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Wallace L. M. Alward, MD
Glaucoma Genetics Scorecard
The inheritance of diseases commonly associated with glaucoma
These tables list diseases that have glaucoma as a major feature and for which at least
one genetic locus has been identified.
There are many rare syndromes that have glaucoma as as minor component, and these are
not included in this list.
Table I. By Disease
| Disease
MIM (#) |
Chromosome
Location |
Gene
(MIM#) |
| OPEN-ANGLE
GLAUCOMAS |
| Primary |
|
Primary Open-Angle |
|
GLC1A (137750) |
1q23-25 |
GLC1A
/ myocilin (601652) |
|
GLC1B (137760) |
2cen-q13 |
|
|
GLC1C (601682) |
3q21-24 |
|
|
GLC1D |
8p23 |
|
|
GLC1E |
10p15-14 |
|
|
GLC1F |
7q35-36 |
|
|
Juvenile open-angle (137750) |
1q23-25 |
GLC1A
/ myocilin (601652) |
|
Normal tension |
10p15-14 |
|
| Associated
with syndrome |
|
|
|
Nail patella syndrome (161200) |
9q34 |
LMX1B
(602575) |
| Secondary |
|
|
|
Pigmentary (600510) |
7q35-36 |
|
|
18q11-21 |
|
| OPEN-ANGLE
GLAUCOMAS |
|
|
| Secondary |
|
|
|
Nanopthalmos |
11 |
|
| DEVELOPMENTAL |
|
|
| Primary |
|
|
|
Primary congenital |
|
|
|
GLC3A (231300) |
2p21 |
CYP1B1
(601771) |
|
GLC3B (600975) |
1p36 |
|
|
6p25 |
|
FKHL7
(601090) |
| Associated
with syndrome |
|
|
|
Aniridia (106210) |
11p13 |
PAX6
(106210) |
|
Anterior segment mesenchymal |
|
|
|
dysgenesis (107250) |
10q25 |
PITX3
(602669) |
|
Axenfeld-Rieger anomaly (601631) |
6p25 |
FKHL7
(601090) |
|
Ectopia Lentis (simple) (129600) |
15q21 |
FBN1
/ fibrillin (134797) |
|
Iridogoniodysgenesis (601631) |
6p25 |
|
|
Iris hypoplasia (137600) |
4q25 |
RIEG1
(PITX2) (601542) |
|
Lowe syndrome (309000) |
Xq25 |
OCRL-1
(309000) |
|
Marfan syndrome (154700) |
15q21 |
FBN1
/ fibrillin (134797) |
|
Neurofibromatosis I (162200) |
17q11 |
NF1
/ neurofibromin (162200) |
|
Peter's anomaly (106210) |
11p13 |
PAX6
(106210) |
|
Posterior polymorphous corneal |
|
|
|
dystrophy (122000) |
20q11 |
|
|
Reiger syndrome |
|
|
|
Type I (RIEG1) (180500) |
4q25 |
RIEG1
(PITX2) (601542) |
|
Type 2 (RIEG2) (601499) |
13q14 |
|
Table 2. By Genes
| 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. |
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