Ocular findings in triploidy

Anne B. Fulton, Rufus O. Howard, Daniel M. Albert, Y. E. Hsia, S. Packman

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child, 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and ambiguous genitalia. Ocular abnormalities included hypotelorism, blepharophimosis, microcornea, iris coloboma, cataract, persistent hyaloid vasculature, retinal dysplasia, and optic atrophy. A 16-year-old girl with triploid mosaicism had congenital left facial and body hemiatrophy, both growth and mental retardation, left-sided grand mal seizures, incontinentia pigmenti of both legs, partial syndactyly, and generalized weakness. Results of her ocular examination were within normal limits. A 13-year-old boy with triploid mosaicism exhibited both growth and mental retardation, truncal obesity, and required a brace to support his back. Ocular findings included synophrys, bilateral blepharoptosis, and abnormal results of Schirmer tear test. Studies indicate a wide spectrum of ocular and systemic abnormalities occur that are presumably associated with the chromosome error.

Original languageEnglish (US)
Pages (from-to)859-867
Number of pages9
JournalAmerican journal of ophthalmology
Volume84
Issue number6
DOIs
StatePublished - Dec 1977

ASJC Scopus subject areas

  • Ophthalmology

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    Fulton, A. B., Howard, R. O., Albert, D. M., Hsia, Y. E., & Packman, S. (1977). Ocular findings in triploidy. American journal of ophthalmology, 84(6), 859-867. https://doi.org/10.1016/0002-9394(77)90510-4