Congenital ophthalmoplegia plus External ophthalmoplegia, nystagmus, retinal dystrophy and endocrine disorder in two brothers

Abstract

Two brothers are reported with an apparently new disease of the'ophthalmoplegia plus’ complex. It is distinguished by congenital progressive external ophthalmoplegia and abnormal shape of head. Autosomal recessive transmission is likely. Mitochondrial cytopathy could not be detected. The other features include myopia, atypical retinal dystrophy with isoelectric Erg, progressive optic atrophy, pituitary hormone deficiency with severe stunting of growth, and generalized muscular hypotonia. One of the boys had keratoglobus, which developed an acute phase necessitating thermocautery. He also had a cardiac conduction defect.

Key Words:

• congenital external ophthalmoplegia
• retinal dystrophy
• keratoglobus
• hypopituitarism
• cardiomyopathy
• autosomal recessive inheritance