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

Author:

Liu Jinghua12,Liu Ying3,Wang Liming24,Zhang Xiaohan12,Hao Peng24,Li Xuan124ORCID

Affiliation:

1. Tianjin Medical University, Tianjin, China

2. Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Laboratory of Ophthalmology and Visual Science, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China

3. Southwest Medical University, Luzhou, China

4. Nankai University Eye Hospital, Tianjin, China

Abstract

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.

Funder

National Natural Science Foundation of China

Publisher

SAGE Publications

Subject

Biochemistry (medical),Cell Biology,Biochemistry,General Medicine

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