- 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...
Expand abstract - Publisher copy:
- 10.1136/bjo.87.11.1317
-
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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
- Copyright date:
- 2003
Journal article
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).
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