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NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION.

Retinal cases & brief reports - 1 Jul 2023

Carrera William, Ng Caleb, Burckhard Braden, Ng Joshua, McDonald Henry Richard, Agarwal Anita

Abstract excerpt

PURPOSE: To describe a case of nonsyndromic retinitis pigmentosa caused by presumed compound heterozygous A615T and T522M mutations in HGSNAT, characterized by bilateral cystoid macular edema and retinal neovascularization. METHODS: Case report. The patient underwent clinical evaluation, multimodal imaging, and next-generation panel sequencing. In silico analysis was performed with PolyPhen-2, SIFT, and...

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PMID: 34580245
DOI: 10.1097/ICB.0000000000001193

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