Ishaq Mazhar, Mukhtar Ahsan, Khan Saim
J Ayub Med Coll Abbottabad. 2015 Apr-Jun;27(2):470-2.
Macular coloboma is a rare entity and its concomitance with Usher syndrome is described here. A 14 years male child was studied in detail along with other family members. He underwent two complete ophthalmologic examinations (4-years follow-up), including visual assessment, orthoptic evaluation, colour vision test, visual fields, corneal topography, Optical coherence tomography, fluorescein angiography, and electroretinography. Detailed ophthalmic examination was also conducted on other asymptomatic members of the same family. Patient had sensorineural deafness, poor visual acuity, and progressive visual field impairment in both eyes, bilaterally presenting macular coloboma and atypical retinitis pigmentosa pattern. The other investigated relatives did not show any specific and/or significant ocular disorder. This concurrence represents no genetic pattern and is observed in sporadic cases.
黄斑缺损是一种罕见的病症，本文描述了其与Usher综合征的并发情况。对一名14岁男童及其其他家庭成员进行了详细研究。他接受了两次全面的眼科检查（随访4年），包括视力评估、斜视评估、色觉测试、视野检查、角膜地形图检查、光学相干断层扫描、荧光素血管造影和视网膜电图检查。还对同一家族的其他无症状成员进行了详细的眼科检查。患者患有感音神经性耳聋、视力低下，双眼视野进行性损害，双眼均有黄斑缺损和非典型视网膜色素变性模式。其他接受调查的亲属未表现出任何特定和/或明显的眼部疾病。这种并发情况不呈现遗传模式，并在散发病例中观察到。
