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A NEW MACULAR DYSTROPHY SECONDARY TO A NOVEL MUTATION IN THE PROMININ 1 (PROM1) GENE.

Retinal cases & brief reports - 1 Jan 2000

Randhawa Sandeep, Sharma Mithlesh

Abstract excerpt

PURPOSE: To report a case of a new macular dystrophy caused by a novel mutation in the PROM1 gene. METHODS: History and clinical examination, fluorescein angiography, optical coherence tomography, autofluorescence, electrophysiology, and genetics. RESULTS: We report a case of a 51-year-old man with progressive central visual loss in both his eyes. On fundus examination and imaging, there were asymmetric atrophic...

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Identifiers

PMID: 27571428
DOI: 10.1097/ICB.0000000000000405

Genes

PROM1

Provenance

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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A NEW MACULAR DYSTROPHY SECONDARY TO A NOVEL MUTATION IN THE PROMININ 1 (PROM1) GENE.PMID 27571428Read ↗

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