Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Department of Biophysics, All India Institute of Medical Sciences, New Delhi, India.
Ophthalmic Genet. 2023 Jun;44(3):281-285. doi: 10.1080/13816810.2022.2109682. Epub 2022 Aug 10.
Juvenile onset open-angle glaucoma is described as a primary open-angle glaucoma, with an age of onset before 40 years. These patients have a higher prevalence of myopia.
We describe the phenotype of juvenile onset open-angle glaucoma in a patient with a rare variant in EFEMP1 gene, who was also detected to have Stickler syndrome(STL).
Whole exome sequencing (WES) was undertaken in 40 unrelated families where the proband had juvenile onset open-angle glaucoma (JOAG).
Out of these, eight were autosomal dominant, while the rest did not have any other affected first-degree relative. Out of the 8 autosomal dominant JOAG families, MYOC mutations were detected in 3(37.5%) and LTBP2 in 1(12.5%). One family (12.5%) had a rare EFEMP1 sequence variant in both affected father and daughter. The daughter also had high myopia and a pathogenic COL11A1 sequence variant that led to a coincidental diagnosis of STL in her.
This is a rare association of EFEMP1 and COL11A1 sequence variants in a JOAG patient with STL. The study also reiterates the association of JOAG with EFEMP1, which should be looked for, especially in families with autosomal dominant JOAG.
青少年型开角型青光眼被描述为一种原发性开角型青光眼，发病年龄在 40 岁之前。这些患者近视的患病率更高。
我们描述了一名青少年型开角型青光眼患者的表型，该患者在 EFEMP1 基因中存在罕见变异，同时还被检测出患有斯特勒综合征（STL）。
对 40 个无血缘关系的先证者为青少年型开角型青光眼（JOAG）的家系进行了全外显子组测序（WES）。
其中 8 个为常染色体显性遗传，其余家系均无其他一级亲属受累。在 8 个常染色体显性遗传 JOAG 家系中，3 个（37.5%）检测到 MYOC 突变，1 个（12.5%）检测到 LTBP2 突变。一个家系（12.5%）中，受累的父亲和女儿均携带 EFEMP1 罕见序列变异。女儿还患有高度近视和 COL11A1 序列变异，导致她同时被诊断为 STL。
这是一例 EFEMP1 和 COL11A1 序列变异与青少年型开角型青光眼合并 STL 的罕见关联。该研究还再次证实了 JOAG 与 EFEMP1 的关联，尤其是在常染色体显性遗传的 JOAG 家系中，应寻找 EFEMP1 变异。
