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Hypertrichosis

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521. Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. (PubMed)

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

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1989 Journal of Medical Genetics

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