Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene.

ABSTRACT:

Purpose

Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the NDP gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease.

Observations

A retrospective chart review of the patient's ocular and systemic findings and imaging results was performed. The patient had received genetic testing, including mutational analysis of targeted genes associated with retrolental masses. The patient had a comprehensive eye exam for bilateral leukocoria, demonstrating large retrolental masses, anterior polar cataracts, stretched ciliary processes, and roving eye movements. B-scan ultrasonography and magnetic resonance imaging indicated total, funnel-shaped retinal de

SUBMITTER: Zhou Y 

PROVIDER: S-EPMC8220341 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature