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Article

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 1999

Downes S M, Fitzke F W, Holder G E, Payne A M, Bessant D A, Bhattacharya S S, Bird A C

Abstract excerpt

OBJECTIVE: To report the phenotype associated with the codon 172 RDS (gene for retinal degeneration slow) mutation in 11 separate families with an arginine-to-tryptophan substitution with common ancestry, and 1 family with an arginine-to-glutamine transition. PATIENTS: Screening for RDS gene mutations was performed in 400 subjects with autosomal dominant retinal degeneration. Twelve families were identified with...

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Identifiers

PMID: 10532447
DOI: 10.1001/archopht.117.10.1373

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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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