Abstract:Purpose The aim of the study was to describe the clinical and genetic correlation of a c.469 G>A p.(Asp157Asn) heterozygous pathogenic variant in PRPH2 in two siblings of Italian
origin.
Patients and Methods Both patients underwent ophthalmic examination, electrophysiological testing, autofluorescence imaging, and optical coherence tomography (OCT). Screening for
pathogenic variants of the obtained DNA from the family members was carried out.
Results The 52-year-old (… Show more
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