Klinefelter Syndrome (49, XXXXY/48, XXXY) associated with narrow angle glaucoma: A case report.
Bol Asoc Med P R
; 108(1): 85-90, 2016.
Article
em En
| MEDLINE
| ID: mdl-29193925
ABSTRACT
INTRODUCTION:
Previous studies have described Klinefelter syndrome as a genetic disorder characterized by at least one extra X chromosome and at least 47 chromosomes. It is the most common sex chromosome aneuploidy among men. Patients may present with large height, gynecomastia, low testosterone levels, infertility, hypogonadism and diseases usually more common in females such as osteoporosis, breast cancer and auto-immune disorders. Other rare ophthalmic associations have been described, such as diffuse choroidal atrophy, microphtalmia, cataracts, juvenile glaucoma, choroid colobomas and goniodysgenesis.OBJECTIVES:
To report on the ocular findings in a Puerto Rican patient with Klinefelter syndrome (XXXXY/XXXY). PATIENTS ANDMETHODS:
A patient with Klinefelter syndrome with revious history of elevated intraocular pressure underwent a comprehensive ocular examination, Humphrey visual fields and Stratus optical coherence tomography (OCT) tests. Patient had inreased intraocular pressure, visual field loss and OCT findings compatible with glaucoma. After laser YAG laser iridotomies, high IOP persisted. Brimonidine 0.2 % drops three times a day drops were prescribed to lower IOP.CONCLUSIONS:
A patient with Klinefelter syndrome had poor visual acuity, high intraocular pressure, visual fields and OCT results, all compatible with angle closure glaucoma as part of the syndrome.
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Bases de dados:
MEDLINE
Assunto principal:
Glaucoma de Ângulo Fechado
/
Hipertensão Ocular
/
Síndrome de Klinefelter
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
País/Região como assunto:
Caribe
/
Puerto rico
Idioma:
En
Revista:
Bol Asoc Med P R
Ano de publicação:
2016
Tipo de documento:
Article