Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant.

doi:10.1007/s10633-026-10084-z

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Article

Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2026

Barboni Mirella, Jávorszky Eszter, Quinodoz Mathieu, Han Ji Hoon, Resch Miklós, Nagy Zoltán Zsolt, Rivolta Carlo, Tory Kálmán, Szabó Viktória

Abstract excerpt

PURPOSE: A hallmark of the IMPDH1-related rod-cone dystrophy is the highly variable expressivity. Disease onset, severity and progression are variant-dependent due to specific affected photoreceptor mechanisms, underscoring the importance of genotype-phenotype correlations. We provide a detailed clinical characterization of a patient with rod-cone dystrophy caused by a rare de novo missense IMPDH1 variant. CASE...

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Share to Cone-Rod Dystrophies
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to IMP Dehydrogenase

Share to Mutation, Missense

Share to Tomography, Optical Coherence

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Identifiers

PMID: 41691573
DOI: 10.1007/s10633-026-10084-z
PMCID: PMC13506598

Genes

IMPDH1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.