Glaucoma Genetics 1999

Glaucoma Genetics 1999

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 Gene