Amish, Mennonite, and Hutterite
Genetic Disorder Database

Glaucoma 3, primary congenital, A (GLC3A)

Disorder
OMIM #: #231300  (Click to access OMIM database)
Disorder: Glaucoma 3, primary congenital, A (GLC3A) 
Also known as: GLAUCOMA, CONGENITAL (GLC3)
BUPHTHALMOS 
Clinical
Phenotype: Symptoms present within first year of life; tearing, photophobia, optic nerve cupping, buphthalmos, poor vision if untreated, ptosis of eyelid or blepharophimosis, glaucoma, large cornea 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: CYP1B1
Base Change: G>A, at nucleotide 1159
Amino Acid Change: glu 387 --> lys
2   Amish  
Gene: CYP1B1
Base Change: c.1064_1076del13
Amino Acid Change: Frame shift
Last updated: 2018-04-19 

References
Martin SN, Sutherland J, Levin A, Klose R, Priston M, Heon E. (2000) Molecular characterization of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness. J Med Genet 37: 422-427.
PubMed ID: 10851252 

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