Retinoblastoma Referral Center, University of Siena, Siena, Italy.
Department of Ophthalmology, University of Siena, Siena, Italy.
Eur J Ophthalmol. 2021 May;31(3):NP81-NP84. doi: 10.1177/1120672120919344. Epub 2020 Apr 21.
This case report presents two patients affected by a very rare association of bilateral retinoblastoma and osteogenesis imperfecta.
Two Caucasian males with familial history and clinical signs of osteogenesis imperfecta came to our attention for bilateral leukocoria. The ocular fundus examination revealed bilateral retinoblastoma. Proper therapies were dispensed in order to achieve full regression. Genetic counseling was performed.
The primary role of genetics in retinoblastoma pathogenesis in widely known, and different genes have been identified. Osteogenesis imperfecta is a rare connective tissue disorders, caused by mutated genes encoding for collagen. The single gene defect in osteogenesis imperfecta type VI is Serpin Family F Member 1 (), a neurotrophic factor for the neuronal differentiation in retinoblastoma cells. The association of bilateral retinoblastoma and osteogenesis imperfecta could be the result of the mutation of a single gene playing a role in a hypothetical common pathway.
本病例报告介绍了两名双侧视网膜母细胞瘤合并成骨不全症的患者。
两名具有家族史和成骨不全症临床体征的白种男性因双侧白瞳症来我院就诊。眼底检查发现双侧视网膜母细胞瘤。给予适当的治疗以达到完全消退。进行了遗传咨询。
遗传学在视网膜母细胞瘤发病机制中的主要作用是众所周知的，已经确定了不同的基因。成骨不全症是一种罕见的结缔组织疾病，由编码胶原蛋白的基因突变引起。成骨不全症 VI 型的单个基因缺陷是 Serpin 家族 F 成员 1 ()，它是视网膜母细胞瘤细胞神经分化的神经营养因子。双侧视网膜母细胞瘤合并成骨不全症可能是单个基因突变的结果，该基因突变可能在一个假设的共同途径中发挥作用。
