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

Purpose: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the 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 detachments, which is a unique retinal configuration in Norrie disease. Genetic testing confirmed deletion of the coding region of all three exons in the gene, which confirmed Norrie disease. He has not shown any extraocular involvement to date.

Conclusions And Importance: This is a case demonstrating the association between deletion of the coding region gene and Norrie disease. The phenotypical variation of this disease warrants further studies of genotype-phenotype correlations and mutations of the gene.