Alarfaj Ghufran, Alhashim Hassan, Alotaibi Horia M, Almubarak Mahdi, Alhamad Jinan
Ophthalmology, Dhahran Eye Specialist Hospital, Dhahran, SAU.
Ophthalmology, Imam Abdulrahman Bin Faisal University, Dammam, SAU.
Cureus. 2024 Feb 9;16(2):e53891. doi: 10.7759/cureus.53891. eCollection 2024 Feb.
Foveal hypoplasia is a retinal disorder characterized by the anatomic absence of the foveal pit. It might be isolated or associated with poor vision and several conditions such as albinism, aniridia, microphthalmos, congenital nystagmus, or other diseases. Genetic and non-genetic causes can play a role in foveal pit development. However, the exact mechanism that causes foveal pit absence has not been determined. This study reports a five-year-old boy who presented to the eye clinic with bilateral poor vision since birth. Optical coherence tomography (OCT) was performed and confirmed the absence of the foveal pit in both eyes. Diagnosis of foveal hypoplasia was made. The parents reported a positive family history of similar conditions, specifically, a paternal grandfather, a male paternal cousin, and a brother. To the best of our knowledge, this is the first reported case of foveal hypoplasia, with a positive family history in the male gender specifically. Thus, inheritance is presumed to be X-linked recessive. We acknowledge that further investigation by genetic testing would offer further insight into this case.
黄斑发育不全是一种视网膜疾病，其特征是黄斑中心凹在解剖学上缺失。它可能是孤立存在的，也可能与视力不佳以及白化病、无虹膜、小眼症、先天性眼球震颤或其他疾病等多种情况相关。遗传和非遗传因素都可能在黄斑中心凹的发育中起作用。然而，导致黄斑中心凹缺失的确切机制尚未确定。本研究报告了一名5岁男孩，自出生以来双眼视力不佳，前来眼科门诊就诊。进行了光学相干断层扫描（OCT），证实双眼均无黄斑中心凹。诊断为黄斑发育不全。父母报告有类似情况的家族史阳性，具体为祖父、一位堂兄和一个兄弟。据我们所知，这是首次报道的具有阳性家族史的男性黄斑发育不全病例。因此，推测其遗传方式为X连锁隐性遗传。我们承认，通过基因检测进行进一步调查将为该病例提供更深入的见解。
