Table 1.
Genetic and clinical features of the families carrying postzygotic PAX6 variants.
| Family ID | Causing variant | Patient ID | Age | Genotype (mosaic AF) | Iris anomaly | Microphthalmia | Nystagmus | Congenital or early-onset cataracts | Glaucoma | Keratopathy | Other features |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | c.771G>A p.(Trp257∗) | I:1 (father) | 50 | Mosaic (18%, blood) | Complete aniridia (B) | + (B) | + (B) | + (B) | Cataract surgery | ||
| II:1 | 29 | HET | Complete aniridia (B) | + (B) | +(B) | + (B) | Limbal insufficiency (B) | Growth retardation: cataract surgery; amaurosis (RE) | |||
| 2 | c.120C>A p.(Cys40∗) | I:1 (father) | 59 | Mosaic (13%, blood, saliva, and urine; 29%, sperm) | Coloboma (B) | + (B) | |||||
| II:2 | 25 | HET | Complete aniridia (B) | + (B) | + (B) | + (B) | Corneal opacity with limbal insufficiency (B) | Surgical interventions for limbal transplantation and implantation of Ahmed glaucoma valve (RE); BCVA: FC/0.05. | |||
| 3 | c.178T>C p.(Tyr60His) | I:1 (father) | 80 | Mosaic (18%, blood; 29%, saliva) | Asymptomatic; no ocular features | ||||||
| II:1 | 43 | HET | + (B) | +(B) | + (B) | High hyperopia; secondary corectopia after iridectomy. | |||||
| II:2 | 38 | HET | + (B) | + (B) | + (B) | High hyperopia; secondary corectopia after iridectomy. | |||||
| III:1 | 10 | HET | + (B) | + (B) | + (B) | High hyperopia; secondary corectopia after iridectomy. | |||||
Nucleotide numbering reflects cDNA in the reference sequence NM_000280.4 for PAX6. AF, allele fraction; B, bilateral; BCVA, best corrected visual acuity; FC, finger counting; HET, heterozygous; ID, identification; and RE, right eye.