Abstract：
Abstract Background: A microdeletion in the chromosome 22q11.2 (DiGeorge or velocardiofacial syndrome) is the most common human deletion syndrome. Patients with 22q11.2 deletion may have a wide range of ocular findings but severe ocular involvement is uncommon. Here, we describe a 2-year-old boy who had growth retardation, developmental delay, right renal agenesis, ventricular septal defect and severe bilateral ocular anomalies.
METHODS: The systemic and ocular findings and cranial magnetic resonance imaging study results were reviewed. Fluorescence in situ hybridization analysis was performed on his peripheral blood.
RESULTS: The patient presented with the oculodigital sign. On examination, he had severe right microphthalmia with no light perception and his left eye could not fix and follow. The left eye had anterior segment dysgenesis, mild sclerocornea, corneal staphyloma and congenital aphakia. Systemic findings included growth deficiency, microcephaly, micrognathia, ventricular septal defect, atrial septal defect and right renal agenesis. Fluorescence in situ hybridization analysis of this patient was significant for a heterozygous deletion covering DiGeorge critical region 2 and spanning a 250 kb region in the 22q11.2 locus.
CONCLUSIONS: The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, anterior segment dysgenesis and congenital aphakia. Corneal staphyloma might have resulted from the oculodigital phenomenon or increased intraocular pressure.
METHODS: The systemic and ocular findings and cranial magnetic resonance imaging study results were reviewed. Fluorescence in situ hybridization analysis was performed on his peripheral blood.
RESULTS: The patient presented with the oculodigital sign. On examination, he had severe right microphthalmia with no light perception and his left eye could not fix and follow. The left eye had anterior segment dysgenesis, mild sclerocornea, corneal staphyloma and congenital aphakia. Systemic findings included growth deficiency, microcephaly, micrognathia, ventricular septal defect, atrial septal defect and right renal agenesis. Fluorescence in situ hybridization analysis of this patient was significant for a heterozygous deletion covering DiGeorge critical region 2 and spanning a 250 kb region in the 22q11.2 locus.
CONCLUSIONS: The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, anterior segment dysgenesis and congenital aphakia. Corneal staphyloma might have resulted from the oculodigital phenomenon or increased intraocular pressure.
摘要：
摘要背景：染色体22q11.2中的微缺失（DiGeorge或心面综合征）是人类最常见的缺失综合征。22q11.2缺失的患者可能有广泛的眼部表现，但严重的眼部受累并不常见。这里,我们描述了一个有发育迟缓的2岁男孩,发育迟缓,右肾发育不全,室间隔缺损和严重的双侧眼部异常。
方法：回顾了全身和眼部表现以及头颅磁共振成像研究结果。对他的外周血进行荧光原位杂交分析。
结果：患者出现眼指征。在检查中，他患有严重的右小眼病，没有光线感知，他的左眼无法修复和跟随。左眼有眼前节发育不全,轻度硬化角膜，角膜葡萄肿和先天性无晶状体眼。系统性发现包括生长不足，小头畸形,小颌畸形,室间隔缺损,房间隔缺损和右肾发育不全。该患者的荧光原位杂交分析对于覆盖DiGeorge临界区2并跨越22q11.2基因座中250kb区域的杂合缺失具有重要意义。
结论：22q11.2缺失综合征可能与包括小眼症在内的严重双侧眼部畸形有关，巩膜角膜,角膜葡萄肿,眼前节发育不全和先天性无晶状体眼。角膜葡萄肿可能是由于眼指现象或眼压升高所致。
方法：回顾了全身和眼部表现以及头颅磁共振成像研究结果。对他的外周血进行荧光原位杂交分析。
结果：患者出现眼指征。在检查中，他患有严重的右小眼病，没有光线感知，他的左眼无法修复和跟随。左眼有眼前节发育不全,轻度硬化角膜，角膜葡萄肿和先天性无晶状体眼。系统性发现包括生长不足，小头畸形,小颌畸形,室间隔缺损,房间隔缺损和右肾发育不全。该患者的荧光原位杂交分析对于覆盖DiGeorge临界区2并跨越22q11.2基因座中250kb区域的杂合缺失具有重要意义。
结论：22q11.2缺失综合征可能与包括小眼症在内的严重双侧眼部畸形有关，巩膜角膜,角膜葡萄肿,眼前节发育不全和先天性无晶状体眼。角膜葡萄肿可能是由于眼指现象或眼压升高所致。
