Article
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
Molecular vision - 1 Jan 2015
Naeem Muhammad Asif, Gottsch Alexander D H, Ullah Inayat, Khan Shaheen N, Husnain Tayyab, Butt Nadeem H, Qazi Zaheeruddin A, Akram Javed, Riazuddin Sheikh, Ayyagari Radha, Hejtmancik J Fielding, Riazuddin S Amer
Abstract excerpt
PURPOSE: This study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families. METHODS: Two consanguineous families with multiple individuals manifesting symptoms of stationary night blindness were recruited. Affected individuals underwent a detailed ophthalmological examination, including fundus...
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