Ocular findings in muscular dystrophies

  title={Ocular findings in muscular dystrophies},
  author={Ferhat Evliyaoğlu and A. Burakgazi},
Muscular dystrophies are a heterogeneous class of inherited disorders presenting with different clinical, genetic, and biochemical features. Musc ular dystrophies include Duchennemuscular dystrophy (DMD) and Becker muscular dystrophy (BMD) myotonic dystrophy (DM), oculopharyngeal muscular dystrophy (OPMD), facioscapulohumeral muscular dy strophy (FSHD), limb-girdle muscular dystrophy (LGMD), distal muscular dystrophy, and congenital muscular dystrophy (CMD)types, each with a wide spectrum of… Expand
1 Citations
Myopathic Blepharoptoses: A New Classification System.
Making the distinction of myopathic ptosis type early will maximize patient outcomes by optimizing surgical and systemic management and facilitating the recruitment of subspecialists to care for patients with these challenging conditions. Expand


Limb-girdle muscular dystrophy
A diagnostic approach is outlined based on clinical features, genetics, and commercially available testing, which appears to be due to mutations affecting the ubiquitin-proteasome pathway. Expand
The muscular dystrophies.
Advances in the field include improved methods of diagnosis, continued identification of disease genes, and the development of a unified model of pathogenesis in facioscapulohumeral dystrophy, which are reflected in thedevelopment of new therapeutic approaches. Expand
The congenital muscular dystrophies in 2004: a century of exciting progress
In this review, it is presented how the congenital muscular dystrophies field has evolved over the last decade from a clinical and genetic point of view. Expand
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C
A 37-year-old man, healthy until age 25 years, came to the attention for progressive limb weakness causing difficulty in climbing stairs and running and showed extraocular muscle paresis with vertical and lateral gaze limitation, bilateral exophthalmos and partial blepharoptosis. Expand
Extraocular muscle involvement in Becker muscular dystrophy
Limitation of gaze and slow saccadic eye movements by clinical examination and video-oculography in a patient with Becker muscular dystrophy suggests that a dystrophinopathy should be considered in a patients with features characteristic of Becker muscular Dystrophy even when mild impairment of eye movements is present. Expand
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy is a genetically heterogeneous disorder, which includes patients with oculopharyngeal muscular dystrophy but, for the most part, is different genetically from oculophileal muscular Dystrophy. Expand
Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco
To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, 10 cases of DMD/BMD with particular features are presented and it is shown that only identification involved mutation by genetic analysis can establish a correct diagnosis. Expand
[Facioscapulohumeral muscular dystrophy].
The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence, however, the onset and severity of the condition varies widely. Expand
Muscle-eye-brain disease (MEB)
Spasticity, high VEPs and ocular manifestations differentiate MEB from the Fukuyama type congenital muscular dystrophy, which suggests an autosomal recessive inheritance. Expand
[Progressive external ophthalmoplegia and distal myopathy].
It is shown that progressive external ophthalmoplegia must be interpreted as an ocular myopathy, and the association with the distal myopathy at the level of the higher limbs, upholds this pathogeny. Expand