Glaucoma juvenil y foseta papilar con desprendimiento macular asociado a síndrome de Klinefelter

“…As mentioned in the Introduction, there are several cases of ocular problems in KS patients, such as choroidal atrophy 13 , 15 , iris coloboma 14 or iris malformation 16 , cataract 16 , ocular hypertension 17 , 18 or diabetic retinopathy 19 , just to name a few. However, it is difficult to suggest a correlation between these problems and the Klinefelter syndrome, because these problems arise also in many healthy men and women, and the link between these problems and the presence of one or more additional X chromosomes is not known.…”

Section: Discussionmentioning

confidence: 99%

Aberrant ocular architecture and function in patients with Klinefelter syndrome

Brand

Zitzmann²,

Eter

et al. 2017

Sci Rep

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Klinefelter Syndrome (KS), the most common chromosomal disorder in men (47,XXY), is associated with numerous comorbidities. Based on a number of isolated case reports, we performed the first systematic and comprehensive evaluation of eye health in KS patients with a focus on ocular structure and vascularization. Twenty-one KS patients and 26 male and 38 female controls underwent a variety of non-invasive examinations investigating ocular morphology (examination of retinal thickness, optic nerve head, and cornea) and function (visual field testing and quantification of ocular vessel density by optical coherence tomography angiography). In comparison to healthy controls, KS patients exhibited a smaller foveal avascular zone and a decreased retinal thickness due to a drastically thinner outer nuclear layer. The cornea of KS patients showed a decreased peripheral thickness and volume. In perimetry evaluation, KS patients required brighter stimuli and gave more irregular values. KS patients show an ocular phenotype including morphological and functional features, which is very likely caused by the supernumerary X chromosome. Thus, KS should not be limited to infertility, endocrine dysfunction, neurocognitive and psychosocial comorbidities. Defining an aberrant ocular morphology and function, awareness for possible eye problems should be raised.

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Glaucoma juvenil y foseta papilar con desprendimiento macular asociado a síndrome de Klinefelter

Cited by 2 publications

References 3 publications

Macular Detachment Associated With Anomalous Optic Nerves and Dural Ectasia in 49, Xxxxy Syndrome

Macular Detachment Associated With Anomalous Optic Nerves and Dural Ectasia in 49, Xxxxy Syndrome

Aberrant ocular architecture and function in patients with Klinefelter syndrome

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