Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study

Fehér, Tamás and Széll, Noémi and Nagy, István and Maróti, Zoltán and Kalmár, Tibor and Sohajda, Zoltán and Telles Salgueiro Barboni, Mirella (2024) Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study. ORPHANET JOURNAL OF RARE DISEASES, 19 (1). ISSN 1750-1172

Preview

Text FeherT_Conedysfunction.pdf Available under License Creative Commons Attribution. Download (2MB) | Preview

Abstract

Myopia-26, a Mendelian form of early-onset high-myopia (eoHM) caused by mutations in the X-chromosomal ARR3 gene and predominantly affecting females, curiously, may provide an alternative route of investigation to unveil retinal mechanisms underlying pathological eye growth. We conducted a case-control cross-sectional prospective electrophysiological study in genetically characterized Myopia-26 patients (ARR3 heterozygous symptomatic females) compared with high myopes harboring intact ARR3 alleles and one carrier hemizygous male.

Actions (login required)

Edit Item