METHODS: The study presents a case of ROP occurring concurrently with OCA. Genetic testing revealed two variants, c.727C > T (p.R243C) and c.1832 T > C (p.L611P), in the OCA2 gene, inherited from the patient\'s mother and father, respectively. The identified mutations were consistent with a diagnosis of OCA2, classified as a subtype of OCA. The patient initially received intravitreal anti-vascular endothelial growth factor (anti-VEGF) injection, followed by laser photocoagulation therapy for a recurrent event. A favorable outcome was observed during the 2-month follow-up period.
CONCLUSIONS: The co-occurrence of ROP and OCA is a rare phenomenon, and this is the first recorded case in the Chinese population. The current case supports the use of laser as the primary treatment modality for ROP in OCA2 patients with partial pigmentation impairment. Furthermore, genetic analysis can aid in predicting the effectiveness of laser photocoagulation in this patient population.
方法:本研究报告1例ROP与OCA同时发生。基因检测显示两种变异,c.727C>T(p。R243C)和c.1832T>C(p。L611P),在OCA2基因中,从病人的母亲和父亲那里继承下来,分别。鉴定的突变与OCA2的诊断一致,被分类为OCA的亚型。患者最初接受玻璃体内注射抗血管内皮生长因子(抗VEGF),然后是激光光凝治疗复发事件.在2个月的随访期间观察到良好的结果。
结论:ROP和OCA的同时出现是一种罕见的现象,这是中国人口中记录的第一例。当前病例支持使用激光作为部分色素沉着受损的OCA2患者ROP的主要治疗方式。此外,遗传分析可以帮助预测该患者人群中激光光凝的有效性.