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© 2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Purpose

To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma.

Methods

The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing (WES) to screen for variations.

Results

Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the miR-204 gene (n.37C>T), a noncoding RNA gene, was identified in these three members.

Conclusions

In this third independent and the first Asian family, the existence of a miR-204 variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of miR-204 as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal-dominant pattern, including in Chinese patients, miR-204 aberrations should be considered.

Details

Title
Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family
Author
Zhang, Lei 1 ; He-Lin, Zhu 1 ; Hai-Yan, Wang 1 ; Jia, Wei 1 ; Wang, Ru 1 ; Zhi-Li, Cui 1 ; Qian-Feng, Wang 2 

 Xi'an Key Laboratory of Digital Medical Technology of Ophthalmologic Imaging, Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, Shaanxi, China 
 Medical College of Optometry and Ophthalmology, Shandong University of Traditional Chinese Medicine, Jinan, Shandong, China 
Section
ORIGINAL ARTICLES
Publication year
2024
Publication date
Jun 2024
Publisher
John Wiley & Sons, Inc.
e-ISSN
23249269
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3073835008
Copyright
© 2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.