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Article

New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Mar 2008

Small Kent W, Silva-Garcia Rosamaria, Udar Nitin, Nguyen Eddy V, Heckenlively John R

Abstract excerpt

OBJECTIVES: To clinically characterize the retinal abnormalities and identify the mutation causing an autosomal dominant cone degeneration in an African American family. METHODS: Clinical characterization of family members using fundus photography, fluorescein angiography, and electrophysiological testing. Standard molecular genetic methods were used, including segregation analysis and DNA sequencing of candidate...

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PMID: 18332321
DOI: 10.1001/archopht.126.3.397

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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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