Page 144 - A Magyar Szemorvostársaság 2023. évi kongresszusa - Tudományos program és előadáskivonatok

identified the same heterozygous variant, c.305A>G, leading to amino acid change in the
GUCA1A gene in three families, and c.332A>T in the fourth one.

Imaging and electrophysiological characteristics showed cone dystrophy in three patients from
independent families from the southwestern part of Hungary. The identified genetic variants in
GUCA1A, a gene known to be disease-causing in autosomal dominant cone/cone-rod
dystrophy were not previously described and are absent in the major reference population
databases. Based on ACMG classification and in silico tools, they are regarded as likely
pathogenic variants. Segregation analysis in other family members confirms the pathogenicity
of the variants, causing autosomal dominant cone dystrophy.