Dataset Information

Dry-Lensectomy Assisted Lensectomy in the Management for End-Stage Familial Exudative Vitreoretinopathy Complicated With Anterior Segment Abnormalities.

ABSTRACT:

Purpose

To report a modified technique of dry-lensectomy assisted lensectomy in the management of end-stage familial exudative vitreoretinopathy (FEVR) complicated with capsule-endothelial, iris-endothelial adhesion and secondary glaucoma.

Methods

24 eyes of 16 patients with severe complications of advanced pediatric total retinal detachment caused by FEVR who received limbus-based dry-lensectomy were studied retrospectively. Preoperative and postoperative clinical information was collected and reviewed.

Results

Among the 24 eyes, three eyes (12.50%) underwent lensectomy combined with vitrectomy and membrane peeling simultaneously. 21 (87.50%) eyes underwent lensectomy without membrane peeling due to severe corneal opacity or retinal vascular activity, of which eight underwent another vitrectomy combined with membrane peeling. At the last visit (mean:13.86 ± 5.24 months of follow-up), all eyes had a reconstructed anterior chamber with normal depth. Among 21 eyes having preoperative corneal opacity, 15 (71.43%) had a clearer cornea with reduced opacity, 5 (23.81%) showed similar corneal opacification without deterioration. Among 11 eyes undergone retrolental fibroplasia peeling, seven (63.64%) eyes showed partial retinal reattachment in open-funnel type.

Conclusion

Dry-lensectomy offered a simple way to lower the intraocular pressure and simplified the surgery, which helped to solve the severe anterior segment complications and offer a chance for following retrolental fibroplasia peeling and potential visual gain for selected end-stage FEVR patients.

SUBMITTER: Peng J

PROVIDER: S-EPMC9099142 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Publications

Dry-Lensectomy Assisted Lensectomy in the Management for End-Stage Familial Exudative Vitreoretinopathy Complicated With Anterior Segment Abnormalities.

Peng Jie J Zhao Ziwei Z Zou Yihua Y Zhang Xuerui X Yang Yuan Y Huang Qiujing Q Xu Mingpeng M Xu Yu Y Zhao Peiquan P

Frontiers in medicine 20220429

<h4>Purpose</h4>To report a modified technique of dry-lensectomy assisted lensectomy in the management of end-stage familial exudative vitreoretinopathy (FEVR) complicated with capsule-endothelial, iris-endothelial adhesion and secondary glaucoma.<h4>Methods</h4>24 eyes of 16 patients with severe complications of advanced pediatric total retinal detachment caused by FEVR who received limbus-based dry-lensectomy were studied retrospectively. Preoperative and postoperative clinical information was ...[more]

PMID: 35572974

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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.

Project description:PurposeTo expand the mutation spectrum of patients with familial exudative vitreoretinopathy (FEVR) disease.Participants74 probands (53 families and 21 sporadic probands) with familial exudative vitreoretinopathy (FEVR) disease and their available family members (n = 188) were recruited for sequencing.MethodsPanel-based targeted screening was performed on all subjects. Before sanger sequencing, variants of LRP5, NDP, FZD4, TSPAN12, ZNF408, KIF11, RCBTB1, JAG1, and CTNNA1 genes were verified by a series of bioinformatics tools and genotype-phenotype co-segregation analysis.Results40.54% (30/74) of the probands were sighted to possess at least one etiological mutation of the nine FEVR-causative genes. The etiological mutation detection rate was 37.74% (20/53) in family-attainable probands while 47.62% (10/21) in sporadic cases. The diagnosis rate of patients in the early-onset subgroup (≤5 years old, 45.4%) is higher than that of the children or adolescence-onset subgroup (6-16 years old, 42.1%) and the late-onset subgroup (≥17 years old, 39.4%). A total of 36 etiological mutations were identified in this study, comprising 26 novel mutations and 10 reported mutations. LRP5 was the most prevalent mutant gene among the 36 mutation types with a percentage of 41.67% (15/36). Followed by FZD4 (10/36, 27.78%), TSPAN12 (5/36, 13.89%), NDP (4/36, 11.11%), KIF11 (1/36, 2.78%), and RCBTB1 (1/36, 2.78%). Among these mutations, 63.89% (23/36) were missense mutations, 25.00% (9/36) were frameshift mutations, 5.56% (2/36) were splicing mutations, 5.56% (2/36) were nonsense mutations. Moreover, the clinical pathogenicity of these variants was defined according to American College of Medical Genetics (ACMG) and genomics guidelines: 41.67% (15/36) were likely pathogenic variants, 27.78% (10/36) pathogenic variants, 30.55% (11/36) variants of uncertain significance. No etiological mutations discovered in the ZNF408, JAG1, and CTNNA1 genes in this FEVR cohort.ConclusionsWe systematically screened nine FEVR disease-associated genes in a cohort of 74 Chinese probands with FEVR disease. With a detection rate of 40.54%, 36 etiological mutations of six genes were authenticated in 30 probands, including 26 novel mutations and 10 reported mutations. The most prevalent mutated gene is LRP5, followed by FZD4, TSPAN12, NDP, KIF11, and RCBTB1. In total, a de novo mutation was confirmed. Our study significantly clarified the mutation spectrum of variants bounded up to FEVR disease.

Dataset Information

Dry-Lensectomy Assisted Lensectomy in the Management for End-Stage Familial Exudative Vitreoretinopathy Complicated With Anterior Segment Abnormalities.

Purpose

Methods

Results

Conclusion

Publications

Dry-Lensectomy Assisted Lensectomy in the Management for End-Stage Familial Exudative Vitreoretinopathy Complicated With Anterior Segment Abnormalities.

Similar Datasets

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