Details of Disease

General Information of Disease (ID: DISW4Q6R)

Disease Name Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Synonyms megalocornea-spherophakia-secondary glaucoma syndrome
Definition
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.
Disease Hierarchy
DISJYSR1: Hereditary glaucoma
DISPDYFL: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
DISW4Q6R: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Disease Identifiers
MONDO ID
MONDO_0016559
UMLS CUI
C5190883
MedGen ID
1674483
Orphanet ID
238763
SNOMED CT ID
783246000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LTBP2 OTS88GSD Supportive Autosomal recessive [1]
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References

1 LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet. 2010 Jul;18(7):761-7. doi: 10.1038/ejhg.2010.11. Epub 2010 Feb 24.