Journal of Otolaryngology and Ophthalmology of Shandong University ›› 2023, Vol. 37 ›› Issue (3): 93-97.doi: 10.6040/j.issn.1673-3770.0.2022.044

• 论著 • Previous Articles    

Oculocerebrorenal syndrome of lowe with glaucoma: a case report

ZHANG Yi, TANG Li   

  1. Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan, China
  • Published:2023-05-24

Abstract: Lowe syndrome is a rare X-linked disease. The diagnosis mainly depends on clinical manifestations and gene sequencing. We present a male patient with Lowe syndrome with glaucoma, which was diagnosed after cataract surgery. The patient also underwent surgical treatment for the glaucoma. It is suggested that patients with Lowe syndrome need long-term follow-up. To the best of our knowledge, this frameshift mutation has not yet been reported in domestic literature. Our findings expand the phenotypic and genotypic spectrum of Lowe syndrome.

Key words: Lowe syndrome, Oculocerebrorenal syndrome, OCRL gene, Glaucoma, Congenital cataracts

CLC Number: 

  • R775.3
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