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Ocular Manifestations of ROSAH Syndrome Caused by Different Mutations of the ALPK1 Gene.
Sun Zixi, Wei Xing, Han Xiaoxu, Liu Huixin, Zou Xuan, Li Hui et al.
Am J OphthalmolOct 20251 citationsCase Series
ROSAH syndrome patients consistently show optic disc edema and progressive, RP-like retinal degeneration. A novel ALPK1 mutation (T237A) causes milder, exclusively ocular disease, aiding diagnosis and understanding phenotypic variability.