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. 1994 Feb;78(2):103–108. doi: 10.1136/bjo.78.2.103

X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis.

F M Meire 1, A A Bergen 1, A De Rouck 1, M Leys 1, J W Delleman 1
PMCID: PMC504710  PMID: 8123616

Abstract

Six affected males, three female carriers, and two possible carriers were evaluated from a three generation pedigree with X linked progressive cone dystrophy. The affected males presented with progressive decrease of visual acuity, impairment of colour vision, and deterioration of electroretinogram, which ranged from absent response to red light in all young patients to abnormal cone-rod responses in the elderly ones. In most affected males dark adaptation curves were monophasic and the electro-oculogram values were reduced. While some obligate carriers showed functional anomalies, they all had reduced electroretinogram response to red light. The a1/aT ratio for 1 joule white light was an appropriate indicator for carrier state. The family was studied with seven DNA markers from the proximal part of the short arm of the human X chromosome. So far, significant linkage has been found between three DNA markers and COD1, which assigns the progressive cone dystrophy gene (COD1) in this family to Xp21-p11.1. Differential diagnosis with congenital cone dystrophies is discussed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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