Long-term clinical prognosis of 335 infant single-gene positive FEVR cases

• Published in: BMC ophthalmology 2022-08, Vol.22 (1), p.1-329, Article 329
• Main Authors: Chen, Chunli, Cheng, Yizhe, Zhang, Zhihan, Zhang, Xiang, Li, Jiakai, Zhao, Peiquan, Peng, Xiaoyan
• Format: Article
• Language: English
• Subjects: Babies; Case studies; Clinical features; Cornea; Cryotherapy; Disease; Edema; Familial exudative vitreoretinopathy; Families & family life; Females; FEVR; Gene; Gene mutations; Genes; Genetic aspects; Genetic research; Genotypes; Infants; Lasers; LRP5 protein; Medical imaging; Medical prognosis; Mutation; Ophthalmology; Patients; Phenotypes; Point mutation; Prognosis; Relation between phenotypes and genotypes; Retina; Retinal detachment; Strabismus; Surgery; Vision
• ISSN: 1471-2415; 1471-2415
• DOI: 10.1186/s12886-022-02522-8

Purpose To describe and analyze the clinical prognosis of infants diagnosed of familial exudative vitreoretinopathy (FEVR) with single gene mutation in long-term follow-up. Methods A retrospective case study was conducted on 355 FEVR infants with single positive gene. Result Of the 335 single-gene positive infant FEVR cases (under 3 years old), 20% (n = 67) was diagnosed of strabismus at first visit. Staging of various genotypes was different (P < 0.001). Patients with NDP mutations presented the most severe clinical phenotypes and patients with ZNF408 mutations presented the mildest clinical phenotypes. Most infants underwent surgery under 1 year old (5.sup.th stage 75 of 108 [69.44%]). The axial length of different genotypes showed no significant difference (P = 0.2891). The 1.sup.st to 3.sup.rd stage cases were given intravitreal injection and/or retina photocoagulation with the last follow-up vision above 20/67. The 4.sup.th to 5.sup.th stage cases received the transcorneal vitrectomy with lensectomy or lens sparing vitrectomy (LSV), whose lens maintained transparent after LSV (11/14[78.58%]). After 2 to 10 years of follow-up, 37.96% (41/108) of post-surgery cases showed retinal funnel-like unfold and posterior pole unfold, 69.57% (16/ 23) of which received second surgery for closure of pupil with good prognosis. At the last follow-up, 20% (60/300) were with vision above 20/200. Conclusion LRP5 gene mutation was the most common mutation in FEVR patients. The severity of the clinical phenotype varied with different gene mutations. The main surgical methods for cases at Stage 4-5 were transcorneal vitrectomy with lensectomy or LSV. The earlier FEVR occurred, the worse prognosis would be. Active surgical intervention and lens sparing were necessary for cases at Stage 4-5. Keywords: FEVR, Gene, Clinical features, Relation between phenotypes and genotypes, Prognosis