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

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-gen...

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Autores principales: Chen, Chunli, Cheng, Yizhe, Zhang, Zhihan, Zhang, Xiang, Li, Jiakai, Zhao, Peiquan, Peng, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9347171/
https://www.ncbi.nlm.nih.gov/pubmed/35918671
http://dx.doi.org/10.1186/s12886-022-02522-8
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author Chen, Chunli
Cheng, Yizhe
Zhang, Zhihan
Zhang, Xiang
Li, Jiakai
Zhao, Peiquan
Peng, Xiaoyan
author_facet Chen, Chunli
Cheng, Yizhe
Zhang, Zhihan
Zhang, Xiang
Li, Jiakai
Zhao, Peiquan
Peng, Xiaoyan
author_sort Chen, Chunli
collection PubMed
description 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(th) stage 75 of 108 [69.44%]). The axial length of different genotypes showed no significant difference (P = 0.2891). The 1(st) to 3(rd) stage cases were given intravitreal injection and/or retina photocoagulation with the last follow-up vision above 20/67. The 4(th) to 5(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.
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spelling pubmed-93471712022-08-04 Long-term clinical prognosis of 335 infant single-gene positive FEVR cases Chen, Chunli Cheng, Yizhe Zhang, Zhihan Zhang, Xiang Li, Jiakai Zhao, Peiquan Peng, Xiaoyan BMC Ophthalmol Research 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(th) stage 75 of 108 [69.44%]). The axial length of different genotypes showed no significant difference (P = 0.2891). The 1(st) to 3(rd) stage cases were given intravitreal injection and/or retina photocoagulation with the last follow-up vision above 20/67. The 4(th) to 5(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. BioMed Central 2022-08-02 /pmc/articles/PMC9347171/ /pubmed/35918671 http://dx.doi.org/10.1186/s12886-022-02522-8 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Chen, Chunli
Cheng, Yizhe
Zhang, Zhihan
Zhang, Xiang
Li, Jiakai
Zhao, Peiquan
Peng, Xiaoyan
Long-term clinical prognosis of 335 infant single-gene positive FEVR cases
title Long-term clinical prognosis of 335 infant single-gene positive FEVR cases
title_full Long-term clinical prognosis of 335 infant single-gene positive FEVR cases
title_fullStr Long-term clinical prognosis of 335 infant single-gene positive FEVR cases
title_full_unstemmed Long-term clinical prognosis of 335 infant single-gene positive FEVR cases
title_short Long-term clinical prognosis of 335 infant single-gene positive FEVR cases
title_sort long-term clinical prognosis of 335 infant single-gene positive fevr cases
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9347171/
https://www.ncbi.nlm.nih.gov/pubmed/35918671
http://dx.doi.org/10.1186/s12886-022-02522-8
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