Jalili I K
Department of Clinical Ophthalmology, Moorfields Eye Hospital, London.
J Med Genet. 1989 Aug;26(8):504-10. doi: 10.1136/jmg.26.8.504.
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.
两名女性堂姐妹被发现患有严重的视网膜营养不良，其特征为自出生起就有视力障碍，且在无夜盲的情况下有严重的畏光症状。在年长的堂姐妹中发现眼底变化极小，仅有小的黄斑中心凹萎缩，而年幼的堂姐妹有轻微的黄斑色素上皮变化，提示早期靶心样外观，这表明是一种锥杆型先天性黑矇。这与毛发粗长、眉毛浓密且连眉以及面部和身体毛发过多（包括年长堂姐妹乳房乳晕周围毛发增生）有关。遗传方式似乎为常染色体隐性遗传。
