Zaslavsky Kirill, Vincent Ajoy, Ertl-Wagner Birgit Betina, Brundler Marie-Anne, Mallipatna Ashwin
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Ophthalmic Genet. 2025 Aug;46(4):401-405. doi: 10.1080/13816810.2024.2427879. Epub 2024 Dec 8.
Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder characterized by abnormal retinal vascular development. While it typically presents in childhood, distinguishing it from retinoblastoma in young infants can be challenging, especially in cases with asymmetric and advanced manifestations.
Case report.
A 2-month-old female with microcephaly and intrauterine growth restriction (IUGR) presented with a left eye intraocular mass involving the entire globe and a flat anterior chamber. MRI showed no calcifications or contrast enhancement typical of retinoblastoma. Intravenous fluorescein angiography showed incomplete vascularization in the contralateral eye with compensatory neovascularization. The left eye was enucleated, and histology demonstrated a dysplastic retina with a retrolental membrane and abnormal vascular proliferations, confirming a diagnosis of FEVR. Genetic testing identified a novel pathogenic p.Gly635* variant, inherited from the mother in whom it was present at 10-20% mosaicism.
Variants in cause of CTNNB1-neurodevelopmental disorder, characterized by microcephaly, IUGR, autism spectrum disorder, intellectual disability, and FEVR in 20-40% of cases. Affected children present at an early age and advanced stages of disease. This case highlights that FEVR can have a highly asymmetric and advanced presentation at an early age and must be distinguished from retinoblastoma in the differential diagnosis of leukocoria.
家族性渗出性玻璃体视网膜病变（FEVR）是一种罕见的遗传性疾病，其特征为视网膜血管发育异常。虽然它通常在儿童期出现，但在幼儿中将其与视网膜母细胞瘤区分开来可能具有挑战性，尤其是在表现不对称和病情进展的情况下。
病例报告。
一名患有小头畸形和宫内生长受限（IUGR）的2个月大女性，左眼出现累及整个眼球的眼内肿块和扁平前房。MRI显示无视网膜母细胞瘤典型的钙化或对比增强。静脉荧光素血管造影显示对侧眼血管化不完全，并伴有代偿性新生血管形成。左眼行眼球摘除术，组织学检查显示视网膜发育异常，有晶状体后膜和异常血管增生，确诊为FEVR。基因检测发现一个新的致病性p.Gly635*变异，该变异从母亲遗传而来，母亲的该变异呈10%-20%的嵌合状态。
CTNNB1基因变异导致神经发育障碍，其特征为小头畸形、IUGR、自闭症谱系障碍、智力残疾，20%-40%的病例伴有FEVR。受影响的儿童在疾病早期和晚期出现症状。该病例突出表明，FEVR在早期可能有高度不对称和病情进展的表现，在白瞳症的鉴别诊断中必须与视网膜母细胞瘤区分开来。
