About 380 results

ALLMedicine™ Progressive External Ophthalmoplegia Center

Research & Reviews  150 results

External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic D...
The Neurologist; Igreja L, Ribeiro L et. al.

Apr 21st, 2022 - Myotonic dystrophy type 1 (DM1) is an autosomal dominant condition which phenotype can be extremely variable considering its multisystem involvement, including the central nervous system. Neuromuscular findings are facial and distal extremities mu...

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external...
Molecular Genetics & Genomic Medicine; Hou Y, Zhao X et. al.

Mar 16th, 2022 - This study aimed to investigate the clinical and genetic spectrum in Chinese patients with multiple mtDNA deletions presenting with autosomal-inherited mitochondrial progressive external ophthalmoplegia (PEO). Long-range polymerase chain reaction ...

Kearns-Sayre syndrome with a novel large-scale deletion: a case report.
BMC Ophthalmology; Zhu Q, Chen C et. al.

Jan 26th, 2022 - Kearns-Sayre syndrome (KSS) is a rare, multisystem mitochondrial encephalomyopathy. We report a case of KSS with a novel 7.6-kb deletion as assessed through a long-range polymerase chain reaction (PCR) study in the blood. In addition, optical cohe...

Clinical and molecular spectrum associated with Polymerase-γ related disorders.
Journal of Child Neurology; Jha R, Patel H et. al.

Jan 6th, 2022 - POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related dis...

Surgical Outcomes of Transposition Surgery for the Correction of Large-Angle Strabismus.
Journal of Neuro-ophthalmology : the Official Journal of ... Gokoffski KK, Lifton J et. al.

Nov 18th, 2021 - Many potential surgical options exist to address large-angle deviations and head turns that result from various forms of paralytic strabismus. Muscle transposition surgeries serve as suitable alternatives to simple resection-recessions. Here, we r...

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News  2 results

A 44-Year-Old Man With Blurred Vision

Aug 8th, 2016 - Case Diagnosis The correct answer is brainstem mass. A brainstem mass that involves the midbrain (more commonly the dorsal midbrain) may cause a symmetric limitation in upgaze with convergence retraction because of co-firing of the medial and late...

A Girl With Photophobia

Dec 27th, 2011 - Clinical Presentation An 8-year-old girl was brought to the eye clinic by her mother with a chief complaint of photophobia in both eyes for the past 5 years. The patient's mother expressed concern for the girl's droopy eyelids and proclivity for a...

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