title: Hereditary microphthalmia with colobomatous cyst.
abstract: We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.
authors.affiliation: Department of Ophthalmology, Rambam Medical Center, Haifa, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Porges
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: R
authors.initials: R
authors.lastname: Leibu
authors.forename: D
authors.initials: D
authors.lastname: Goldscher
authors.forename: S
authors.initials: S
authors.lastname: Zonis
authors.forename: I
authors.initials: I
authors.lastname: Shapira
authors.forename: B
authors.initials: B
authors.lastname: Miller
mesh_terms: D002648:Child; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D003560:Cysts / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D009915:Orbit / Q000002:abnormalities*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014057:Tomography, X-Ray Computed