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Assessment of retinal structure and function in Ames waltzer mice
Sherry L Ball1, David Bardenstein, Kumar N Alagramam
1Research Service, Cleveland VA Medical Center, Cleveland, Ohio, USA.
Investigative Ophthalmology & Visual Science
|August 27, 2003
Summary
Ames waltzer mice, models for Usher Syndrome type 1F (USH1F), show no retinal abnormalities despite protocadherin 15 presence. This finding aids understanding USH1F retinopathy and treatment development.
Area of Science:
- Ophthalmology
- Genetics
- Neuroscience
Background:
- Mutations in protocadherin 15 (Pcdh15) cause Usher Syndrome type 1F (USH1F) in humans, characterized by congenital hearing loss and later-onset visual impairment.
- Ames waltzer mice, carrying Pcdh15 mutations, are investigated as potential models for USH1F-related retinopathy.
Purpose of the Study:
- To evaluate retinal structure and function in Ames waltzer mice with different Pcdh15 alleles.
- To determine the suitability of Ames waltzer mice as a model for USH1F retinopathy.
Main Methods:
- Electroretinograms (ERGs) were used to assess rod and cone pathway activity under dark- and light-adapted conditions.
- Retinal morphology was examined using histochemical procedures, and Pcdh15 expression was analyzed via RT-PCR at various postnatal ages.
Main Results:
- Ames waltzer mutant mice exhibited comparable ERG amplitudes and implicit times to heterozygous littermates up to 13 months of age.
- No retinal degeneration, disorganization, or significant differences in retinal layer thickness were observed between mutant and wild-type mice.
- Pcdh15 expression was detected in the neural retina from postnatal day 0 to 70.
Conclusions:
- Despite the presence of Pcdh15 in the neural retina, its specific role in the absence of retinal abnormalities in Ames waltzer mice remains undetermined.
- The lack of a retinal phenotype in these Pcdh15 mutant mice provides valuable insights for understanding USH1F pathophysiology and developing therapeutic strategies.