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ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.

Retina (Philadelphia, Pa.) - 1 Jun 2021

De Zaeytijd Julie, Van Cauwenbergh Caroline, De Bruyne Marieke, Van Heetvelde Mattias, De Baere Elfride, Coppieters Frauke, Leroy Bart P

Abstract excerpt

PURPOSE: To describe an isolated maculopathy and an intermediate rod-cone dystrophy phenotype as the milder end of the RDH12-related retinal dystrophy spectrum. METHODS: Seven patients (17-34 years of age) underwent an extensive ophthalmic workup including psychophysical and electrophysiological testing and multimodal imaging. RESULTS: Three patients have isolated macular disease. Best-corrected visual acuity...

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PMID: 34001834
DOI: 10.1097/IAE.0000000000003028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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