Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Department of Ophthalmology, Prince Mohammed Medical City, Riyadh, Saudi Arabia.
Middle East Afr J Ophthalmol. 2022 Nov 23;29(1):59-62. doi: 10.4103/meajo.meajo_98_22. eCollection 2022 Jan-Mar.
The manifestation of intermediate uveitis (IU) in patients with retinitis pigmentosa (RP) is uncommon and poses diagnostic and management challenges. In this case, we describe the clinical features and management outcomes in an RP patient with a novel homozygous splice site mutation in PRPF8. A 21-year-old male presented with unilateral decrease of vision in the right eye for 1 week. Retinal dystrophy features were present in the left eye. After 2 weeks of topical steroid therapy, near-total resolution of IU was achieved and vision improved to 20/30. Signs of (RP) were present bilaterally, with the right eye more affected than the left. Genetic testing indicated a novel homozygous c. 3061-6_3061-3del mutation in the gene. IU in young patients with RP can be effectively treated with a short course of topical steroids, sparing the need for systemic immunosuppressives. After the improvement in IU, the right eye showed more advanced RP changes.
中间葡萄膜炎（IU）在色素性视网膜炎（RP）患者中的表现并不常见，这给诊断和治疗带来了挑战。在本例中，我们描述了一位具有 PRPF8 新型纯合剪接位点突变的 RP 患者的临床特征和治疗结果。一名 21 岁男性因右眼单侧视力下降 1 周就诊。左眼存在视网膜营养不良特征。经过 2 周的局部皮质类固醇治疗，IU 几乎完全缓解，视力提高至 20/30。双侧均存在（RP）的迹象，右眼比左眼更严重。基因检测显示， 基因中存在一个新的纯合 c. 3061-6_3061-3del 突变。年轻 RP 患者的 IU 可以通过短期局部皮质类固醇治疗有效治疗，避免使用全身性免疫抑制剂。IU 改善后，右眼出现了更严重的 RP 改变。
