Table 4. Clinical features of affected individuals with variants identified in this study.
Variations | Sex | Age (yrs) at | Inheri- | Visual acuity | Cataract types | Cornea diameter | Nystagmus | Other abnormalities | |||
Family ID | Gene | Nucleotide | Exam | Onset | tance | Right;Left | Right;Left | ||||
Family 1 | CRYBA4 | c.26C>T | M | 5 | NA | S | 0.2;0.1 | Lamellar, punctate | NA | No | Myopia |
Family 2 | CRYBB2 | c.326T>A | M | NA | NA | AD | 0.07;0.1 | membrane cataract | 10 mm;10 mm | Yes | No |
Family 3 | EPHA2 | c.1046C>T | F | 6 | FMB | AD | 0.1;0.1 | Nuclear | NA | No | StrabismusOS |
Family 4 | GJA8 | c.130G>A | F | 7 | FMB | AD | 0.1;0.1 | NA | NA | Yes | No |
Family 5 | GJA8 | c.367G>A | M | 31 | NA | AD | FC;0.6 | Nuclear | NA | No | StrabismusOD |
Family 6 | MAF | c.880C>T | M | 0.3 | FMB | AD | NA | Nuclear | NA | Yes | No |
Family 7 | MIP | c.500delC | M | 30 | FMB | NA | 0.01;0.01 | Nuclear | 10 mm;10 mm | Yes | No |
Family 8 | NHS | c.556G>T | F | 5 | NA | NA | 0.3;0.2 | Punctate | NA | No | Myopia |
Family 9 | NHS | c.853-1G>A | M | 16 | FMB | XL | 0.05;0.05 | NA | 10 mm;10 mm | Yes | No |
Family 10 | NHS | c.1117C>T | M | 19 | FMB | XL | FC;FC | Nuclear | 8 mm;8 mm | Yes | No |
Family 11 | NHS | c.2716_2719delTTAG | F | 0.5 | FMB | XL | PL;PL | Nuclear | 9 mm;9 mm | Yes | No |
Note: NA = not available; S = sporadic; FMB = first few month; AD = autosomal dominant; XL = X-linked; FC = finger counting; PL = pursuit of light; OD = right eye; OS = left eye.