SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP.
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP.
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DOI：
10.1097/icb.0000000000000625
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发表时间：
2020-01-01
影响因子：
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通讯作者：
Leys, Anita
中科院分区：
文献类型：
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作者：
Sels, Lise;Dirven, Werner;Leys, Anita
目得：描述一个严重的肾缺损综合征病例在长期随访中的眼部特征。方法：45年的观察性病例报告。3个月大时麻醉下检查，重复眼科检查（年龄7、14、25、45岁）、荧光素和吲哚菁绿色血管造影、视网膜电图、眼部超声、光学相干断层扫描、计算机断层扫描轨道和脑磁共振成像。表现为严重的双眼后部缺损，左眼视神经发育不全和球后囊肿，肾脏异常和智力低下。随着时间的推移，右眼出现进行性轴性近视，左眼出现带状角膜病变，以及进行性双侧后透镜混浊。唯一功能性右眼的视力和视野仅轻微下降。该患者的母亲有轻度视盘发育不全、进行性透镜混浊和迟发性肾病。两者都有一个确认的突变在外显子2的PAX2 gene.CONCLUSION：这第一次发表的长期随访肾缺损综合征显示进行性后透镜混浊，轴性近视，带状角膜病变，随着时间的推移，只有一个小的下降，视功能。
PURPOSE: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up.METHODS: Observational case report over a period of 45 years. Examination under anesthesia at the age of 3 months, repeated ophthalmologic examination (age 7, 14, 25, 45 years), fluorescein and indocyanine green angiography, electroretinography, ocular ultrasound, optical coherence tomography, computed tomography scan orbits, and magnetic resonance imaging of the brain.RESULTS: Presentation with severe bilateral posterior eye defects, optic nerve aplasia and a retrobulbar cyst in the left eye, renal abnormalities, and mental retardation. Over time, a progressive axial myopia in the right eye, band keratopathy in the left eye, and progressive bilateral posterior lens opacities were noted. There was only a minor decrease in visual acuity and visual field of the only functional right eye. The mother of this patient had a mild optic disk hypoplasia, progressive lens opacities, and late-onset renal disease. Both had a confirmed mutation in exon 2 of the PAX2 gene.CONCLUSION: This first published long-term follow-up of renal coloboma syndrome shows progressive posterior lens opacities, axial myopia, and band keratopathy with only a small decline in visual function over time.