TABLE 3.
The genotype and phenotype of ARS patients without FOXC1 or PITX2 mutations.
| No./Sex/Diagnosis age | Family history a | Ocular manifestation | Systemic manifestation |
|---|---|---|---|
| 36/F/3m | No | IH, corectopia, GL | — |
| 37/M/10m | No | Iridocorneal adhesions, severe IH, GL, corneal opacification | DA; CA; UA |
| 38/F/4y | No | PE, iridocorneal adhesions, IH, corectopia, GL, nystagmus, corneal decompensation (OD), amblyopia | DA, hearing loss |
| 39/M/6y | Yes | Severe IH, corectopia, polycoria, GL | DA |
| 40/M/8y | Yes | Iridocorneal adhesions, IH, GL, myopia | DA; UA |
| 41/M/10y | No | IH, corectopia, GL, corneal opacification | DA; CA |
| 42/F/10y | Yes | Iridocorneal adhesions, severe IH, irregular pupil, GL, corneal opacification, cataract | DA |
| 43/F/11y | No | PE, iridocorneal adhesions, GL | — |
| 44/M/14y | No | PE, iridocorneal adhesions, IH, GL, cataract | DA; CA; hearing loss; GD |
| 45/M/14y | No | PE, iridocorneal adhesions, corectopia, irregular pupil, GL, myopia, exotropia | DA |
| 46/M/16y | No | Iridocorneal adhesions, corectopia, GL, cataract, high myopia | — |
| 47/M/18y | No | Iridocorneal adhesions, IH, GL, myopia | DA; CA |
| 48/M/23y | No | Iridocorneal adhesions, IH, irregular pupil, GL, high myopia | DA |
| 49/F/24y | Yes | PE, iridocorneal adhesions, GL | DA |
| 50/M/32y | No | PE, iridocorneal adhesions, IH, GL | DA |
| 51/M/34y | No | PE, iridocorneal adhesions, IH, GL | CA; depressive disorder |
| 52/F/36y | Yes | Iridocorneal adhesions, IH, corectopia, polycoria, GL | DA |
| 53/M/36y | Yes | PE, iridocorneal adhesions, IH, GL | — |
| 54/F/41y | Yes | PE, iridocorneal adhesions, IH, polycoria, GL, corneal opacification | DA, depressive disorder |
| 55/M/46y | Yes | Iridocorneal adhesions, IH, corectopia, polycoria, GL, cataract, high myopia, retinal detachment | DA |
a
Note: Family history refers to first-degree relatives having glaucoma or ARS.
Abbreviations: CA, Craniofacial abnormalities; DA, Dental abnormalities; F, Female; GD, Growth disorder; GL, Glaucoma; IH, Iris hypoplasia; M, Male; OD, Right eye; OS, Left eye; PE, Posterior embryotoxon; UA, Umbilical anomalies.