A5057693257- Retinal Development and Disorders
- Photoreceptor and optogenetics research
- Connexins and lens biology
- Glaucoma and retinal disorders
- CRISPR and Genetic Engineering
Intersectoral Research and Technology Complex Eye Microsurgery
2021-2023
The article presents recent worldwide achievements in the area of diagnosis and treatment inherited retinal degenerations (IRDs) from standpoint ophthalmic genetics. Clinical studies conducted patients with Leber congenital amaurosis retinitis pigmentosa caused by biallelic mutations RPE65 gene have provided basis for future genes associated IRDs. highlight importance fundamental understanding function gene, timely study natural history disease. Currently, surgical techniques are being...
Achromatopsia is a congenital autosomal recessive disorder characterized by decreased or absent cone’s function. Clinical symptoms include photophobia, nystagmus, low best corrected visual acuity, complete incomplete color vision. Mutations in the CNGA3 and CNGB3 genes are responsible for approximately 70–80 % of all achromatopsia cases. The purpose: to evaluate results comprehensive clinical genetic examinations four patients with an established diagnosis achromatopsia. Onset disease was...