Table 1 of
Rashid, Mol Vis 2019; 25:144-154. Table 1 of
Rashid, Mol Vis 2019; 25:144-154.
Table 1. Clinical details of the families segregating CYP1B1 variants.
| Family ID | Participant IDs | Age (Yrs) | Variant | IOP (mmHg) OS/OD | Visual Acuity OS/OD | Surgical procedure | Medicine used for IOP | Remarks |
|---|---|---|---|---|---|---|---|---|
| PKED01 | IV 6 | 7 | c.542T>A | 14/14 | NA | Trabeculectomy | Yes | Cornea clear, well-formed bleb |
| IV 12 | 6 | p.(Leu181Gln) | NA | NA | Trabeculectomy | Yes | OS/OD CD= 0.9 | |
| IV 15 | 13 | 22/20 | NA | Trabeculectomy | Yes | NA | ||
| IV 18 | 1 | 17/17 | NA | Trabeculectomy | Yes | NA | ||
| GCFGL02 | III:1 | 4 | c.868dupC | 25/53 | PL:NPL | Corneal scraping | Yes | Bilateral corneal haze |
| p.(Arg290Profs*37) | Trabeculectomy | Enlarged anterior segment | ||||||
| III:2 | 7 | 18/29 | PL:NPL | Corneal scraping | yes | Bilateral corneal haze | ||
| Trabeculectomy | Enlarged anterior segment | |||||||
| GCUF22 | IV:2 | 5 | c.1168C>T | 33/30 | NPL: NPL | No | No | Severe corneal haze |
| p.(Arg390Cys) | Habb’s striae | |||||||
| IV:3 | 3 | 29/21 | NPL: NPL | OS: Trabeculectomy | No | Deep anterior segment bilateral | ||
| OD: No | ||||||||
| LUCC20 | IV:5 | 30 | c.1169G>A | NR/15 | NPL: NPL | Trabeculectomy | No | Bilateral corneal haze |
| IV:6 | 24 | p.(Arg390His) | 32/28 | NR: NR | Trabeculectomy | Yes | Bilateral corneal haze | |
| LUPCG04 | V:2 | 17 | c.1169G>A | 30/NR | NPL: NPL | Trabeculectomy | Yes | Bilateral corneal haze |
| p.(Arg390His) | ||||||||
| V:5 | 34 | NR/NR | NPL: NPL | No | No | Bilateral corneal haze | ||
| LUPCG16 | V:5 | 13 | c.1169G>A | 40/35 | NPL: NPL | No | No | NA |
| p.(Arg390His) | ||||||||
| GCFGL01 | III:2 | 13 | c.1169G>A | 18/20 | NPL: NPL | Trabeculectomy | Yes | OS/OD severe corneal haze |
| III:4 | 5 | p.(Arg390His) | 32/29 | NPL: NPL | Trabeculectomy | No | OS: Habb’s Striae buphthalmol | |
| OD: sever corneal haze | ||||||||
| III:5 | 10 | NA/26 | NPL:20/50 | No | No | OS: phthisis occurred | ||
| OD: severe corneal haze Enlarged anterior segment | ||||||||
| GCUF10 | IV:1 | 3 | c.1169G>A | 28/24 | 20/100:20/70 | Trabeculectomy | Yes | OS/OD Haze Cornea, AGV |
| IV:2 | 5 | p.(Arg390His) | 29/26 | 20/70:20/70 | Trabeculectomy | Yes | OS/OD Haze Cornea, AGV | |
| GCUF23 | III:1 | 22 | c.1169G>A | NA/16 | NPL: NPL | No | No | OS: phthisis occurred |
| p.(Arg390His) | OD: severe haze cornea | |||||||
| III:4 | 43 | NPL: NPL | No | No | OS: severe corneal haze, deep cup | |||
| OD: phthisis occurred | ||||||||
| III:5 | 40 | 26/NA | NPL: NPL | No | No | OS: severe corneal haze | ||
| OD: phthisis occurred | ||||||||
| IV:2 | 30 | 20/NA | PL: NPL | No | No | OS: deep cup | ||
| OD: phthisis occurred | ||||||||
| IV:3 | 27 | 21/16 | PL: NPL | No | No | OS: deep cup | ||
| OD: severe corneal haze | ||||||||
| V:4 | 1.5 | 14062 | PL:PL | Lansectomy and Anterior Vetrectomy | No | OS: AGV done | ||
| OD: AGV done, Opaque cornea | ||||||||
| GCUF19 | IV:6 | 30 | c.1209insTCATGCCACC | NA/16 | NPL:20/100 | Goniotomy | No | OS: phthisis occurred |
| p.(Thr404Serfs*30) | OD: deep cup | |||||||
| IV:7 | 25 | 43804 | 1/60: PL | Trabeculectomy | No | OS/OD deep cup | ||
| IV:8 | 10 | 26/27 | NPL: NPL | Trabeculectomy | Yes | OS/OD deep cup | ||
| V:1 | 3 | 20/17 | 20/70:20/50 | Trabeculectomy | Yes | severe corneal haze | ||
| LUPCG10 | IV:8 | 11 | c.1310C>T | 14/17 | OS 6/24 | Trabeculectomy | Yes | OS/OD CD= 0.8/0.9 |
| p.(Pro437Leu) | OD 6/18 | |||||||
| LUPCG01 | III:6 | 15 | c.1325delC | 30/28 | OS 6/20 | Trabeculectomy | Yes | OS/OD CD= 0.6/0.5 |
| p.(Pro442Glufs*10) | OD 6/10 | |||||||
| III:7 | 25 | 25/25 | OS 6/24 | Trabeculectomy | Yes | OS/OD CD= 0.7/0.6 | ||
| OD 6/24 | ||||||||
| GCUF14 | V:4 | 25 | PCG | 35/33 | NPL: NPL | No | No | severe corneal haze |
| V:7 | 18 | PCG | 30/32 | NPL: NPL | No | No | severe corneal haze | |
| V:11 | 27 | PCG | NA | NPL: NPL | No | No | OS/OD phthisis occurred | |
| GCFGL01 | III:2 | 13 | PCG | 18/20 | NPL: NPL | Trabeculectomy | Yes | OS/OD severe corneal haze |
| III:4 | 5 | PCG | 32/29 | NPL: NPL | Trabeculectomy | No | OS: Habb’s Striae buphthalmol | |
| OD: sever corneal haze | ||||||||
| III:5 | 10 | PCG | NA/26 | NPL:20/50 | No | No | OS: phthisis occurred | |
| OD: severe corneal haze enlarged anterior segment | ||||||||
| PKED05 | III 2 | 18 | PCG | NA | NPL | Trabeculectomy | Yes | OS: phthisis Bulbi |
| OD: phthisis Bulbi | ||||||||
| III 6 | 13 | PCG | 34/44 | 0.266666667 | No | Yes | OS/OD CD= 1.0/0.8 | |
| MG negative | ||||||||
| III 7 | 11 | PCG | 16/20 | NA | No | Yes | opaque cornea in both eyes | |
| OD: leukocoria | ||||||||
| IV 1 | 1 | PCG | NA | PL:PL | Trabeculectomy | Yes | photophobia, large eye balls, OS/OD severe corneal haze |