Publications by authors named "Sonia M Weatherly"
Mutations in the apicobasal polarity gene CRB1 lead to diverse retinal diseases, such as Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa (with and without Coats-like vasculopathy), foveal retinoschisis, macular dystrophy, and pigmented paravenous chorioretinal atrophy. Limited correlation between disease phenotypes and CRB1 alleles, and evidence that patients sharing the same alleles often present with different disease features, suggest that genetic modifiers contribute to clinical variation. Similarly, the retinal phenotype of mice bearing the Crb1 retinal degeneration 8 (rd8) allele varies with genetic background.
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- The study investigates fluid and solute transporters in the retinal pigment epithelium (RPE), crucial for maintaining retinal health, and identifies defects in mice that show central retinal hypopigmented patches.
- Researchers found a mutation in the sodium bicarbonate cotransporter gene SLC4A5, which was significantly reduced in expression in the RPE and associated with various retinal abnormalities, including detachment and neovascular lesions.
- Through various imaging techniques and electroretinography (ERG), the study shows that age-related deterioration in retinal structure and function correlates with SLC4A5's role in the outer blood-retinal barrier, impacting fluid regulation and light response.