Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean
Sungsoon Hwang, Se Woong Kang, Ja-Hyun Jang, Sang Jin Kim · 2023
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Description
Sungsoon Hwang and co-authors present a 2023 study of gene linked retinal decay in Korean patients. One gene, PROM1, can drive the slow loss of light sensing cells. The team set out to map the gene forms and eye traits of such cases at one Seoul center.
Charts of dystrophy patients tested between 2016 and 2023 were reviewed. Seven patients from five unrelated families carried a harmful PROM1 form, and all seven shared the same one. All showed decay in the central retina, and five had decay at the edges too. The span of decay varied much, even inside one family. Wide field scans caught mild edge decay that plain exams missed.
Catalog record
| CREATOR | Sungsoon Hwang, Se Woong Kang, Ja-Hyun Jang, Sang Jin Kim |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 33 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |