Authors
Laura M Ford, Kelian Sun, Laurence M Occelli, Mary E Enfield, Anahita Daruwalla, Ryan F Boyd, Philip D Kiser, Simon M Petersen-Jones
Published in
Investigative ophthalmology & visual science. Volume 67. Issue 12. Pages 45. Oct 01, 2026.
Abstract
Retinol dehydrogenase 5 (RDH5) catalyzes the final oxidation for visual pigment regeneration of 11-cis-retinal as part of the visual cycle in the retinal pigment epithelium (RPE). In humans, RDH5 mutations cause fundus albipunctatus characterized by night blindness, accumulation of white-yellowish fundus spots, and, in a subset of patients, macular degeneration. Currently, there is an unmet need for therapies for patients with RDH5 mutations. Using a large-animal cat model of RDH5-associated disease (RDH5-/-), this study aimed to meet these needs through development of a gene augmentation therapy able to rescue RDH5-associated retinopathies.
An adeno-associated virus serotype 2 with triple capsid mutations vector packaged with feline RDH5 cDNA (AAV-VMD2-fRDH5) was subretinally injected into 12 RDH5-/- cats. To assess expression and the impact of treatment on retinal function and structure, immunohistochemistry, high-performance liquid chromatography, rod and cone electroretinograms, spectral-domain optical coherence tomography, and semi-thin resin-embedded sectioning were performed.
The expression of the RDH5 transgene improved rod and cone photoreceptor functional recovery following light exposure and shows promise in slowing/halting area centralis (analogous to the human macula) degeneration.
This gene augmentation therapy is a promising approach for the treatment of RDH5-associated retinopathies.
PMID:
42904881
Bibliographic data and abstract were imported from PubMed on 23 Oct 2026.
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