Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant
The IMPDH1 p.Thr244Pro variant was associated with preserved central retina structure and function with stable peripheral dysfunction in the fourth decade of life, suggesting a relatively stationary disease course that starkly contrasts the rapid progression of retinal dystrophies caused by other IMPDH1 variants.
Authors
- Eszter Jávorszky (ORCID: https://orcid.org/0000-0002-7834-8854)
- Miklós Resch
- Carlo Rivolta
- Mirella Barboni
- Zoltán Zsolt Nagy
- Kálmán Tory
- Viktória Szabó
Institutions
- Semmelweis University (HU)
- University of Basel (CH)
- Institute of Molecular and Clinical Ophthalmology Basel (CH)
Publication Details
- Journal
- Documenta Ophthalmologica
- Published
- 2026-02-15
- DOI
- https://doi.org/10.1007/s10633-026-10084-z
- Primary Topic
- Biochemical and Molecular Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00