Skip to main content
. 2014 Jun 26;9(6):e100455. doi: 10.1371/journal.pone.0100455

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.