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. 1989 Aug;26(8):504–510. doi: 10.1136/jmg.26.8.504

Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.

I K Jalili 1
PMCID: PMC1015672  PMID: 2769722

Abstract

Two female cousins were found to be affected with severe retinal dystrophy characterised by visual impairment from birth and profound photophobia in the absence of night blindness. Minimal fundus changes with a small foveal atrophy in the older cousin and slight macular pigment epithelial changes suggestive of early bull's eye appearance in the younger were detected, indicative of a cone-rod type of congenital amaurosis. This was associated with trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair (including hypertrophied circumareolar hair on the breasts of the older cousin). The mode of inheritance appears to be autosomal recessive.

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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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