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Abstract：
BACKGROUND: Oculocutaneous albinism (OCA) is a group of autosomal recessive hereditary disorders that affect melanin biosynthesis, resulting in abnormalities in hair, skin, and eyes. Retinopathy of prematurity (ROP) is a proliferative retinopathy mainly observed in premature infants with low birth weight and early gestational age, but it can also affect full-term infants or children with normal weight, particularly in developing countries. The coexistence of ROP and OCA is rare. There is limited documentation regarding treatment approaches, with few studies reporting positive outcomes with laser treatment due to the absence of melanin pigment. This study discusses the treatment challenges in a female infant diagnosed with ROP and OCA, and underscores the importance of genetic analysis in guiding therapeutic decisions for this rare comorbid condition.
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.
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.
摘要：
背景：眼皮肤白化病（OCA）是一组影响黑色素生物合成的常染色体隐性遗传性疾病，导致头发异常，皮肤,和眼睛。早产儿视网膜病变（ROP）是一种增殖性视网膜病变，主要见于低出生体重和胎龄较早的早产儿。但它也会影响足月婴儿或体重正常的儿童，特别是在发展中国家。ROP和OCA的共存是罕见的。关于治疗方法的文件有限，由于缺乏黑色素，很少有研究报告激光治疗的积极结果。这项研究讨论了诊断为ROP和OCA的女婴的治疗挑战，并强调了遗传分析在指导这种罕见的合并症的治疗决策中的重要性。
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.
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.
