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Article

Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1).

Translational vision science & technology - 1 Apr 2020

Bennett Lea D, Klein Martin, John Finny T, Radojevic Bojana, Jones Kaylie, Birch David G

Abstract excerpt

Purpose: Mutations in the inosine monophosphate dehydrogenase 1 (IMPDH1) gene are a common cause of inherited retinal degeneration (IRD). Due to species- and tissue-dependent expression of IMPDH1, there are no appropriate models of human IMPDH1 disease. Therefore, a limited understanding remains of disease expression and rates of progression for IMPDH1-related IRD. Methods: We evaluated semiautomated kinetic and...

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Identifiers

PMID: 32821486
DOI: 10.1167/tvst.9.5.14
PMCID: PMC7401855

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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