Uveal coloboma and true Klinefelter syndrome.

François, J.; Leuven, M. Th. Matton-Van; Gombault, P

doi:10.1136/jmg.7.3.213

Cited by 12 publications

(6 citation statements)

References 58 publications

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“…The cardinal symptoms and signs of Klinefelter syndrome are a tall stature, small testes, gynecomastia, infertility, and psychosocial disorders. 2 3 4 In our patient, several of these features were present, including small testes, infertility, and depression. Various ophthalmological abnormalities have been reported in clinical reports on Klinefelter syndrome, including uveal coloboma, microphthalmia, cataract, diffuse choroidal atrophy, and juvenile glaucoma.…”

Section: Discussionmentioning

confidence: 57%

“…It is most often the result of one extra X, leading to a 47, XXY karyotype instead of the classic 46, XY in most males. 2 3 It is the most common chromosome disorder in men (1:500–1:1000) and is caused by meiotic nondisjunctions in parental germ cells. 4 First described in 1940, the syndrome has since been associated with multiple comorbidities in various organ systems.…”

Section: Discussionmentioning

confidence: 99%

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Microspherophakia and lens subluxation in Klinefelter syndrome: A case report

Laeken,

Leysen,

Keer

2023

J Curr Ophthalmol

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Section: Discussionmentioning

confidence: 57%

Section: Discussionmentioning

confidence: 99%

Microspherophakia and lens subluxation in Klinefelter syndrome: A case report

Laeken,

Leysen,

Keer

2023

J Curr Ophthalmol

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“…The association of Klinefelter syndrome and uveal colobomata has been recorded previously (Francois, Matten-Van Leuven, and Gombault, 1970). It is a rare association but these authors recorded the fourth case in the literature, and after reviewing the incidence of uveal colobomata and Klinefelter syndrome as separate entities, they concluded that the probability of a chance association was in the region of one in six million.…”

Section: Discussionmentioning

confidence: 88%

Uveal colobomata and Klinefelter syndrome.

Hashmi¹,

Karseras²

1976

British Journal of Ophthalmology

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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

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“…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).…”

Section: Discussionmentioning

confidence: 99%

Diffuse Choroidal Atrophy and Klinefelter Syndrome

Wolkstein

Atkin

Willner³

et al. 1983

Acta Ophthalmologica

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We report the first case of diffuse choroidal atrophy associated with Klinefelter syndrome. Retinal findings included midperipheral bone corpuscular pigmentation, large areas suggestive of choroidal atrophy, and unusual golden crystalline structures that apparently were mainly in the neurosensory retina. A sensorineural hearing deficit was also noted. Biochemical studies, including amino acid blood levels, were within normal limits. This case is of interest because of the rarity of association between Klinefelter syndrome and retinal or, in fact, any ocular abnormalities.

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Uveal coloboma and true Klinefelter syndrome.

Cited by 12 publications

References 58 publications

Microspherophakia and lens subluxation in Klinefelter syndrome: A case report

Microspherophakia and lens subluxation in Klinefelter syndrome: A case report

Uveal colobomata and Klinefelter syndrome.

Diffuse Choroidal Atrophy and Klinefelter Syndrome

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