Case | Gender | Sequence change allele 1/allele 2 | Predicted effect | Exon | Ethnic background | Consanguinity | Age at diagnosis | Age at onset | Therapy, started at age | IOP at diagnosis (mmHg) RE/LE | Visual acuity RE/LE |
---|---|---|---|---|---|---|---|---|---|---|---|
*HM = hand movement; LP =light perception. †By PL + TAC procedure; M, pilocarpine + azetazolamide, CPC: cyclophotocoagulation, TET: trabeculectomy, T: trabeculotomy, ND: the compound mutation could not be determined. Sequence data refer to Genbank entry HSU56438 and the sequence given by Sutter et al15 and Stoilov et al.5 | |||||||||||
1 | F | c.1436G-A Homozygous | V364M Homozygous | 3 | Indonesian-Sundanese | Yes | 19 y | <3 y | M, 19 y | High/30–40 | HM/LP* |
2 | M | c.1436G-A Homozygous | V364M Homozygous | 3 | Indonesian-Sundanese | Yes | 15 y | <3 y | M, 15 y | High/30–40 | LP/LP* |
3 | M | c.1436G-A Homozygous | V364M Homozygous | 3 | Indonesian-Sundanese | Yes | 15 y | <3 y | M, 15 y | High/30–40 | LP/LP* |
4 | M | c.1436G-A/ND | V364M Homozygous | 3 | Indonesian-Sundanese | No | 16 y | <3 y | M, 16 y | High/30–40 | LP/LP* |
5 | F | c.1189G-T/ 1407del12bp | E281X/del355RVGA | 2/3 | Turkish | No | 3 mth | Congenital | TET, 3 mth | 25/25 | 1,0/1,0 |
CPC, 11 mth | |||||||||||
CPC, 3 y | |||||||||||
6 | F | c.1410del13bp/ND | Frameshift/ND | 3 | Italian | No | 2 mth | 4 d | T, 9 mth | 17/20 | 1,6/2,4 cyc/degree† |
7 | M | c.992G-T/ND | S215I/ND | 2 | Indonesian-Sundanese | No | 24 y | <3 y | M, 24 y | High/30–40 | LP/LP* |