Table 4 of Millá, Mol Vis 2013; 19:1707-1722.
Family No. | Patient No. | Phenotype | Mutation 1 | Mutation 2 | Treatment and prognosis |
---|---|---|---|---|---|
ICO-3 | I:1 | Normal | p.Arg355fsX69 | - | *Molteno tube implantation and cyclodestruction and severe visual impairment in one eye and good response to goniotomies and medical treatment in the other: both twins |
I:2 | Normal | p.Arg355fsX69 | p.Glu229Lys | ||
II:1* | Severe PCG | p.Arg355fsX69 | p.Arg355fsX69 | ||
II:2 | Severe PCG | p.Arg355fsX69 | p.Arg355fsX69 | ||
ICO-12 | I:1 | Normal | - | p.Arg469Trp | *Molteno tube implantation in both eyes during childhood |
I:2 | Normal | p.Thr404fsX30 | - | ||
II:1* | Severe PCG | p.Thr404fsX30 | p.Arg469Trp | ||
II:2 | Normal | - | p.Arg469Trp | ||
ICO-18 | III:2* | POAG | p.Tyr81Asn | - | *Severe Pseudoexfoliative glaucoma requiring filtration surgery in both eyes |
III:5 | PEX | p.Tyr81Asn | - | ||
IV:1 | OHT | - | - | ||
IV:4 | Normal | p.Tyr81Asn | - | ||
ICO-19 | G-41* | Severe unilateral PCG | p.Gly61Glu | Not detected | Conventional filtering surgery/ Vision badly impaired to finger counting in RE/ good response to goniotomy with normal VA LE |
ICO-30 | I:1 | Normal | p.Arg355fsX69 | - | Bilateral tube implantation, severe phenotype in both eyes |
I:2 | Normal | - | p.Thr404fsX30 | ||
II:1 | Severe bilateral PCG | p.Arg355fsX69 | p.Thr404fsX30 | ||
ICO-39 | G-74* | JOAG | p.Arg368His | p.Thr404fsX30 | Severe phenotype that required filtering surgery (trabeculectomy) in both eyes |
ICO-47 | I:1 | Normal | - | 162-kb del(2p21.1) | *Goniotomy and tube implantation bilaterally, severe phenotype |
I:2 | Normal | - | - | ||
I:3 | Normal | p.Thr404fsX30 | - | ||
II:1 | Normal | - | 162-kb del(2p21.1) | ||
II:2 | Normal | p.Thr404fsX30 | - | ||
II:3 | Normal | - | - | ||
III:1* | Severe PCG | p.Thr404fsX30 | 162-kb del(2p21.1) | ||
ICO-64 | I:1 | POAG | - | - | *Mild phenotype under medical treatment |
I:2* | POAG | p.Tyr81Asn | - | ||
II:2 | Normal | - | - | ||
ICO-65 | I:1 | ARS | p.Ala443Gly | - | |
II:1 | ARS | - | - | ||
ICO-84 | III:1 | Normal | p.Glu229Lys | - | *Index patient with extremely severe phenotype in both eyes. One eye LP after repeated trabeculectomies and cyclodestruction and the other eye HM after trabeculectomy and tube implantation |
IV:1 | Normal | p.Glu229Lys | - | ||
IV:3 | Mild JOAG | p.Glu229Lys | p.Arg368His | ||
IV:4* | Severe PCG | - | p.Arg368His | ||
IV:5 | Severe PCG | p.Asp449fsX6 | p.Arg368His | ||
V:1 | Normal | - | - | ||
V:2 | Normal | - | - | ||
V:3 | Normal | - | - | ||
V:4 | Normal | - | p.Arg368His | ||
V:5 | Normal | - | p.Arg368His | ||
V:6 | Normal | p.Glu229Lys | - | ||
V:7 | Normal | - | p.Arg368His | ||
ICO-96 | G-166 | ARS | p.Glu229Lys | - |