Page 142 - A Magyar Szemorvostársaság 2023. évi kongresszusa - Tudományos program és előadáskivonatok

or buccal mucosa sampling for diagnostic genotyping. Genetic testing was performed by next
generation sequencing using a Retinal Dystrophy panel.

Results: We found RHO gene variants in 16 patients from 10 families. In 15 cases (93.75%),
a missense variant with pathogenic clustering occurred in heterozygous form, whereas in 1
case (6.25%), a nonsense variant with pathogenic stop codon was found in homozygous form,
resulting in a specifically severe phenotype.

Conclusion: There are currently 233 RHO variants classified as "disease-causing" in the
genetic database (HGMD, version 2022.4). Of these, 79% are missense, 6% are frame-
shifting, 5% are nonsense, and 2% are splicing variants. In 93.75% of our RHO cases, we
detected missense nucleotide changes resulting in amino acid substitutions. No frame-shifting
or splicing variants occurred in our patient group.

In our presentation, we will describe the prognosis of the disease and the research aimed at
therapeutic developments.