Dataset Information

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.

ABSTRACT:

Purpose

To investigate the clinical findings in Chinese patients diagnosed with familial exudative vitreoretinopathy (FEVR) and carrying pathogenic mutations.

Methods

One hundred twenty unrelated patients with FEVR were enrolled in this study. Genomic DNA and ophthalmic examinations were collected from all the patients and their available relatives. Targeted next-generation sequencing was performed to detect mutations. In silico programs were used to evaluate the pathogenicity of all the mutations.

Results

Eighty identified mutations were found in 81 unrelated patients (31/81 in LRP5, 25/81 in FZD4, 12/81 in TSPAN12, 8/81 in NDP, 4/81 in KIF11, and 1/81 in ZNF408). Among those mutations, 53 were novel (23/35 in LRP5, 15/21 in FZD4, 8/11 in TSPAN12, 3/8 in NDP, 3/4 in KIF11, 1/1 in ZNF408). Patients with LRP5, FZD4, TSPAN12, or NDP mutations were mainly classified into stage 4 and stage 5 and one-half of patients with KIF11 mutations were in stage 4. In addition, all the patients in NDP group were found to have bilateral symmetry in FEVR stage.

Conclusions

Our results present profound phenotypic variability and a wide mutation spectrum of FEVR in the Chinese population, which could be useful for a precise and comprehensive genetic diagnosis for patients with FEVR in the future.

SUBMITTER: Tao T

PROVIDER: S-EPMC8648064 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ImportanceFamilial 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.ObjectiveTo describe the clinical findings and genetic spectrum of patients with FEVR and only-unilateral abnormalities.Design, setting, and participantsA 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).ExposuresClinical data were collected from patient medical records. Widefield angiography and targeted gene sequencing were performed in all patients of this cohort.Main outcomes and measuresClinical findings and genetic spectrum.ResultsOf 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 relevanceThe 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.