Klinefelter Syndrome Associated With Goniodysgenesis

  title={Klinefelter Syndrome Associated With Goniodysgenesis},
  author={Juliane Matlach and Franz J Grehn and Thomas Klink},
  journal={Journal of Glaucoma},
Objective:We report a case of a patient with Klinefelter syndrome and glaucoma. Case Presentation:A 30-year-old patient with karyotype 47, XXY, presented with a known medical history of glaucoma. Besides reduced fertility, no characteristic physical or behavioral symptoms for Klinefelter syndrome were found on clinical examination. While both eyes were treated with topical intraocular pressure-lowering medications, an increased intraocular pressure, visual field losses, and advanced optic disc… Expand
Aberrant ocular architecture and function in patients with Klinefelter syndrome
The first systematic and comprehensive evaluation of eye health in KS patients with a focus on ocular structure and vascularization found that KS patients show an ocular phenotype including morphological and functional features, which is very likely caused by the supernumerary X chromosome. Expand
Ocular Manifestations of Endocrinologic Diseases
Each endocrine gland associated with various diseases and their ocular manifestations are discussed within the chapter. Expand
Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets
Assessing gene variants related to testosterone metabolism collectively and POAG risk found testosterone metabolism pathway SNPs were consistently associated with the high-tension subtype of POAG in two datasets. Expand


49,XXXXY Syndrome with Autoimmune Diabetes and Ocular Manifestations
Cataract and glaucoma in this case seem to be the result of diabetes, and an association of these ocular manifestations with the syndrome 49,XXXXY seems unlikely. Expand
Bilateral Detachment of the Macular Neuroepithelium in a Patient with Klinefelter Syndrome
An atypical form of detachment of the macular neuroepithelium was seen in a young patient with Klinefelter syndrome, and the pathophysiological mechanism is not clear. Expand
Klinefelter syndrome: clinical and molecular aspects
Surgical procedures of obtaining sperm in combination with repeated intracytoplasmic sperm injection/in vitro fertilization treatment may allow up to one in four men with Klinefelter syndrome to father children. Expand
Case Report: 49, XXXXY syndrome and high myopia
  • F. Qureshi, G. Thurairajan
  • Psychology, Medicine
  • Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians
  • 2007
A case of high myopia and its successful correction leading to a positive personality change in one such patient is reported and full ophthalmic examination is advocated, under anaesthesia if necessary, and a trial of refractive correction, even in children thought unlikely to tolerate such. Expand
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. Expand
[Klinefelter syndrome].
Klinefelter syndrome is usually underdiagnosed, with an estimated 25% of the expected number of patients being ever diagnosed, and only a minority being diagnosed in childhood. Expand
Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome.
A 5-year-old boy presented with ocular anomalies including microphthalmos, colobomas of the iris, choroid, and optic nerve head, and strabismus and genetic counseling disclosed a 47,XXY karyotype. Expand
Multiple primary tumors including bilateral breast cancers in a man with Klinefelter's syndrome
A 50‐year‐old man with Klinefelter's syndrome developed 6 histologically distinct tumors in sequence; five were considered to be malignant neoplasms. Others have reported an association between thisExpand
FIGURE 2. Gonioscopy of the left eye also verified characteristic alterations of the anterior chamber angle with a high iris root insertion