Bhakhri Raman, Ridder William H
*OD, FAAO †OD, MS, PhD, FAAO Marshall B. Ketchum University, Southern California College of Optometry, Fullerton, California (both authors).
Optom Vis Sci. 2016 Sep;93(9):1173-80. doi: 10.1097/OPX.0000000000000906.
To report an unusual case of a gyrate atrophy-like presentation with retinal crystal deposition in a patient with normal plasma ornithine levels.
A 50-year-old Hispanic female patient presented with complaints of blurred vision and nyctalopia. Examination revealed bilateral multiple round islands of peripheral chorioretinal degeneration in addition to small crystal-like deposits in the posterior pole. Spectral domain optical coherence tomography confirmed the crystalline deposits to be above the retinal pigment epithelium. Electrophysiology revealed reduced photopic responses with no recordable scotopic response. Testing for elevated plasma ornithine, which is typical in gyrate atrophy patients, was performed; however, the patient's levels were normal.
Diagnosis of conditions that cause nyctalopia can be challenging because they are rare and often similar in appearance and presenting symptoms. Retinal crystal deposition and normal plasma ornithine illustrate the phenotypical variation that can be seen in a gyrate atrophy-like phenotype.
报告一例血浆鸟氨酸水平正常但出现视网膜晶体沉积的回旋状萎缩样表现的罕见病例。
一名50岁的西班牙裔女性患者主诉视力模糊和夜盲。检查发现双侧周边脉络膜视网膜变性有多个圆形病灶，此外后极部还有小的晶体样沉积物。频域光学相干断层扫描证实晶体沉积物位于视网膜色素上皮之上。电生理学检查显示明视觉反应降低，暗视觉反应无法记录。对典型的回旋状萎缩患者进行了血浆鸟氨酸水平升高检测；然而，该患者的水平正常。
导致夜盲的疾病诊断可能具有挑战性，因为它们罕见且外观和症状往往相似。视网膜晶体沉积和正常血浆鸟氨酸说明了在回旋状萎缩样表型中可见的表型变异。
