| Autor: |
Ganne, P, Mootha, V V, Mahindrakar, A, Adusumilli, H |
| Předmět: |
|
| Zdroj: |
QJM: An International Journal of Medicine; Jan2024, Vol. 117 Issue 1, p51-52, 2p |
| Abstrakt: |
This article discusses a case of a 38-year-old man who presented with decreased vision in both eyes. The patient had Sturge Weber Syndrome (SWS), a rare neurocutaneous disease that affects the brain, skin, and eyes. The patient also had rod cone dystrophy (RCD), a form of retinitis pigmentosa. The article suggests that genes in the 17p1-p13 region may be involved in cases of SWS with associated abnormalities like RCD. This case is a rare occurrence, with only two other similar cases reported in the literature. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
