Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Department of Ophthalmology, The Royal Children's Hospital, Melbourne, Victoria, Australia.
Retin Cases Brief Rep. 2021 Jan 1;15(1):89-92. doi: 10.1097/ICB.0000000000000748.
To report the presence of drusen in infancy, in a patient with Type 1 retinopathy of prematurity and a rare congenital sodium diarrhea secondary to a sporadic GUCY2C mutation.
A case report generated by review of clinical course, with imaging of 1 patient and literature review.
A 1.075-kg infant born at gestation age 27 weeks was admitted to our institution with respiratory distress and secretory diarrhea. During screening for retinopathy of prematurity, peripheral drusen-like subretinal deposits were identified. There were no similar findings in either parent or family history of ocular pathologies. Their distribution is atypical for that seen in other causes of early onset drusen such as autosomal dominant drusen or Sorsby fundus dystrophy. Retinopathy of prematurity was identified, which progressed to Type 1, and was treated with bilateral indirect peripheral retinal photocoagulation at gestational age of 40 weeks. Fluorescein angiography was performed and was consistent with peripheral drusen. Optical coherence tomography of the central macula and an awake electroretinogram at 6 months were normal. Serial examinations confirmed no progression in the drusen-like deposits or in retinopathy of prematurity, with clinically appropriate visual development observed during close follow-up.
We identify a unique ocular phenotype of retinal drusen-like deposits in an infant with a rare, sporadic GUCY2C mutation.
报告一例 1 型早产儿视网膜病变和罕见散发性 GUCY2C 突变引起的先天性钠腹泻患者在婴儿期存在 drusen。
通过回顾 1 例患者的临床病程、影像学表现和文献复习，进行病例报告。
一名 1.075 公斤的婴儿，胎龄 27 周，因呼吸窘迫和分泌性腹泻而入住我院。在早产儿视网膜病变筛查中，发现周边类似 drusen 的视网膜下沉积物。在父母或家族眼部疾病史中均未发现类似发现。其分布与常染色体显性 drusen 或 Sorsby 眼底营养不良等其他早期发病 drusen 的分布不同。诊断为早产儿视网膜病变，进展为 1 型，并在胎龄 40 周时接受双侧间接周边视网膜光凝治疗。进行荧光素血管造影，与周边 drusen 一致。6 个月时行中心黄斑光学相干断层扫描和清醒视网膜电图检查均正常。连续检查证实，drusen 样沉积物或早产儿视网膜病变均无进展，在密切随访中观察到临床适当的视觉发育。
我们在一例罕见散发性 GUCY2C 突变患者中发现了具有独特眼部表型的视网膜 drusen 样沉积物。
