Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

Abstract Background Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially the middle ages. Despite X-linked locus of mutated ARR3 gene, disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this has only been observed Asian families not gone through detailed investigation concerning collateral symptoms or pathogenesis. Results We found large Hungarian family displaying female-limited myopia. Whole exome sequencing two individuals identified novel nonsense mutation (c.214C>T, p.Arg72*) gene. carried out basic ophthalmological testing for 18 members, as well examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) colour vision- electrophysiology tests (standard multifocal electroretinography, pattern electroretinography evoked potentials) eight individuals. Ophthalmological examinations did reveal any signs cone dystrophy opposed animal models. Electrophysiology vision similarly evidence general system alteration, rather central macular dysfunction affecting both inner outer (postreceptoral receptoral) retinal structures all patients mutation. Conclusions This first description Caucasian Myopia-26. present hypotheses that could explain pathomechanism disease.