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Article

The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.

Retina (Philadelphia, Pa.) - 1 Sept 2012

Vincent Ajoy, Munier Francis L, Vandenhoven Cynthia C, Wright Tom, Westall Carol A, Héon Elise

Abstract excerpt

PURPOSE: To describe the clinical, spectral-domain optical coherence tomography and electrophysiological features of C1QTNF5-associated late-onset retinal degeneration in a molecularly confirmed pedigree. METHODS: Five members of a family participated, and affected individuals (n = 4) underwent detailed ophthalmologic evaluation including fundus autofluorescence and spectral-domain optical coherence tomography...

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Identifiers

PMID: 22277927
DOI: 10.1097/IAE.0b013e318240a574

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