Retinal and optic nerve findings in Goldenhar-Gorlin syndrome.
Involvement of the posterior segment of the eye in Goldenhar-Gorlin syndrome is more common than is generally appreciated. We examined seven patients with this syndrome. Abnormalities included diminished visual acuity, tilted optic disc, optic nerve hypoplasia, tortuous retinal vessels, macular hypoplasia and heterotopia, microphthalmia and anophthalmia. In one case, pathologic study showed agenesis of the optic nerve. It is proposed that retinal, optic nerve and craniofacial abnormalities in this condition may reflect an asynchrony in the migration of the neural crest cells in the early stages of embryonal development.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D005260:Female; D006053:Goldenhar Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000503:physiopathology*; D009900:Optic Nerve / Q000473:pathology / Q000503:physiopathology*; D012160:Retina / Q000473:pathology / Q000503:physiopathology*