Type III Usher Syndrome in the Republic of Korea
10.3341/jkos.2020.61.4.444
- Author:
Joon Hyung KIM
1
;
So Ra BANG
;
Jin Gu JEONG
;
Nam Chun CHO
Author Information
1. Department of Ophthalmology, Jeonbuk National University Medical School, Jeonju, Korea
- Publication Type:Case Report
- From:Journal of the Korean Ophthalmological Society
2020;61(4):444-448
- CountryRepublic of Korea
-
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 ophthalmologydepartment due to a need for further evaluation and proper management. She complained of night blindness after she becamean 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 electrooculogramrevealed that responses were weak. She was diagnosed with the fourth grade of hearing impairment according to hermedical history. There was no mental retardation. According to her family history, her mother had hypermetropia, and her brotherhad astigmatism. There was no other medical history, including ophthalmic history. She was diagnosed with type III Usher syndromebased 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 retinitispigmentosa is diagnosed.
