Stargardt disease-associated mutation spectrum of a Russian Federation cohort.

ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients from 10 ethnic groups.

[Ocular blood flow and retinal electrogenesis in retinitis pigmentosa].

Aim: to investigate correlations between changes in ocular hemodynamics revealed by color Doppler flow mapping (CDFM) and pulsed-wave (PW) Doppler imaging, one the one hand, and electrical activity of the retina, on the other, in patients with early, moderate, and severe retinitis pigmentosa (RP).

Material And Methods: A total of 20 patients (40 eyes) aged from 16 to 40 years (28.4 ± 8.