Long-term observation of retinal dystrophy genetically diagnosed as ROSAH syndrome

Purpose: To report a case of ROSAH syndrome (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and headache) that was diagnosed by genetic analysis. Observations: Here we describe long-term observations of a 24-year-old male patient with retinal dystrophy who had been followed since age...

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מידע ביבליוגרפי

Principais autores:	Sachiko Nishina, Kaoruko Torii, Hazuki Anzai, Tomoyo Yoshida, Toshinao Kawai, Maki Fukami, Hirotomo Saitsu, Yoshihiro Hotta
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Elsevier 2026-06-01
סדרה:	JFO Open Ophthalmology
נושאים:	ROSAH syndrome ALPK1, papillary edema Retinal dystrophy Genetic analysis
גישה מקוונת:	http://www.sciencedirect.com/science/article/pii/S2949889926000073
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!