Uveal colobomata and Klinefelter syndrome.

Abstract

Most multiple congenital abnormality syndromes associated with uveal colobomata have their origins dating from before intrauterine development. Causative genetic and chromosomal influences were reviewed (James, Karseras, and Wybar, 1974), but associated abnornalities of the sex chromosomes were not observed in their series and are a rare occurrence in the literature. It is of interest therefore to record uveal colobomata occurring in a patient with Klinefelter syndrome and to discuss the possible implications. This association has not been recorded in Britain previously. Material and methods CASE REPORTA z7-year-old White youth presented with concemr about the lack of development of his external genitalia. Bilateral iris colobomata had been noted at birth and he had attended an ophthalmologist from that time. He had been wearing contact lenses for three years.The parents were unrelated and there was no family history of ocular abnormality. Examination of both .. a l parents revealed normal eyes. The father and mother were both 45 years old at the time of his conception.There was one normal brother, three years older, and the mother had had a diagnostic x-ray of the pelvis luring the pregnancy of this child. uxillary hair was scanty and pubic hair had a female listribution (Fig. 3). There was a mild gynaecomastia

Vitrectomy for Proliferative Diabetic Retinopathy Associated with Klinefelter Syndrome

“…Ocular disorders in KS include uveal coloboma [ 5 ], choroidal atrophy [ 6 ], retinal degeneration [ 7 ], retinal vascular hypoplasia [ 8 ], cataracts [ 9 ], glaucoma [ 9 ], microphthalmia [ 10 ], and aniridia [ 11 ]. However, diabetic retinopathy has seldom been reported [ 4 ], and to the best of our knowledge, there have been no previous reports of severe PDR requiring vitrectomy.…”

Diffuse Choroidal Atrophy and Klinefelter Syndrome

“…Ocular abnormalities are uncommon in Klinefelter syndrome (Duke-Elder 1976). Uveal colobomata (Francois et al 1970;Hashmi & Karseras 1976), bilateral anophthalmos (Wetter et al 1974), and unilateral corneal opacities (Boreaux et al 1969) have been reported. Mild lens opacities have been described in patients who have both Klinefelter syndrome and myotonic dystrophy (Sparkes et al 1973;Fiol et al 1975).…”

Bilateral Detachment of the Macular Neuroepithelium in a Patient with Klinefelter Syndrome

“…Ocular abnormalities, especially retinal disord e r s , a re uncommon in Klinefelter syndrome (4). Howeve r, ocular malformations associated with Klinefelter s y n d rome are described in the literature, including bilateral anophthalmos (5), aniridia (6), iris coloboma (7,8), Peters anomaly (9), choroidal coloboma (6), hereditary retinoblastoma (10) and incontinentia pigmenti (11). Chorioretinal findings associated with Klinefelter syndrome are diffuse choroidal atro p h y (12) and degeneration of the retinal pigment epithelium (13).…”