Al-Ghadeer Huda, Mohamed Jawahir Y, Khan Arif O
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Middle East Afr J Ophthalmol. 2011 Jan;18(1):61-4. doi: 10.4103/0974-9233.75890.
Schnyder corneal dystrophy is a rare dominant disorder mostly reported in Western and occasionally Asian populations. This report documents the condition in an affected family from the historically isolated Arabian Peninsula. A child and her mother had central crystalline keratopathy consistent with Schnyder corneal dystrophy. Diagnostic UB1AD1 testing revealed a known point mutation (c.361C>T, p.L121F) in both individuals. Available asymptomatic family members had normal ophthalmic examinations and did not have the mutation. Blood lipid profiles for the two patients revealed mildly elevated total cholesterol and low-density lipoproteins. This report documents Schnyder corneal dystrophy on the Arabian Peninsula and further confirms its relationship with heterozygous UB1AD1 missense mutation.
施奈德角膜营养不良是一种罕见的显性疾病，主要在西方人群中报道，偶尔也见于亚洲人群。本报告记录了一个来自历史上与世隔绝的阿拉伯半岛的患病家庭的情况。一名儿童及其母亲患有与施奈德角膜营养不良相符的中央晶状体性角膜病变。诊断性UB1AD1检测显示两人均存在已知的点突变（c.361C>T，p.L121F）。现有的无症状家庭成员眼科检查正常，且没有该突变。两名患者的血脂谱显示总胆固醇和低密度脂蛋白轻度升高。本报告记录了阿拉伯半岛的施奈德角膜营养不良情况，并进一步证实了其与杂合子UB1AD1错义突变的关系。
