Page 154 - A Magyar Szemorvostársaság 2023. évi kongresszusa - Tudományos program és előadáskivonatok

1.0/0.2. The small drusenoid deposits seen with biomicroscope at the posterior pole,
peripapillary area and along the vascular arcades resembled basal deposits in advanced age-
related macular degeneration. With B-scan ultrasound examination the posterior wall of the
left eye had an irregular surface with calcificated parts. Differential diagnostically, the likelihood
of malignant lesions was excluded based on the ultrasound examination, whereas age-related
macular degeneration was unlikely due to the patients' age.

At the Genetic Outpatient Clinic of the Department pretest genetic counseling and genetic
examination were performed with new generation (NGS) Retinal Dystrophy Panel. With the
sequence analysis a missense variant (c.1033 C>T, p.Arg345Trp, rs121434491) of the 10th
exon was identified in the presented case, which based on currently available evidence, was
the only pathogenic variant of the EFEMP1 gene causing macular dystrophy. An additional 5
variants is of uncertain significance according to databases (ClinVar Miner, HGMD, LOVD).
The protein product of the wild type EFEMP1 gene is a secreted protein, fibulin 3, whereas the
mutant protein is misfolded, secreted inefficiently and retained in cells (PMID: 12242346).

During the paper the phenotype of EFEMP1 macular dystrophy, differential diagnostic aspects,
prognosis and recommended follow-up of the disease will be presented.