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Article

Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.

Ophthalmic surgery, lasers & imaging retina - 1 Aug 2021

Richard Alyse J, Huckfeldt Rachel M, Reichel Elias, Liang Michelle C

Abstract excerpt

The authors describe identical twin sisters with similar symptoms, fundus findings, and ophthalmic testing consistent with retinitis punctata albescens (RPA). The pathognomonic white retinal flecks, extensive midperipheral retinal pigment epithelium atrophy, and pigmentary changes demonstrate overlapping phenotypic properties of RPA and other inherited retinal degenerative diseases. Genetic testing confirmed two...

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PMID: 34410188
DOI: 10.3928/23258160-20210727-08

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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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