Takkar Brijesh, Asati Dinesh P, Rupla Richa, Shrivastava Varsha
Ophthalmic Surg Lasers Imaging Retina. 2019 Mar 1;50(3):192-195. doi: 10.3928/23258160-20190301-11.
Foveal hypopalsia (FH) is typically seen in association with diseases like albinism and aniridia, and familial FH (FFH) is very rare. The authors present a case of unique association of FH with dyschromatosis universalis hereditaria (DUH). Family members of this patient had history of nystagmus and dermal pigmentary anomalies, suggesting that this may represent FFH with DUH in X-linked pattern. The authors also discuss the role of pigment anomalies in manifesting as this combination. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:192-195.].
黄斑发育不全（FH）通常与白化病和无虹膜等疾病相关，而家族性黄斑发育不全（FFH）非常罕见。作者报告了1例FH与遗传性泛发性色素异常（DUH）独特关联的病例。该患者的家庭成员有眼球震颤和皮肤色素异常病史，提示这可能代表X连锁型的伴有DUH的FFH。作者还讨论了色素异常在表现为这种组合中的作用。[《眼科手术、激光与视网膜成像》。2019年；50:192 - 195。]
