Franceschetti and Valerio (1945) described a 3-year-old Swiss girl who had bilateral mild microphthalmia with marked corneal opacities similar to corneal sclerosis and increased intraocular pressure on the left, and whose vision was limited to perception of light. ... Franceschetti and Valerio (1945) described a 3-year-old Swiss girl who had bilateral mild microphthalmia with marked corneal opacities similar to corneal sclerosis and increased intraocular pressure on the left, and whose vision was limited to perception of light. She also had bilateral symmetric abnormalities of the external ear, characterized by a primitive appearing intertragic notch and coloboma of the lobule. Her 6-year-old brother also had eye and ear malformations, including bilateral mild microphthalmia with microcornea, inferonasal coloboma of the iris, anteroinferior polar cataract, and microphakia. The fundus was not visible, and he could recognize objects at 30 cm. His ear findings were identical to his sister's; both sibs had normal hearing. Their mother had a bilateral mild symmetric abnormality of the ear lobes. The authors stated that there were no other anomalies in the patients or other family members. Schorderet et al. (2008) reported a developmental defect affecting the eye and external ear in 3 members of a consanguineous Swiss family, 2 of whom had been described by Franceschetti and Valerio (1945). Their proband, the great-nephew of the previously described sibs, presented at 2 months of age with congenital nystagmus, bilateral microcornea, posterior synechiae, bilateral cataract, colobomatous microphthalmia of the right eye, and anterior segment dysgenesis consisting of incomplete coloboma of the iris, stromal iris cyst of the right eye, and iridocorneal adherences in the left eye. Fundal examination revealed dysplastic macropapillae reminiscent of morning glory syndrome (see 120430), macular hypoplasia, and peripheral inferonasal chorioretinal coloboma. The cataract was rapidly progressive, requiring surgery at 11 months of age. Ophthalmoscopy at 7 years of age revealed the presence of circumferential abnormalities of the retinal pigment epithelium and chorioretinal atrophic lacunae at the equator, and the patient had rod-cone dystrophy on ERG. His ears showed lobular aplasia, a narrow intertragic notch, and an abnormal bridge connecting the crus of the helix and antihelix, resulting in complete separation between the cymba and the conqua. Audiogram and vestibular function were normal. Reexamination of the great-uncle revealed an inferior chorioretinal coloboma of the right eye and lacunae of the left; the great-aunt's fundus was not visible. Other systemic findings included 3 maxillary dental rows in the great-uncle and spina bifida occulta and moderate dyscrania with flattening of the cranial base and short mandibular rami in the great-aunt.
In 3 affected members of a consanguineous Swiss family with an oculoauricular syndrome mapping to chromosome 4p16, Schorderet et al. (2008) identified homozygosity for a 26-bp deletion in the HMX1 gene (142992.0001). The parents of the proband were ... In 3 affected members of a consanguineous Swiss family with an oculoauricular syndrome mapping to chromosome 4p16, Schorderet et al. (2008) identified homozygosity for a 26-bp deletion in the HMX1 gene (142992.0001). The parents of the proband were heterozygous for the deletion, which was not found in more than 250 ethnically matched controls or in more than 500 patients with various eye diseases.