Table 1.
Features of glaucoma syndromes.
| Syndrome | Known Genes (Inheritance Pattern) | Ocular Features | Systemic Features |
|---|---|---|---|
| Anterior segment dysgenesis (including Axenfeld–Rieger syndrome) |
PITX2 (AD) FOXC1 (AD) CPAMD8 (AR) |
Posterior embyotoxon, corectopia, iris hypoplasia, polycoria, dysplastic angle structures, glaucoma CPAMD8 with also iridodonesis, ectopia lentis, ectropion uvea |
Axenfeld–Rieger syndrome: dental hypoplasia, flat mid-face, umbilical abnormalities, pituitary abnormalities, cardiac defects, sensorineural hearing loss, myotonic dystrophy |
| Peters Anomaly | PITX2 (AD) FOXC1 (AD) PAX6 (AD) CYP1B1 (AD/AR) B3GALTL (AR) |
Central corneal opacities, iris synechiae, absence of corneal endothelium, absence of descemet membrane, glaucoma | Peters Plus syndrome: short stature, abnormal ears, brachyomorphism |
| Aniridia |
PAX6 (AD/AR) ITPR1 (AD/AR) FOXC1 (AD) PITX2 (AD) |
Iris hypoplasia (total or partial), limbal stem cell deficiency, keratopathy, cataracts, foveal hypoplasia, optic nerve hypoplasia, nystagmus, glaucoma | WAGR syndrome: Wilms tumor, genitourinary abnormalities, mental retardation Gillespie syndrome: Cerebellar ataxia, intellectual disability |
| Stickler Syndrome |
COL2A1 (AD) COL11A1 (AD) COL9A1 (AR) COL9A2 (AR) |
Myopia, cataracts, retinal detachments, elongated ciliary processes, glaucoma | Midface hypoplasia, cleft palate, glossoptosis, sensorineural hearing loss, short stature, arthropathy |
| Osteogenesis Imperfecta |
COL1A1 (AD) COL1A2 (AD) IFITM5 (AD) |
Corneal thinning, scleral thinning (blue sclera), low ocular rigidity short axial length, retinal detachment, glaucoma | Bone fragility, low bone mineral density skeletal deformities, dentinogenesis imperfecta, hyperlaxity of ligaments, cardiovascular disease, hearing loss |
| COL4A1-associated connective tissue disorder | COL4A1 (AD) | Anterior segment dysgenesis similar to Axenfeld–Rieger syndrome | Cerebrovascular abnormalities, leukoencephalopathy, cardiac abnormalities, renal abnormalities, muscular abnormalities |
| TEK/ANGPT1—glaucoma |
TEK (AD) ANGPT1 (AD) |
Primary congenital glaucoma | None |
| Aicardi–Goutieres Syndrome |
TREX1 (AR)
RNASEH2A (AR) RNASEH2B (AR) RNASEH2C (AR) SAMHD1 (AR) ADAR (AR) IFIH1 (AD) |
Congenital glaucoma, optic atrophy, cortical blindness | Encephalopathy, microcephaly leukodystrophy, cerebral atrophy, intracranial calcifications, hepatosplenomegaly, thrombocytopenia, lupus-like syndrome |
| Singleton–Merten Syndrome |
DDX58 (AD)
IFIH1 (AD) |
Congenital or juvenile open-angle glaucoma Ocular surface disease |
Psoriasiform rash, vascular calcifications skeletal dysplasia, tendon rupture, arthritis, dental anomalies |
| Nanophthalmos |
MFRP (AR)
PRSS56 (AR) BEST1 (AR) TMEM98 (AD) CRB1 (AR) MYRF (AD) FAM111A (AR) |
Axial hyperopia, esotropia, foveal hypoplasia, optic disc drusen, retinoschisis/foveoschisis, retinitis pigmentosa, chorioretinal folds, central retinal vein occlusions, angle closure glaucoma | Cardiac-urogenital syndrome (CUGS): Diaphragmatic hernia, cardiopulmonary vascular anomalies (i.e., Scimitar syndrome), pulmonary hypoplasia, urogenital anomalies Kenny-Caffey syndrome: skeletal dysplasia, short stature, hypocalcemia, microorchidism |
AD: autosomal dominant; AR: autosomal recessive.