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

Abstract:

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, fundus photography, autofluorescence imaging, and detailed psychophysical testing. RESULTS: All five examined patients had a history of nystagmus from infancy, photophobia, defective colour vision, an...

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Publisher copy:
10.1136/bjo.87.11.1317

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
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Journal:
The British journal of ophthalmology
Volume:
87
Issue:
11
Pages:
1317-1320
Publication date:
2003-11-05
DOI:
EISSN:
1468-2079
ISSN:
0007-1161
URN:
uuid:07cba5d0-69c8-44ae-aaa5-bf197f1f5765
Source identifiers:
500014
Local pid:
pubs:500014

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