CLINICAL CASE OF ACHROMATOPSIA WITH MUTATION IN CNGB3 GENE, VERIFIED WITH MOLECULAR GENETIC METHODS

Objective: to describe a clinical case of achrtomatopsia with mutation in CNGB3 with molecular genetic verification of the diagnosis. Materials and methods. A patient with a rare here ditary retinal disease - achromatopsia was examined. Maximal electroretinogram, electroretinogram to 30 Hz flicker and macular electroretinogram were registered with electroretinograph MBN (Russia). Results. The patient was followed up for 10 with complaints on photophopsia, color vision disturbances and low visual acuity. Вest corrected visual acuity was 20/200OU. Severe color vision disturbance was revealed using Rabkin color vision plates. Severe photophobia, and amplitude pendel nystagmus was present. Nonrecordable 30 Hz flicker proved the lackofcone system function macular electroretinogram to red, green and blue stimulus was alsonon recordable which witnessed the lack of function of all cone types. Cone-rodresponse was of low norm value sandhad a configuration of scotopic electroretinogram, which showed the presence of rod components. Diagnosis «achrtomatopsia» was stated. It was verified after 10 year soffollow-up. Describe dear lierhet gerozy goes mutation in 10th ezone of CNGB3 gene (chr8:87656008AG>A, rs397515360), leading to the frame shift starting from 383 cod one (p.Thr383fs, NM_019098.4). Mutation was describes as compound heterozygote with mutation c.819_826delCAGACTCC (p.Pro273fs, NM_019098.4) in patients with сachtomatopsia, type3 (OMIM: 605080#0002). Conclusion. Etiopathogenetic approach in the diagnostics ofachromatopsia allows correct diagnosis, prevention and developing of new treatment methods considering ethiological factor (bibliography: 4 refs).

CNGB3, achromatopsia, CNGB3, electroretinogram