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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2020
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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. |
format | Online Article Text |
id | pubmed-7221477 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
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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