眼科
医学
视网膜脱离
光学相干层析成像
视网膜
视网膜色素上皮
眼底(子宫)
视网膜
视网膜劈裂
生物
神经科学
作者
Avrey Thau,Mai Tsukikawa,Nutsuchar Wangtiraumnuay,Jenina E. Capasso,Elizabeth Affel,Waleed Abed Alnabi,Murtaza K. Adam,Sulaiman M. Alsulaiman,Marc J. Spirn,Alex V. Levin
出处
期刊:Ophthalmic surgery, lasers & imaging retina
日期:2019-08-01
卷期号:50 (8)
被引量:6
标识
DOI:10.3928/23258160-20190806-13
摘要
Knobloch syndrome is a genetic disorder defined by occipital defect, high myopia, and vitreoretinal degeneration. The authors studied retinal changes in patients with Knobloch syndrome using optical coherence tomography (OCT).The authors report patients with Knobloch syndrome who received OCT testing during their care from 2011 to 2016. Diagnosis was based on high myopia, characteristic fundus, and occipital scalp or skull abnormalities with/without featureless irides and/or ectopia lentis. When available, diagnosis was confirmed by the detection of COL18A1 mutations.The authors studied eight eyes from five patients. Two eyes were excluded due to chronic retinal detachment. OCT findings included epiretinal membrane, peripapillary vitreoretinal traction with retinoschisis, absent or rudimentary foveal pits, mean macular thickness of 113.4 μm, poor lamination, retinal pigment epithelium (RPE) atrophy, photoreceptor depletion, and mean choroidal thickness of 168.5 μm with enlarged choroidal vessels.OCT findings in Knobloch syndrome include abnormal vitreoretinal traction, poor foveal differentiation, poor retinal lamination, retinal thinning, RPE attenuation, myopic choroidal thinning, and pachychoroid. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e203-e210.].
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