Congenital Ophthalmoplegia Externa

Abiotrophic ophthalmoplegia externa.

THE various names given to the condition of ptosis and progressive ophthalmoplegia first described by von Graefe (1868), reflect views regarding the undecided aetiology of this condition, e.g. chronic progressive nuclear ophthalmoplegia, ocular myopathy, progressive muscular dystrophy involving the extra-ocular muscles, etc. M6bius (1900) had named the condition "progressive nuclear ophthalmopl...

Congenital external ophthalmoplegia.

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Congenital external ophthalmoplegia (CFEOM) is an uncommon autosomal dominant condition that has previously been mapped to the pericentromeric region of chromosome 12 in seven families with no evidence of locus heterogeneity. We report three families with typical CFEOM. One family does not map to this region of chromosome 12 or to other chromosomal locations implicated in disorders of lid or oc...

Congenital ophthalmoplegia. A myopathic aetiology in two siblings.

Some Cases of Ptosis

At a recent meeting of the Bath and Bristol Branch of the British Medical Association1 I showed some lantern slides illustrating ptosis, and it has been suggested to me that a short resume of the cases might be of interest to the readers of the Bristol Medico-Chirurgical Journal. The ptosis was symptomatic of ophthalmoplegia externa, and the unusual point was that it came on in middle life in t...