两个ROSAH类综合征的病例仅限于眼科呈现

Laurie Mourozeau1, Virginie Pichon2,3, Aymane Bouzidi3

  • 1Department of Ophthalmology, University Hospital of Angers, Angers, France.

PubMed
概括

在ALPK1基因中,一种罕见的遗传变异导致一种类似ROSAH的综合征,呈现为严重的视网膜缩和视神经胀. 这种疾病对标准治疗有抗性,缺乏典型的全身症状.

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