Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

AIM: To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2. METHODS: Five of the six affected individuals underwent an ophthalmological examination, electrodiagnostic testing, fun...

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Bibliographic Details
Main Authors: Michaelides, M, Aligianis, I, Holder, G, Simunovic, M, Mollon, J, Maher, E, Hunt, D, Moore, A
Format: Journal article
Language:English
Published: 2003

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