|
|
|
Gene
(MIM#) |
Chromosome
Location |
Disease |
|
|
|
CYP1B1
(601771) |
2p21 |
Primary
congenital glaucoma |
FBN1
/ fibrillin (134797) |
15q21 |
Ectopia
Lentis (simple) |
FKHL7
(601090) |
6p25 |
Primary
congenital glaucoma |
|
|
Axenfeld
anomaly |
|
|
Reiger
anomaly |
OCRL-1
(309000) |
Xq25 |
Lowe
syndrome |
LMX1B
(602575) |
9q34 |
Nail
patella syndrome |
Myocilin
(GLC1A/TIGR) (601652) |
1q23-25 |
Primary
open-angle glaucoma |
|
|
Juvenile
open-angle glaucoma |
NF1
/ neurofibromin (162200) |
17q11 |
Neurofibromatosis
I |
PAX6
(106210) |
11p13 |
Aniridia |
|
|
Peter's
anomaly |
PITX2
RIEG1 (601542) |
4q25 |
Reiger
syndrome |
|
|
Iris
hypoplasia |
PITX3
(602669) |
10q25 |
Anterior
segment mesenchymal |
|
|
dysgenesis |
Johnson AT, Alward WLM,
Sheffield VC, Stone EM.
Genetics and glaucoma. In: Ritch R, Shields MB,
and Krupin T, eds. The Glaucomas. St. Louis: CV
Mosby; 1996:39-54. |
