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

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 by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the d...

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Bibliographic Details
Main Authors: Noémi Széll, Tamás Fehér, Zoltán Maróti, Tibor Kalmár, Dóra Latinovics, István Nagy, Zsuzsanna Z. Orosz, Márta Janáky, Andrea Facskó, Zoltán Sohajda
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Early onset high myopia
X-linked female-limited high myopia
Intrinsically photosensitive retinal ganglion cell
Monogenic disorder
Mendelian inheritance
X-arrestin
Online Access:https://doi.org/10.1186/s13023-021-01673-z

Internet

https://doi.org/10.1186/s13023-021-01673-z

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