Department of Ophthalmology, Shanghai General Hospital, Shanghai JiaoTong University.
Shanghai Key Laboratory of Ocular Fundus Disease.
Medicine (Baltimore). 2021 Jan 22;100(3):e24006. doi: 10.1097/MD.0000000000024006.
Retinitis pigmentosa is a major cause of visual disability and blindness. Photopsia is usually presented in patients with retinal traction caused by posterior vitreous detachment in clinic, which would occur more commonly in those suffer from moderate or high myopia. We describe a patient with leopard-like retinopathy initially complaining of photopsia caused not by myopia but by retinitis pigmentosa.
A 39-year-old woman with a history of moderate myopia presented to us complaining of photopsia for several days.
Fundus examination revealed leopard-like retinopathy with normal optic disc and macula appearance in both eyes. The atrophy of retinal pigment epithelium was found in peripheral retina while no bone spicule was present. Retinal multimodal imaging helped in the correct diagnosis of retinitis pigmentosa (sine pigmento), later confirmed by genetic testing.
At current no specific treatment was applied, but the patient was required for follow-up observation every six months.
Follow-up observation.
This case highlights the potential for retinitis pigmentosa sine pigmento to present with photopsia under cover of myopia and the importance of performing multimodal imaging including fundus autofluorescence for fundus disorders. Careful history review and multimodal imaging with genetic testing would help for the correct diagnosis of retinitis pigmentosa sine pigmento.
色素性视网膜炎是导致视力障碍和失明的主要原因。临床上，由于后玻璃体脱离引起的视网膜牵引，常会出现光幻视，在中高度近视患者中更为常见。我们描述了一位最初因色素性视网膜炎而非近视引起光幻视的豹纹状视网膜病变患者。
一位 39 岁女性，有中度近视史，因数日光幻视就诊。
眼底检查发现双眼豹纹状视网膜，视盘和黄斑外观正常。周边视网膜可见视网膜色素上皮萎缩，但无骨针。视网膜多模态成像有助于正确诊断色素性视网膜炎（无色素型），后经基因检测证实。
目前尚无特定治疗方法，但要求患者每 6 个月随访观察。
随访观察。
本病例强调了色素性视网膜炎无色素型在近视掩盖下出现光幻视的可能性，以及进行包括眼底自发荧光在内的多模态成像检查眼底疾病的重要性。仔细的病史回顾和多模态成像结合基因检测有助于正确诊断色素性视网膜炎无色素型。
