Ophthalmoplegia and Congenital Cranial Dysinnervation Disorders

ABSTRACT Some forms of ophthalmoplegia are congenital and fall into the category of Congenital Cranial Dysinnervation Disorders (CCDDs). These disorders arise from a primary defect of cranial nucleus/nerve development or guidance. Many have substantial limitations of ocular motility with or without other associated features. The type and degree of ophthalmoplegia can be similar between CCDD subtypes as well as with non-congenital forms of ophthalmoplegia. Therefore diagnostic confirmation often requires neuro-imaging and/or genetic investigations. The clinician should consider this category in cases of ophthalmoplegia that are congenital and nonprogressive in nature.

[1]  D. Hunter,et al.  Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. , 2014, Ophthalmology.

[2]  K. Abu-Amero,et al.  Congenital cranial dysinnervation disorders: a concept in evolution , 2013, Current opinion in ophthalmology.

[3]  J. Demer,et al.  Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. , 2010, Investigative ophthalmology & visual science.

[4]  A. Ganesh,et al.  Congenital fibrosis of the extraocular muscles , 2010, Oman journal of ophthalmology.

[5]  E. Engle,et al.  The clinical spectrum of homozygous HOXA1 mutations , 2008, American journal of medical genetics. Part A.

[6]  J. Demer,et al.  Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. , 2007, Investigative ophthalmology & visual science.

[7]  E. Engle,et al.  Genetic basis of congenital strabismus. , 2007, Archives of ophthalmology.

[8]  R. Robertson,et al.  Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. , 2006, Brain : a journal of neurology.

[9]  R. Baloh,et al.  Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations , 2006, Neurology.

[10]  E. Engle,et al.  Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development , 2005, Nature Genetics.

[11]  R. Baloh,et al.  Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. , 2005, Neurology.

[12]  Joseph L Demer,et al.  Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. , 2005, Investigative ophthalmology & visual science.

[13]  E. Engle,et al.  110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs) Naarden, The Netherlands, 25–27 October, 2002 , 2003, Neuromuscular Disorders.

[14]  J. Demer,et al.  Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. , 2007, Investigative ophthalmology & visual science.