Glaucoma 3, primary congenital, A
| Disorder | |
|---|---|
| OMIM #: | #231300 (Click to access OMIM database) |
| Disorder: | Glaucoma 3, primary congenital, A |
| Also known as: | GLC3A GLAUCOMA, CONGENITAL (GLC3) BUPHTHALMOS |
| Clinical | |
| Phenotype: | Symptoms present within first year of life; tearing, photophobia, optic nerve cupping, buphthalmos, poor vision if untreated, ptosis, blepharophimosis, glaucoma, megalocornea |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| 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: | p.Arg355Hisfs*69 |
| Last updated: | 2023-02-01 |
| 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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