Abstract：
UNASSIGNED: Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis.
UNASSIGNED: We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results.
UNASSIGNED: Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome (n = 5), amniotic band syndrome (n = 1), FREM1-related disease (n = 1), Goldenhar versus Schimmelpenning syndrome (n = 1), MOTA syndrome (n = 1), and CELSR2-related disease (n = 1).
UNASSIGNED: This is the first report of a possible association between cryptophthalmos and biallelic CELSR2 variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.
UNASSIGNED: We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results.
UNASSIGNED: Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome (n = 5), amniotic band syndrome (n = 1), FREM1-related disease (n = 1), Goldenhar versus Schimmelpenning syndrome (n = 1), MOTA syndrome (n = 1), and CELSR2-related disease (n = 1).
UNASSIGNED: This is the first report of a possible association between cryptophthalmos and biallelic CELSR2 variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.
摘要：
■隐泪虫是一种罕见的先天性疾病，由眼睑发育异常引起，其中眼睑褶皱不发育或无法分离。隐丘脑可以是单侧或双侧的，可以单独发生或作为潜在综合征的一部分发生。我们的目标是确定与隐丘脑相关的遗传综合征，以促进遗传诊断。
■我们在2000年至2020年期间在一个中心对所有诊断为隐脑的患者进行了回顾性医疗记录审查。分析包括病史，临床检查结果，和基因检测结果。
■包括13名患者，10名（77%）男性，平均年龄2.4岁。八个（61％）患有双侧隐发虫，和4（31％）有完整的隐thalmos。相关的眼部异常包括角膜混浊（13/13，100%），上眼睑瘤（12/13，92%），和小眼/临床无眼（3/13，23%）。所有完全隐管病例均有双侧疾病。在10/13（77％）病例中确定了潜在的临床或分子诊断，包括弗雷泽综合征（n=5），羊膜带综合征（n=1），FREM1相关疾病（n=1），Goldenhar与Schimmelpenning综合征（n=1），MOTA综合征（n=1），和CELSR2相关疾病（n=1）。
■这是关于隐藻和双等位基因CELSR2变体之间可能关联的第一份报告。患有隐泪虫的儿童，尤其是那些眼外受累的人，应参考全面的遗传评估。
■我们在2000年至2020年期间在一个中心对所有诊断为隐脑的患者进行了回顾性医疗记录审查。分析包括病史，临床检查结果，和基因检测结果。
■包括13名患者，10名（77%）男性，平均年龄2.4岁。八个（61％）患有双侧隐发虫，和4（31％）有完整的隐thalmos。相关的眼部异常包括角膜混浊（13/13，100%），上眼睑瘤（12/13，92%），和小眼/临床无眼（3/13，23%）。所有完全隐管病例均有双侧疾病。在10/13（77％）病例中确定了潜在的临床或分子诊断，包括弗雷泽综合征（n=5），羊膜带综合征（n=1），FREM1相关疾病（n=1），Goldenhar与Schimmelpenning综合征（n=1），MOTA综合征（n=1），和CELSR2相关疾病（n=1）。
■这是关于隐藻和双等位基因CELSR2变体之间可能关联的第一份报告。患有隐泪虫的儿童，尤其是那些眼外受累的人，应参考全面的遗传评估。
