Welinder Lotte G, Robitaille Johane M, Rupps Rosemarie, Boerkoel Cornelius F, Lyons Christopher J
a Department of Ophthalmology , University of British Columbia and British Columbia Children's Hospital , Vancouver , British Columbia , Canada .
b Department of Ophthalmology , Aalborg University Hospital , Aalborg , Denmark .
Ophthalmic Genet. 2015;36(3):276-80. doi: 10.3109/13816810.2015.1016240.
The birth of a bilaterally blind child is catastrophic for families and a challenging diagnostic and management problem for ophthalmologists. Early identification of the underlying cause and its genetic basis helps initiate possible treatment, delineate prognosis, and identify risks for future pregnancies. In some cases, an early diagnosis can also influence the treatment of other family members. We report two sisters with bilateral retinal detachment and retro-lental masses from birth with no detectable NDP or FZD4 mutations. They were born to parents without detectable retinal anomalies. At 1 year of age, the elder sister had low impact bone fractures, and further evaluation identified severe osteopenia and multiple spinal compression fractures. Molecular testing identified biallelic lipoprotein receptor-related protein 5 (LRP5) mutations (NM_002335.3:c. [889dupA]; [2827 + 1G > A]) confirming a diagnosis of osteoporosis-pseudoglioma (OPPG) syndrome. After this diagnosis, the father and mother were found to have low bone mass and the father started on therapy. We conclude that early detection of LRP5 mutations is important for initiation of treatment of reduced bone density in the patients and their carrier relatives.
双侧失明儿童的出生对家庭来说是灾难性的，对眼科医生而言也是一个具有挑战性的诊断和管理问题。尽早确定潜在病因及其遗传基础有助于启动可能的治疗、明确预后，并确定未来妊娠的风险。在某些情况下，早期诊断还会影响其他家庭成员的治疗。我们报告了两名姐妹，她们自出生起就患有双侧视网膜脱离和晶状体后肿块，未检测到NDP或FZD4突变。她们的父母没有可检测到的视网膜异常。姐姐在1岁时发生了低冲击力骨折，进一步评估发现严重骨质减少和多处脊柱压缩性骨折。分子检测确定了双等位基因脂蛋白受体相关蛋白5（LRP5）突变（NM_002335.3:c.[889dupA]；[2827 + 1G > A]），确诊为骨质疏松 - 假性胶质瘤（OPPG）综合征。作出这一诊断后，发现父亲和母亲骨量偏低，父亲开始接受治疗。我们得出结论，早期检测LRP5突变对于启动患者及其携带突变亲属骨密度降低的治疗很重要。
