| Autor: |
Rola, Ba-Abbad, Gavin, Arno, Anthony G, Robson, Konstantinos, Bouras, Michalis, Georgiou, Genevieve, Wright, Andrew R, Webster, Michel, Michaelides |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Ophthalmic genetics. 41(6) |
| ISSN: |
1744-5094 |
| Popis: |
To describe the clinical, electrophysiological, and molecular features of an unusual macula-predominant retinopathy in two unrelated probands with biallelic variants inRetrospective case series.A 29-year-old female presented with visual loss since the age of 14 years. Retinal examination revealed symmetric outer retinal atrophy in the posterior pole with peripapillary sparing. Fundus autofluorescence (AF) showed patchy loss of AF in the posterior pole, with hyper-autofluorescent borders. Optical coherence tomography (OCT) showed loss of the macular outer retinal layers. Pattern electroretinography (PERG) showed macular dysfunction and full-field ERG indicated mild loss of photoreceptor function. Next-generation sequencing (NGS) identified two variants inDisease-causing variants in |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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