|
| Isolated |
|
| Microphthalmia |
| Colobomatous |
| Isolated uveoretinal coloboma |
| Microphthalmia with cyst |
| Non-colobomatous |
|
| Microphthalmia with Ocular Anomalies |
|
| Cataract |
| Myopia and corectopia |
| Ectopia lentis |
| congenital retinal detachment |
| Persistent Hyperplastic Primary Vitreous |
|
| Aicardi syndrome |
|
| Microphthalmia with Mental Retardation |
|
| Mental retardation |
| Mental retardation and congenital spastic diplegia (Sjogren-Larsson) |
|
| Microphthalmia with Craniofacial Malformations |
|
| Facio-Auriculo-Vertebral sequence |
| Hallermann-Streiff syndrome |
| Amniotic band syndrome |
| Transverse facial cleft |
| Cleft lip/palate |
| Microcephaly |
| Microcephaly and retinal folds |
| Hydrocephalus and congenital retinal non-attachment (Warburg syndrome) |
|
| Microphthalmia with Malformations of the Hands and Feet |
|
| Polydactyly |
| Waardenburg’s recessive anophthalmia syndrome |
|
| Microphthalmia with Multiple Congenital Anomalies (Syndromes) |
|
| CHARGE association |
| Duker syndrome |
| Lenz microphthalmia syndrome |
| Oculo-Dento-Osseous Dysplasia |
| Cryptophthalmos syndrome |
| Cerebro-Oculo-Facial Syndrome |
| Goltz syndrome or focal dermal hypoplasia |
| Lowe syndrome |
| Meckel-Gruber syndrome |
| Basal cell nevus syndrome of Gorlin-Goltz |
| Cross syndrome |
| Microphthalmia with linear skin defects |
|
| Microphthalmia in Chromosomal Anomalies |
|
| T-13 (Patau) |
| 4p- (Wolf-Hirschorn) |
| 18q- |
| 18r |
| T-18 (Edward) |
| Cat-eye syndrome (marker 22) |
| Other chromosomal aberrations |
|
| Microphthalmia and Intrauterine Insults |
|
| Maternal drug intake: thalidomide, alcohol, isotretinoin, others |
| Maternal vitamin A deficiency |
| Maternal fever or radiation exposure |
| Maternal uncontrolled phenylketonuria |
| Intrauterine infections: CMV, EBV, Varicella, Herpes simplex, |
| Rubella, Toxoplasmosis |
|
