J Korean Ophthalmol Soc.
2020 Apr;61(4):444-448. 10.3341/jkos.2020.61.4.444.
Type III Usher Syndrome in the Republic of Korea
- Affiliations
-
- 1Department of Ophthalmology, Jeonbuk National University Medical School, Jeonju, Korea
- 2Research Institute of Clinical Medicine, Jeonbuk National University, Jeonju, Korea
- 3Biomedical Research Institute, Jeonbuk National University Hospital, Jeonju, Korea
- KMID: 2500113
- DOI: http://doi.org/10.3341/jkos.2020.61.4.444
Abstract
- Purpose
To report a case of type III Usher syndrome that has not been previously reported in the Republic of Korea.
Case summary
A 39-year-old female visited the local eye clinic for ophthalmic evaluation and then visited our ophthalmology department due to a need for further evaluation and proper management. She complained of night blindness after she became an adult. She underwent a funduscopic examination, which revealed decolorization and atrophy of the retinal pigment epithelium, bony spicule pigmentation in the retina, and thinning of the retinal arteriole. Results of an electroretinogram and electrooculogram revealed that responses were weak. She was diagnosed with the fourth grade of hearing impairment according to her medical history. There was no mental retardation. According to her family history, her mother had hypermetropia, and her brother had astigmatism. There was no other medical history, including ophthalmic history. She was diagnosed with type III Usher syndrome based on ataxia and the dynamic visual acuity test.
Conclusions
It may be necessary to consider a genetic disease by assessing other systemic symptoms when a patient with retinitis pigmentosa is diagnosed.
