title: Ocular manifestations of the lacrimo-auriculo-dento-digital syndrome.
abstract: We studied a mother and daughter with an extremely rare constellation of signs and symptoms. One or both had absent lacrimal puncta, nasolacrimal duct obstruction, chronic dacryocystitis, dry eyes, and epiphora. Systemic findings included salivary gland hyposecretion, dental hypoplasia and dysplasia, cup-shaped ears with hearing loss, and digital anomalies. These findings are consistent with those of the lacrimo-auriculo-dento-digital syndrome, a genetic disorder. Our study supports the autosomal dominant inheritance of this syndrome, delineates the ophthalmic manifestations, and provides evidence that renal anomalies are part of the disorder.
authors.affiliation: Jules Stein Eye Institute, Department of Ophthalmology, UCLA School of Medicine 90024.
authors.forename: G W
authors.initials: GW
authors.lastname: Heinz
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
authors.forename: D J
authors.initials: DJ
authors.lastname: Barrett
authors.forename: M
authors.initials: M
authors.lastname: Thangavel
authors.forename: B F
authors.initials: BF
authors.lastname: Crandall
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002648:Child; D005128:Eye Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D013577:Syndrome