Comitant strabismus Perspectives, present and future

Geneeskunde en GesondheidswetenskappeOogheelkundePlease help us populate SUNScholar with the post print version of this article. It can be e-mailed to: [email protected]

Variable Ptosis and Botulinum Toxin Type A Injection with Positive Ice Test Mimicking Ocular Myasthenia Gravis

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Visual Loss in Orbitofacial Neurofibromatosis Type 1

Geneeskunde en GesondheidswetenskappeOogheelkundePlease help us populate SUNScholar with the post print version of this article. It can be e-mailed to: [email protected]

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic syndrome due to homozygous mutations of the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). Onset of symptoms occurred in the first few months of life with ptosis, restricted ocular motility, mild proximal weakness, and difficulty swallowing. Multiple hospital admissions were required due to recurrent pulmonary infections. There was no decremental conduction on repetitive nerve stimulation, but jitter was increased on single fiber electromyographic. Since early childhood, our patients have done well without pulmonary or bulbar symptoms and with partial improvement on pyridostigmine therapy. Response of ptosis to diagnostic ice pack test was striking. Although these siblings have a clinical history and examination findings typical of homozygous CHRNE mutations, the clinical presentation of congenital myasthenia subtypes is variable, and accurate genotyping is essential in choosing the appropriate treatment

A novel syndrome caused by the E410K amino acid substitution in the neuronal B-tubulin isotype 3

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