Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

Tianwei Qian; Qiaoyun Gong; Hangqi Shen; Caihua Li; Gao Wang; Xun Xu; Isabelle Schrauwen; Weijun Wang

doi:10.1186/s12886-022-02301-5

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

BMC Ophthalmol. 2022 Feb 11;22(1):69. doi: 10.1186/s12886-022-02301-5.

Authors

Tianwei Qian^#^{1

2

3

4

5

6}, Qiaoyun Gong^#^{1

2

3

4

5}, Hangqi Shen^{1

2

3

4

5}, Caihua Li⁷, Gao Wang⁶, Xun Xu^{1

2

3

4

5}, Isabelle Schrauwen⁸, Weijun Wang^{9

10

11

12

13}

Affiliations

¹ Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd, Shanghai, 200080, China.
² National Clinical Research Center for Eye Diseases, Shanghai, China.
³ Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
⁴ Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China.
⁵ Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Disease, Shanghai, China.
⁶ Department of Neurology, Columbia University Medical Center, 630W 168th St, New York, 10032, USA.
⁷ Genesky Biotechnologies Inc, Shanghai, China.
⁸ Department of Neurology, Columbia University Medical Center, 630W 168th St, New York, 10032, USA. is2632@cumc.columbia.edu.
⁹ Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd, Shanghai, 200080, China. weij719@126.com.
¹⁰ National Clinical Research Center for Eye Diseases, Shanghai, China. weij719@126.com.
¹¹ Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China. weij719@126.com.
¹² Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China. weij719@126.com.
¹³ Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Disease, Shanghai, China. weij719@126.com.

^# Contributed equally.

Abstract

Background: The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus.

Methods: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was performed. Variants were validated with Sanger sequencing.

Results: Six members in this Chinese family, including three affected individuals and three controls, were recruited in this study. The ophthalmic examination of three recruited patients was consistent with fundus albipunctatus. Three variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter.

Conclusion: We identified novel compound heterozygous variants in RDH5 responsible for fundus albipunctatus in a large Chinese family. The results of our study further broaden the genetic defects of RDH5 associated with fundus albipunctatus.

Keywords: Frameshift deletion; Fundus albipunctatus; Missense variants; RDH5 gene.

MeSH terms

Alcohol Oxidoreductases* / genetics
China
Electroretinography
Humans
Mutation
Night Blindness*
Pedigree
Polymerase Chain Reaction
Retinal Dehydrogenase
Retinal Diseases
Retinal Dystrophies*
Tomography, Optical Coherence

Substances

Alcohol Oxidoreductases
retinol dehydrogenase 5
Retinal Dehydrogenase

Supplementary concepts

Fundus Albipunctatus