Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.
Three cases of ophthalmic malformations are discussed from the standpoint of the usefulness of ultrasound evaluation, however with respectful reference to the revised classification of microphthalmos and coloboma presented by Warburg 1993. The main findings were, (case 1): microphthalmos with iris coloboma, unilateral posterior orbital cyst, and mental retardation, karyotype normal, consanguineous parents, (case 2) trisomy 13 with extreme microphthalmos and cheilo-gnatho-palatoschisis, and (case 3) ringchromosome 14, posterior fundus colobomas, and malformation of the heart, with features corresponding to the CHARGE association.
Fledelius
H C
HC
University Department of Ophthalmology, Rigshospitalet, Copenhagen Denmark.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D003103:Coloboma / Q000000981:diagnostic imaging* / Q000235:genetics; D003241:Consanguinity; D003560:Cysts / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D008297:Male; D008850:Microphthalmos / Q000000981:diagnostic imaging* / Q000235:genetics; D009916:Orbital Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D012160:Retina / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D012303:Ring Chromosomes; D014314:Trisomy / Q000235:genetics; D014463:Ultrasonography