Ocular findings in triploidy

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

Research output: Contribution to journalArticle

17 Citations (Scopus)

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 - Jan 1 1977
Externally publishedYes

Fingerprint

Triploidy
Mosaicism
Eye Abnormalities
Syndactyly
Intellectual Disability
Retinal Dysplasia
Persistent Hyperplastic Primary Vitreous
Blepharophimosis
Facial Hemiatrophy
Incontinentia Pigmenti
Blepharoptosis
Coloboma
Optic Atrophy
Disorders of Sex Development
Braces
Cleft Palate
Iris
Growth
Tears
Cataract

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Fulton, A. B., Howard, R. O., Albert, D., 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

Ocular findings in triploidy. / Fulton, Anne B.; Howard, Rufus O.; Albert, Daniel; Hsia, Y. E.; Packman, S.

In: American Journal of Ophthalmology, Vol. 84, No. 6, 01.01.1977, p. 859-867.

Research output: Contribution to journalArticle

Fulton, AB, Howard, RO, Albert, D, Hsia, YE & Packman, S 1977, 'Ocular findings in triploidy', American Journal of Ophthalmology, vol. 84, no. 6, pp. 859-867. https://doi.org/10.1016/0002-9394(77)90510-4
Fulton, Anne B. ; Howard, Rufus O. ; Albert, Daniel ; Hsia, Y. E. ; Packman, S. / Ocular findings in triploidy. In: American Journal of Ophthalmology. 1977 ; Vol. 84, No. 6. pp. 859-867.
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