Abstract：
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.
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.
摘要：
■幼年性开角型青光眼被描述为原发性开角型青光眼，发病年龄在40岁之前。这些患者的近视患病率较高。
■我们描述了在EFEMP1基因中具有罕见变异的患者中幼年性开角型青光眼的表型，谁也被检测出患有Stickler综合征（STL）。
■在40个不相关的家庭中进行了全外显子组测序（WES），其中先证者患有幼年性开角型青光眼（JOAG）。
■其中，八个是常染色体显性,而其余的没有任何其他受影响的一级亲属。在8个常染色体显性JAAG家族中，MYOC突变检测3例(37.5%),LTBP2检测1例(12.5%)。一个家庭（12.5％）在受影响的父亲和女儿中均具有罕见的EFEMP1序列变异。女儿还患有高度近视和致病性COL11A1序列变异，导致她同时诊断出STL。
■在患有STL的JOAG患者中，这是EFEMP1和COL11A1序列变体的罕见关联。该研究还重申了JOAG与EFEMP1的联系，应该寻找，特别是在常染色体显性JAAG的家庭中。
■我们描述了在EFEMP1基因中具有罕见变异的患者中幼年性开角型青光眼的表型，谁也被检测出患有Stickler综合征（STL）。
■在40个不相关的家庭中进行了全外显子组测序（WES），其中先证者患有幼年性开角型青光眼（JOAG）。
■其中，八个是常染色体显性,而其余的没有任何其他受影响的一级亲属。在8个常染色体显性JAAG家族中，MYOC突变检测3例(37.5%),LTBP2检测1例(12.5%)。一个家庭（12.5％）在受影响的父亲和女儿中均具有罕见的EFEMP1序列变异。女儿还患有高度近视和致病性COL11A1序列变异，导致她同时诊断出STL。
■在患有STL的JOAG患者中，这是EFEMP1和COL11A1序列变体的罕见关联。该研究还重申了JOAG与EFEMP1的联系，应该寻找，特别是在常染色体显性JAAG的家庭中。
