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Glaucoma Genetics

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#)
   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)
   Pigmentary (600510) 7q35-36
   Nanopthalmos 11
   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

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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