X linked progressive cone dystrophy with specific attention to carrier detection.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 1583654.
- Also identified by PMC identifier 1015946.
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Abstract
We investigated 111 members of a five generation family with X linked cone dystrophy. The patients showed the characteristic picture of cone dystrophy. Routine ophthalmological examination of the carrier women showed no abnormalities. However, with detailed colour vision testing we were able to detect 87% of all obligate carriers.
Medical subject headings
- Retinitis Pigmentosa
- X Chromosome