Table 1.
Clinical Features Found with Mutations in a Selection of Anophthalmia/Microphthalmia Genes
| SOX2 | OTX2 | PAX6 | RAX | BMP4 | SMOC1 | GDF6 | |
|---|---|---|---|---|---|---|---|
| Ocular findings | |||||||
| A/Ma | +; 58/71; 82% | +; 29/37; 78% | +; IUb | +; IU | +; 3/8; 37.5% | +; 32/35; 91% | +/−; 0.8–8% |
| Coloboma | +; IU | +; IU | +; IU | +; IU | +; 1/8; 12.5% | +; IU | +/−; IU |
| ASDc | +; IU | +; 4/37; 11% | +; IU | +; IU | +; 4/8; 50% | ||
| Aniridia | +++; IU | ||||||
| Cataracts | +; rare | +; rare | +; IU | ||||
| Congenital glaucoma | +; IU | +; 2/8; 25% | |||||
| Retinal dystrophy | +; IU | +; IU | +; IU | +; 1/8; 12.5% | |||
| Optic nerve atrophy/hypoplasia/dysplasia | +; IU | +; 13/37; 35% | +; 10% | +; ? | +; IU | +; IU | |
|
| |||||||
| CNSd – Structural defects | +; 29/62; 47% | +; 7/37; 19% | |||||
| Heterotopias | +; IU | ||||||
| ACCe/hypoplasia corpus callosum | +; IU | +; 2/14; 14% | +; 1/8; 12.5% | ||||
| Mesial temporal malformation | +; IU | +; rare | |||||
| Abnormal white matter | +; IU | ||||||
| Arnold-Chiari malformation | +; IU | ||||||
| Anterior commissure defect | +; 12/24; 50% | ||||||
| Olfactory bulb hypoplasia | +; IU | ||||||
| Absent pineal gland | +; 13/24; 54% | ||||||
| Hydrocephalus/ventricular dilatation | +; IU | +; ? | +; 3/8; 37.5% | +; IU | |||
|
| |||||||
| CNS | |||||||
| Developmental differences | +; 17/37; 46% | +; rare | +; 4/8; 50% | +; 13/35; 37% | |||
| - global delays | +; 28/47; 60% | ||||||
| - motor delays | +; 7/47; 15% | ||||||
| Seizures | +; 11/62; 18% | +; 4/37; 11% | +; IU | ||||
| Hypotonia | +; 2/37; 5% | +; 2/8; 25% | |||||
|
| |||||||
| Endocrine | +; 8/62; 13% | ||||||
| Pituitary gland/Hypopituitarism | +; IU | +; 19–30% | +; IU | ||||
|
| |||||||
| Growth retardation | +; 7/62; 11% | +; 12/37; 32% | +; 4/9; 44% | ||||
| Microcephaly | +; 7/37; 19% | ||||||
| Feeding difficulties | +; 5/37; 14% | ||||||
|
| |||||||
| Dysmorphic findings | +; IU | +; IU | +; 6/9; 66% | ||||
|
| |||||||
| Cardiac defects | +; 2/62; 3% | ||||||
|
| |||||||
| Genitourinary tract malformations | +; 22/62; 35% | +; IU | +; IU | +; IU | |||
|
| |||||||
| Other | |||||||
| Tracheo-esophageal fistula | +; 15/62; 24% | ||||||
| Vertebral/rib malformations | +; 1/62; 2% | +; IU | |||||
| Hearing loss | +; 4/62; 6% | +; IU | |||||
| Cleft lip/palate | +; 2/21; 10% | +; 1/8; 12/5% | +; 4/35; 11% | +; IU | |||
| Polydactyly/syndactyly | +; 3/8; 37.5% | +; 20/35; 57% | +; IU | ||||
| Oligodactyly | +; 29/35; 83% | ||||||
References: SOX2 = [6]; OTX2 = [26] and [27]; PAX6 = [99], [100] and [101]; RAX = [88], [89] and [90]; BMP4 = [69]; SMOC1 = [74] and [76]; GDF6 = [86], [87], [88] and [90]. A/Ma = anophthalmia/microphthalmia; IUb = incidence unknown; ASDc = Anterior Segment Dysgenesis; CNSd = Central Nervous System; ACCe = agenesis of corpus callosum.