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Article

Macula-predominant retinopathy associated with biallelic variants in RDH12.

Ophthalmic genetics - 1 Dec 2020

Ba-Abbad Rola, Arno Gavin, Robson Anthony G, Bouras Konstantinos, Georgiou Michalis, Wright Genevieve, Webster Andrew R, Michaelides Michel

Abstract excerpt

PURPOSE: To describe the clinical, electrophysiological, and molecular features of an unusual macula-predominant retinopathy in two unrelated probands with biallelic variants in RDH12. METHODS: Retrospective case series. RESULTS: 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....

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PMID: 32790509
DOI: 10.1080/13816810.2020.1802763

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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