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.

BackgroundTo report a case of choroidal metastatic carcinoma accompanied by Sjögren syndrome (SS) initially presenting as acute glaucoma with angle closure.Case PresentationA 47-year-old woman complaining about swelling pain and blurred vision in the right eye for 3 days had a notable previous history of dry eyes, dry mouth, and joint pain. In another clinic, she was misdiagnosed as having acute glaucoma with angle closure, but she had poor response to eye drops and intravenous drip of mannitol for controlling intraocular pressure. The intraocular pressure in the right eye was 49 mm Hg, yet with clear cornea, shallow peripheral anterior chamber depth with 1/4 cornea thickness and fixed and dilated pupil. Macular folds were noted through a 90-D lens via slit lamp. Therefore, the diagnosis of secondary glaucoma was considered. Further examinations were conducted. Ultrawide-field fundus image showed retinal detachment with choroidal detachment in the right eye with suspected solid occupation of choroid metastatic cancer. B-scan ultrasound showed an elevated mass in the posterior pole of the ocular wall. The patient showed very good response to local corticosteroid eye drops after 3 days with deepening of the anterior chamber and significant decline of intraocular pressure. The brain, ocular magnetic resonance imaging, and lung computed tomography with enhancement showed lung cancer and choroidal metastatic carcinoma. Immunological abnormalities and symptoms supported the diagnosis of SS. After 1-month systematic chemotherapy and local–regional radiotherapy, retinal and choroidal detachment was restored with a stable intraocular pressure.ConclusionThe ophthalmologist should pay attention to differential diagnosis of angle-closure glaucoma from secondary glaucoma in cases with choroidal–retinal detachment or macular folds, which could be an ocular manifestation of choroidal metastatic carcinoma or SS in rare condition.

Supplemental Digital Content is Available in the Text.This retrospective study is to analyze the clinical features of LRP5 gene mutation-related familial exudative vitreoretinopathy and explore the potential correlation between the phenotype and genotype on LRP5 gene.