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Article

Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.

Ophthalmic genetics - 1 Jan 2000

Villanueva Adda, Biswas Pooja, Kishaba Kameron, Suk John, Tadimeti Keerti, Raghavendra Pongali B, Nadeau Karine, Lamontagne Bruno, Busque Lambert, Geoffroy Steve, Mongrain Ian, Asselin Géraldine, Provost Sylvie, Dubé Marie-Pierre, Nudleman Eric, Ayyagari Radha

Abstract excerpt

PURPOSE: To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico. METHODS: A complete ophthalmic evaluation including measurement of visual acuities, Goldman kinetic or Humphrey dynamic perimetry, Amsler test, fundus photography, and color vision testing was performed. Family history and blood samples were collected from...

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Identifiers

PMID: 28945494
DOI: 10.1080/13816810.2017.1373830
PMCID: PMC6143363

Genes

RPE65
ABCA4
IMPDH1

Provenance

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