A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases
Author:
Corresponding Author:

Xu Zhang. Affiliated Eye Hospital of Nanchang University, 463 Bayi Road, Nanchang 330006, Jiangxi Province, China. xuzhang19@163.com

Affiliation:

Clc Number:

Fund Project:

Supported by the National Natural Science Foundation of China (No.81271425; No.81860170); the Natural Science Foundation of Jiangxi Province (No.20181ACG70010).

  • Article
  • |
  • Figures
  • |
  • Metrics
  • |
  • Reference
  • |
  • Related
  • |
  • Cited by
  • |
  • Materials
  • |
  • Comments
    Abstract:

    AIM: To characterize the ophthalmic clinical phenotype of a family with retinitis pigmentosa (RP) and closed-angle glaucoma and to detect pathogenic genes and mutation sites causing RP in this family. METHODS: Ophthalmic clinic performance was examined in detail in 8 enrolled family members. Genomic DNA was extracted from the peripheral blood of 4 family members for whole-exome sequencing (WES) to select potential genetic mutations whose structures were identified by bioinformatics analysis. Then, Sanger sequencing was used in 12 family members and control group members to validate and confirm the disease-causing mutation loci, and we analyzed the genotype-phenotype relationships. RESULTS: The known c.512C>T (p.P171L) mutation in the rhodopsin (RHO) gene was only found in afflicted family members and was confirmed by WES and Sanger sequencing as the pathogenic mutation in this family. In addition to being diagnosed with RP, family member III:4 was found to have bilateral closed-angle glaucoma, high myopia, and concurrent cataracts, and family members II:2 and II:4 had pathological changes of anterior chamber angle narrowing. Family members IV:3 and IV:4 were found to have retinoschisis. CONCLUSION: Glaucoma and related pathological changes, such as retinoschisis, in family members are preliminarily considered RP complications caused by RHO mutation.

    Reference
    Related
    Cited by
Get Citation

Hong-Dou Luo, Shao-Nan Pei, Ai-Jia Wang, et al. A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases. Int J Ophthalmol, 2023,16(12):1962-1970

Copy
Share
Article Metrics
  • Abstract:
  • PDF:
  • HTML:
  • Cited by:
Publication History
  • Received:February 09,2023
  • Revised:September 26,2023
  • Adopted:
  • Online: November 22,2023
  • Published: