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Article

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

Orphanet journal of rare diseases - 22 Jan 2021

Széll Noémi, Fehér Tamás, Maróti Zoltán, Kalmár Tibor, Latinovics Dóra, Nagy István, Orosz Zsuzsanna Z, Janáky Márta, Facskó Andrea, Sohajda Zoltán

Abstract excerpt

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 by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been...

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Identifiers

PMID: 33482870
DOI: 10.1186/s13023-021-01673-z
PMCID: PMC7825233

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