ArticleDocumenta ophthalmologica. Advances in ophthalmology2024
An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 0 citations in OpenAlex.
- Bilateral Choroidal Neovascular Membranes in a Patient With a C1QTNF5 Mutation Managed With Long-Term Anti-VEGF Therapy and PRN Protocol: A Case Report.Case reports in ophthalmological medicine · 2026Article
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6 authors at 3 institutions in 1 country.
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Abstract
purposeThe purpose of this study was to describe and diagnose the difficulty in a long-term follow-up (eleven years) patient with a very early presentation of late-onset retinal degeneration (L-ORD) and the significance of electrophysiological examinations and follow-up in assessing undiagnosed inherited retinal diseases.
methodsThis is an observational case report of a 56-year-old woman, with scattered multiple yellow-white retinal dots firstly diagnosed as fundus albipunctatus. Ten years after presentation, a deterioration in rod and cone responses in ff-ERG was detected, which allowed us to discard the first diagnostic hypothesis and proceed with a genetic testing.
resultsTen years after presentation, she presented a clear progression of the abnormal photoreceptor response with a cone and rod involvement in ff-ERG, which was not compatible with the previous suspicion of fundus albipunctatus. Six months later, genetic testing results together with the typical progression of atrophic patchy lesions in multimodal imaging allowed a certain diagnosis of L-ORD, caused by an already reported pathogenic variant in the C1QTNF5 gene (c.563C > T; p. Pro188 Leu).
conclusionsWe demonstrate the importance of the ff-ERG examination and the follow-up (or ERG and imaging repetition) in the differential diagnosis of an incipient L-ORD, which can be easily misdiagnosed in the early stages, before the appearance of the characteristic chorioretinal atrophy seen with the progression of this rare disease.
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