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NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.

Retinal cases & brief reports - 1 May 2023

Tauscher Robert G, Rahmani Safa, Szymaniak Brittany M, Jampol Lee M, Mirza Rukhsana G

Abstract excerpt

PURPOSE: To present the case of a family with a novel PRPH2/RDS mutation. METHODS: A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation. RESULTS: A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, whereas their father had a severe...

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PMID: 34127626
DOI: 10.1097/ICB.0000000000001175

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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