High Myopia Associated with Triple X Syndrome
نویسندگان
چکیده
منابع مشابه
X-linked high myopia associated with cone dysfunction.
OBJECTIVE Bornholm eye disease (BED) consists of X-linked high myopia, high cylinder, optic nerve hypoplasia, reduced electroretinographic flicker with abnormal photopic responses, and deuteranopia. The disease maps to chromosome Xq28 and is the first designated high-grade myopia locus (MYP1). We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. A...
متن کاملTriple X syndrome.
Triple X syndrome 47XXX is a sex chromosome abnormality characterized by presence of an extra X chromosome. Most of the girls born with triple X chromosomes have no signs or symptoms at birth. The condition often remains undiagnosed until adulthood when the genetic defect is discovered on investigation for other reasons as in this case of a young girl who presented with primary amenorrhoea. Cli...
متن کاملDivergence insufficiency associated with high myopia
PURPOSE Divergence insufficiency is generally regarded as a neurological event. While high myopia is not a well-known cause of divergence insufficiency, we frequently encounter divergence insufficiency in high-myopia patients. Thus, the purpose of this study was to report detailed information on such cases and examine mechanisms that might potentially be responsible for this disorder. METHODS...
متن کاملX-linked cone dysfunction syndrome with myopia and protanopia.
PURPOSE To perform a detailed clinical, psychophysical, and molecular assessment of members of 4 families with an unusual X-linked cone dysfunction syndrome associated with myopia. PARTICIPANTS Affected and unaffected members of 4 British nonconsanguineous families. METHODS Subjects underwent both detailed clinical examination and psychophysical testing. After informed consent was obtained,...
متن کاملA Case Associated with Comorbidities Among Cerebral Infarction, Idiopathic Thrombocytopenic Purpura, and Triple X Syndrome
A 46-year-old female presented to the emergency room due to the chief complaint of left-sided weakness. By imaging study, she was diagnosed with cerebral infarction. Thrombolytic and antiplatelet agents were not considered due to the "golden hour" for treatment having passed and a low platelet count. The peripheral blood smear, bone marrow biopsy, and aspirate findings were consistent with immu...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neuro-Ophthalmology
سال: 2016
ISSN: 0165-8107,1744-506X
DOI: 10.3109/01658107.2016.1167922