Figure 2. The blue sclera of affected individuals

The proband (V:3) was a 14-year-old boy, whose sclerae were blue. The thinning of the sclera makes it possible to transmit the light reflected from the underlying uveal pigment and gives it the bluish color observed clinically. His uncorrected visual acuity was OD, 20/10; OS, 20/10. His intraoclar pressures (Goldmann tonometry) were OD, 14.7 mmHg; OS, 18.3 mmHg. His keratometry evaluation revealed the following: OD, K1 43.3, K2 43.6; OS, K1 43.0, K2 44.0. The ocular axis lengths were normal: OD, 24.03 mm; OS, 24.23 mm. His CCT were low: OD, 434 mm; OS, 441 mm. The other ocular examinations including the anterior chamber and the fundus had no positive findings.