Skip to main content
. 2008 May 2;82(5):1178–1184. doi: 10.1016/j.ajhg.2008.03.007

Figure 1.

Figure 1

Family with Oculo-Auricular Syndrome

(A) Pedigree of consanguineous family with autosomal-recessive oculo-auricular syndrome. Affected individuals are indicated by black symbols, and the proband is indicated by an arrow. Individuals with line above symbol have been tested for mutation.

(B) Eyes of two affected patients. Top: Eyes of the proband (IX.2) showing an early cataract, coloboma, and microphthalmia of OD (15.5 mm); OS was borderline (16.5 mm). At age 7 yr, best corrected visual acuity was 0.05 in OD and 0.16 in OS; corneal thickness was 770 μm OD and 710 μm OS because of a diffuse cornea guttata. Middle: Eyes of the proband a few months later with advanced cataract. Bottom: Eyes of VII.8 presenting cataract and coloboma.

(C) Fundus photography of OS (Retcam II), showing the macular hypoplasia, inferior chorio-retinal coloboma, retinal dysplasia, and Morning Glory-like optic nerve head, with a magnified view of the latter (left corner).

(D) External ear of the three affected patients at two different ages. The three ear pinnas present a deformation of the lobule. Left: Patient IX.2. Middle: Patient VII.9. Right: Patient VII.8.