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. 2022 Aug 2;22(1):329.
doi: 10.1186/s12886-022-02522-8.

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

Chunli Chen #  1   2   3 , Yizhe Cheng #  1   2 , Zhihan Zhang  1   2 , Xiang Zhang  4 , Jiakai Li  4 , Peiquan Zhao  5 , Xiaoyan Peng  6   7   8
Affiliations

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

Chunli Chen et al. BMC Ophthalmol. .

Abstract

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 (5th stage 75 of 108 [69.44%]). The axial length of different genotypes showed no significant difference (P = 0.2891). The 1st to 3rd stage cases were given intravitreal injection and/or retina photocoagulation with the last follow-up vision above 20/67. The 4th to 5th 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: Clinical features; FEVR; Gene; Prognosis; Relation between phenotypes and genotypes.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

The authors declare no conflicts of interest.

Figures

Fig. 1
Fig. 1
Clinical statistics of FEVR patients. Patients with monocular involvement (MI), patients with binocular involvement and mild manifestation (Stage 1–3) in both sides (BM), patients with binocular involvement and severe (Stage 4–5) manifestation in both sides (BS), and patients with binocular involvement and mild manifestation in one eye and severe manifestation in the other eye (B[M + S])
Fig. 2
Fig. 2
The correlation between clinical phenotype and mutant genes. Patients with monocular involvement (MI), patients with binocular involvement and mild manifestation (Stage 1–3) in both sides (BM), patients with binocular involvement and severe (Stage 4–5) manifestation in both sides (BS), and patients with binocular involvement and mild manifestation in one eye and severe manifestation in the other eye [B(M + S)]
Fig. 3
Fig. 3
The relation between the length of optic axis and gene
Fig. 4
Fig. 4
Picture A showed corneal degeneration and valgus collar of pupil. Picture B showed secondary glaucoma, becoming bigger and proptosis of the eyeball, mild corneal edema and disappearance of anterior chamber. Picture C1 showed obvious increase of IOP and orbital-celluitis-like change. Picture C2 showed smaller size of the right eye after high IOP for 3 days. Picture D showed closure of pupil and disappearance. Picture E showed corneal edema, anterior chamber disappearing with hemorrhage. Picture F showed plenty of cholesterol crystallization in the anterior chamber. Picture G showed flat posterior pole after surgery. Picture H showed funnel-shaped unfold after surgery. Picture I showed atrophy of the eyeball
See this image and copyright information in PMC

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