluorescence testing in patients harbouring disease-causing RPE65 genetic variants.
conclusionRPE65 gene variants account for 18.2% of this selected paediatric IRD cohort and represent an important genetic cause of LCA and ECORD in the Egyptian population. Expanded access to gene therapy trials is critically needed for eligible patients.
Indexed as
Identifiers
42313326What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.