Past and present of eye movement abnormalities in ataxia-telangiectasia ...
Besides ataxia and ocular telangiectasias, eye movement abnormalities have long been associated with this disorder and is frequently present in almost all patients. A handful of …
Chapter 9: The Eye and Vision | A-T Children's Project
2023年10月17日 · A number of eye and eye movement disorders are seen in people with Ataxia-Telangiectasia (A-T). These include (1) conjunctival telangiectasia, (2) eye misalignments …
Ataxia-Telangiectasia - StatPearls - NCBI Bookshelf
2024年3月6日 · Ataxia-telangiectasia (A-T) is a rare inherited form of autosomal recessive neurodegenerative ataxia with onset in early childhood. Clinically, this syndrome manifests a …
Ataxia-telangiectasia: Symptoms, Causes and Outlook - Cleveland Clinic
Two defining characteristics of ataxia-telangiectasia are difficulty with coordination (ataxia) and small zig-zag clusters of blood vessels forming in the eyes and on the skin (telangiectasia). …
Ataxia-Telangiectasia in Ophthalmology Clinical Presentation - Medscape
2020年7月28日 · Evidence of intellectual disability becomes apparent as ataxia-telangiectasia progresses. Eye. Telangiectasia of the conjunctiva has a later onset than ataxia and usually …
Ataxia-Telangiectasia in Ophthalmology - Medscape
Ataxia-telangiectasia mainly is due to a defect in a DNA processing or repair protein. The cerebellar and extrapyramidal systems are the most severely affected. This syndrome is …
Ataxia-Telangiectasia: A Case Report and a Brief Review - PMC
Ataxia-telangiectasia is a rare autosomal recessive disorder that is often tricky to diagnose owing to an unpredictable presentation due to the involvement of multiple systems. This could lead to …
Ataxia telangiectasia (A-T) is a childhood-onset, autosomal recessive, cerebellar ataxia with characteristic ocular findings that emphasise the importance of ocular examination in/when …
Ocular manifestations of ataxia-telangiectasia - PubMed
Ocular motor abnormalities, especially strabismus, are a common finding in A-T. Poor accommodation and abnormal eye movements may lead to reading difficulty reported by …
Ataxia-Telangiectasia | Hereditary Ocular Diseases - University of …
Ataxia-telangiectasia (AT), or Louis-Bar syndrome, is a multisystem disorder with serious health implications, the most important being an increased risk for malignancies. It is among the most …