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Multiple Retinal Anomalies in Wfs1-Deficient Mice
Arleta Waszczykowska1, Agnieszka Zmysłowska2, Marcin Braun3
1Department of Ophthalmology and Vision Rehabilitation, Medical University of Łódź, Żeromskiego 113 Street, 90-549 Łódź, Poland.
Diagnostics (Basel, Switzerland)
|August 23, 2020
Summary
Wolfram syndrome 1 gene knockout mice exhibit reduced retinal thickness and optic nerve degeneration, mirroring human WFS symptoms. Further research is needed to understand the observed proliferative retinopathy in these mice.
Area of Science:
- Ophthalmology
- Genetics
- Neuroscience
Background:
- Wolfram syndrome (WFS) is a rare autosomal recessive disorder.
- WFS is characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness.
- Retinal thickness decreases with WFS progression.
Purpose of the Study:
- Investigate retinal thickness and wolframin expression in Wolfram syndrome 1 gene knockout (Wfs1KO) mice.
- Compare Wfs1KO mice to wild-type (WT) littermates.
Main Methods:
- Histopathological examination of optic nerve and retinal tissues from Wfs1KO and Wfs1WT mice.
- Utilized a Wfs1KO mouse model with a mutation in exon 8.
Main Results:
- Absence of wolframin protein expression in Wfs1KO retinas.
- Observed optic nerve neurodegeneration in Wfs1KO mice.
- Wfs1KO mice showed reduced mean central retinal thickness and a lower retinal thickness/longitudinal diameter ratio.
- Intra-retinal neovascularization was present in 67% of Wfs1KO mouse eyeballs.
Conclusions:
- Wfs1KO mice with an exon 8 mutation display WFS-like features, including reduced retinal thickness and optic nerve degeneration.
- The proliferative retinopathy observed in Wfs1KO mice warrants further investigation.
