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Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation

Progressive hemifacial atrophy (PHA) is mainly characterized by asymmetrical atrophy of craniofacial tissue; however, 10% to 30% of patients with PHA exhibit ocular manifestations. Here, we describe abnormal ocular findings in a Chinese patient with PHA. The patient was a 29-year-old Chinese man. Ch...

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Autores principales: Liu, Jinghua, Liu, Ying, Wang, Liming, Zhang, Xiaohan, Hao, Peng, Li, Xuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7221477/
https://www.ncbi.nlm.nih.gov/pubmed/32351147
http://dx.doi.org/10.1177/0300060520910635
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author Liu, Jinghua
Liu, Ying
Wang, Liming
Zhang, Xiaohan
Hao, Peng
Li, Xuan
author_facet Liu, Jinghua
Liu, Ying
Wang, Liming
Zhang, Xiaohan
Hao, Peng
Li, Xuan
author_sort Liu, Jinghua
collection PubMed
description Progressive hemifacial atrophy (PHA) is mainly characterized by asymmetrical atrophy of craniofacial tissue; however, 10% to 30% of patients with PHA exhibit ocular manifestations. Here, we describe abnormal ocular findings in a Chinese patient with PHA. The patient was a 29-year-old Chinese man. Characteristic ocular findings in his affected eye included keratic precipitate, corneal endothelial degeneration, fundus tessellation, pupillary dilation, direct light reflex loss, and visual evoked potential alteration. Whole exosome sequencing revealed that the patient harbored a mutation in the CRB1 gene; this gene has been associated with various retinal dystrophies. During 10 years of follow-up, the patient’s ocular status remained stable. To the best of our knowledge, this is the first report of ocular manifestations of PHA in a Chinese patient, and the first report of a CRB1 mutation in a patient with PHA; these findings may inform future research regarding PHA.
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spelling pubmed-72214772020-05-18 Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation Liu, Jinghua Liu, Ying Wang, Liming Zhang, Xiaohan Hao, Peng Li, Xuan J Int Med Res Case Report Progressive hemifacial atrophy (PHA) is mainly characterized by asymmetrical atrophy of craniofacial tissue; however, 10% to 30% of patients with PHA exhibit ocular manifestations. Here, we describe abnormal ocular findings in a Chinese patient with PHA. The patient was a 29-year-old Chinese man. Characteristic ocular findings in his affected eye included keratic precipitate, corneal endothelial degeneration, fundus tessellation, pupillary dilation, direct light reflex loss, and visual evoked potential alteration. Whole exosome sequencing revealed that the patient harbored a mutation in the CRB1 gene; this gene has been associated with various retinal dystrophies. During 10 years of follow-up, the patient’s ocular status remained stable. To the best of our knowledge, this is the first report of ocular manifestations of PHA in a Chinese patient, and the first report of a CRB1 mutation in a patient with PHA; these findings may inform future research regarding PHA. SAGE Publications 2020-04-30 /pmc/articles/PMC7221477/ /pubmed/32351147 http://dx.doi.org/10.1177/0300060520910635 Text en © The Author(s) 2020 https://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Liu, Jinghua
Liu, Ying
Wang, Liming
Zhang, Xiaohan
Hao, Peng
Li, Xuan
Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation
title Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation
title_full Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation
title_fullStr Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation
title_full_unstemmed Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation
title_short Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation
title_sort progressive hemifacial atrophy with characteristic ocular manifestations in a chinese patient with a crb1 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7221477/
https://www.ncbi.nlm.nih.gov/pubmed/32351147
http://dx.doi.org/10.1177/0300060520910635
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