Table 1 Clinical features of fourteen affected individuals of six consanguineous PCG families.
Pedigree ID | Individual ID | Age at Enrollment (Years) | Gender | Consanguinity | Population caste | Visual Acuity (OD/OS) | CD Ratio | IOP (OD/OS) | Corneal Diameter | Corneal Opacity | Bupthal | Trab | Stages of phenotype |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VI-2 | 15 | Male | Pashtun | HM (-) | NA | NA | NA | Yes | Yes | Yes | Severe | ||
VI-5 | 17 | Female | HM (-) | NA | NA | NA | Yes | Yes | Yes | Severe | |||
PCG-01 | VI-6 | 13 | Female | Yes | HM (-) | NA | NA | NA | Yes | Yes | Yes | Severe | |
VI-7 | 7 | Male | CF2M/HM (+) | 0.8/NA | 36/Error | NA | No/Soft Eye | Yes | Yes | Moderate | |||
PCG02 | IV-3 | 6 Month | Female | Yes | Pashtun | NA(Child) | NA | 20/40 | NA | Yes | Yes | Yes | Moderate |
IV-4 | 11 | Female | CF2M/ | 0.6/NA | 34/8 | NA | Yes/Lift Eye only | Yes | Yes | Moderate | |||
NPL | |||||||||||||
PCG03 | IV-1 | 4 | Male | Yes | Pashtun | NA(Child) | 0.9/0.8 | 10-Oct | NA | No | Yes | Yes | Moderate |
IV-3 | 8 | Female | Pl(+)/3/60 | 0.4/0.6 | 32/14 | Dec-13 | No | Yes | Yes | Moderate | |||
PCG04 | V-1 | 8 Month | Female | Yes | Pashtun | NA(Child) | 0.5/0.7 | 17/22 | 13-Dec | No | Yes | Yes | Moderate |
V-3 | 5 | Male | NA(Child) | NA | 18/14 | 13-Dec | Yes | Yes | No | Severe | |||
PCG05 | V-1 | 1 | Male | Yes | Pashtun | NA(Child) | 0.3/0.3 | 14/15 | 14/13 | No | Yes | Yes | Mild |
V-2 | 3 | Female | NA(Child) | 0.2/0.2 | 09-Nov | NA | Yes | Yes | Yes | Mild | |||
PCG07 | IV-2 | 12 | Male | Yes | Pashtun | NPL | NA | Error | NA | Yes | Yes | Yes | Severe |
IV-4 | 8 | Female | NPL | NA | NA | NA | Yes | Yes | Yes | Severe |
