Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 21-09-2015

Symbol	MSPKA
Location	14q24.3
Name	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Corresponding gene	LTBP2
Main clinical features	smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes congenital megalocornea with childhood secondary glaucoma from spherophakia and/or ectopia lentis
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)