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Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitfmi/+ Mice

Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitfmi/+ Mice

Title: Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitfmi/+ Mice
Author: Llorca, Andrea Garcia
Ólafsson, Knútur Haukstein
Sigurdsson, Arnór Thorri
Eysteinsson, Þór
Date: 2023-07-17
Language: English
Department: Faculty of Medicine
Surgical Services
Series: Genes; 14(7)
ISSN: 2073-4425
DOI: https://doi.org/10.3390/genes14071458
Subject: Augnlæknisfræði; c-wave; cone-rod dystrophy; ERG; fundus photography; inherited retinal disorders; Mitf; mouse models; retina; RPE; Genetics; Genetics (clinical)
URI: https://hdl.handle.net/20.500.11815/4427

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Llorca , A G , Ólafsson , K H , Sigurdsson , A T & Eysteinsson , Þ 2023 , ' Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitf mi/+ Mice ' , Genes , vol. 14 , no. 7 , 1458 . https://doi.org/10.3390/genes14071458


Mutations in the mouse microphthalmia-associated transcription factor (Mitf) gene affect retinal pigment epithelium (RPE) differentiation and development and can lead to hypopigmentation, microphthalmia, deafness, and blindness. For instance, an association has been established between loss-of-function mutations in the mouse Mitf gene and a variety of human retinal diseases, including Waardenburg type 2 and Tietz syndromes. Although there is evidence showing that mice with the homozygous Mitfmi mutation manifest microphthalmia and osteopetrosis, there are limited or no data on the effects of the heterozygous condition in the eye. Mitf mice can therefore be regarded as an important model system for the study of human disease. Thus, we characterized Mitfmi/+ mice at 1, 3, 12, and 18 months old in comparison with age-matched wild-type mice. The light- and dark-adapted electroretinogram (ERG) recordings showed progressive cone-rod dystrophy in Mitfmi/+ mice. The RPE response was reduced in the mutant in all age groups studied. Progressive loss of pigmentation was found in Mitfmi/+ mice. Histological retinal sections revealed evidence of retinal degeneration in Mitfmi/+ mice at older ages. For the first time, we report a mouse model of progressive cone-rod dystrophy and RPE dysfunction with a mutation in the Mitf gene.


Funding Information: A.G.-L. acknowledges financial support provided by a Postdoctoral Fellowship Grant from the Icelandic Research Fund (217796-052). T.E. acknowledges financial support from the Landspitali National Hospital Research Fund (986862). Publisher Copyright: © 2023 by the authors.

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