Keshav B R, Mohammed Mahmood J, Mahmood Nasir
Department of Ophthalmology, Sur Hospital, Oman.
Sultan Qaboos Univ Med J. 2010 Apr;10(1):111-3. Epub 2010 Apr 17.
Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported. We present cases of three siblings of a family with identical presentation suggesting that this association may be more than just a coincidence. This association is worth noting, as this could be one of the causes of ocular morbidity and poor vision in oculocutaneous albinism.
眼皮肤白化病和前中胚层发育异常是众所周知的遗传性疾病,但它们同时出现的情况却鲜有报道。我们报告了一个家族中三名兄弟姐妹的病例,他们表现相同,提示这种关联可能并非巧合。这种关联值得关注,因为这可能是眼皮肤白化病患者眼部发病和视力不佳的原因之一。