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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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Main Authors: Sachiko Nishina, Kaoruko Torii, Hazuki Anzai, Tomoyo Yoshida, Toshinao Kawai, Maki Fukami, Hirotomo Saitsu, Yoshihiro Hotta
Format: Artigo
Language:Inglês
Published: Elsevier 2026-06-01
Series:JFO Open Ophthalmology
Subjects:
ROSAH syndrome
ALPK1, papillary edema
Retinal dystrophy
Genetic analysis
Online Access:http://www.sciencedirect.com/science/article/pii/S2949889926000073
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