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Myopia 26, X-linked, female-limited(MYP26)

MedGen UID:
1618364
Concept ID:
C4538795
Disease or Syndrome
Synonyms: MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26
 
Gene (location): ARR3 (Xq13.1)
 
Monarch Initiative: MONDO:0049221
OMIM®: 301010

Definition

X-linked myopia-26 is characterized by female-limited early-onset high myopia. The fundus of affected individuals shows a tigroid appearance, and there is a temporal crescent of the optic nerve head (Xiao et al., 2016). For a discussion of genetic heterogeneity of myopia, see 160700. [from OMIM]

Clinical features

From HPO
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.

Recent clinical studies

Clinical prediction guides

Széll N, Fehér T, Maróti Z, Kalmár T, Latinovics D, Nagy I, Orosz ZZ, Janáky M, Facskó A, Sohajda Z
Orphanet J Rare Dis 2021 Jan 22;16(1):45. doi: 10.1186/s13023-021-01673-z. PMID: 33482870Free PMC Article

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