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Brief Report
June 6, 2019

Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort

Author Affiliations
  • 1Department of Ophthalmology, Xinhua Hospital, Medicine School of Shanghai Jiaotong University, Shanghai, China
  • 2Department of Ophthalmology, Tianjin Medical University Eye Hospital, Tianjin, China
  • 3Department of Ophthalmology, Shengli Oilfield Central Hospital, Shandong Province, China
JAMA Ophthalmol. 2019;137(9):1054-1058. doi:10.1001/jamaophthalmol.2019.1493
Key Points

Question  What are the clinical and genetic features of familial exudative vitreoretinopathy with only-unilateral abnormalities in a cohort of Han Chinese patients?

Findings  In this study involving 621 patients with familial exudative vitreoretinopathy, 20 were identified with only-unilateral abnormalities, in which the LRP5 gene was identified in more than half of all mutations.

Meaning  The findings of this study suggest that identification of unilateral peripheral retinal abnormalities should also consider familial exudative vitreoretinopathy and variable phenotypic penetrance of the retinal abnormalities can lead to seemingly unilateral disease.

Abstract

Importance  Familial exudative vitreoretinopathy (FEVR) with only-unilateral abnormalities may masquerade as other vitreoretinal disorders. Clinicians should be vigilant of patients with unilateral FEVR, recognizing that the relatively normal vision of the fellow eye could compromise a patient’s attention to the decreasing vision of the affected eye.

Objective  To describe the clinical findings and genetic spectrum of patients with FEVR and only-unilateral abnormalities.

Design, Setting, and Participants  A medical records review included all patients (N = 621) with a diagnosis of FEVR between January 1, 2010, and October 31, 2017, from Xinhua Hospital in Shanghai, China. Patients were excluded if retinal abnormalities were noted in both eyes or if a diagnosis of FEVR could not be confirmed by genetic testing. Inclusion criteria included clinical diagnosis of FEVR with only-unilateral features on widefield angiography and confirmed mutations in 5 FEVR targeted genes (LRP5, FZD4, ZNF408, NDP, and TSPAN12).

Exposures  Clinical data were collected from patient medical records. Widefield angiography and targeted gene sequencing were performed in all patients of this cohort.

Main Outcomes and Measures  Clinical findings and genetic spectrum.

Results  Of the 621 patients with a clinical diagnosis of FEVR, 20 with unilateral FEVR (3.22%; 95% CI, 1.83%-4.61%; 18 males [90%] and a mean [SD] age at presentation of 2.6 [2.7] years) were identified. All patients were Han Chinese. The most common clinical presentations were total retinal detachment (12 [60%]) and retinal fold (6 [30%]). Mutations in the LRP5 gene were the most prevalent (11 [55%]), followed by the genes FZD4 (4 [20%]), ZNF408 (2 [10%]), TSPAN12 (2 [10%]), and NDP (1 [5%]).

Conclusions and Relevance  The findings of this study suggest that the identification of unilateral peripheral retinal abnormalities should include a consideration of FEVR, perhaps more often seen with mutations in the LRP5 gene; variable phenotypic penetrance of the retinal abnormalities can lead to seemingly unilateral disease.

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