Article
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy.
Ophthalmic genetics - 1 Feb 2021
Roshandel Danial, Thompson Jennifer A, Charng Jason, Zhang Dan, Chelva Enid, Arunachalam Sukanya, Attia Mary S, Lamey Tina M, McLaren Terri L, De Roach John N, Mackey David A, Wilton Steve D, Fletcher Sue, McLenachan Samuel, Chen Fred K
Abstract excerpt
BACKGROUND: Mutations in the splicing factor pre-messenger RNA processing factor 31 (PRPF31) gene cause autosomal dominant retinitis pigmentosa 11 (RP11) through a haplo-insufficiency mechanism. We describe the phenotype and progression of microperimetry and autofluorescence endpoints in an Indigenous Australian RP11 family. PATIENTS AND METHODS: Ophthalmic examination, optical coherence tomography, fundus...
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