Ophthalmological Findings in a New Syndrome With Muscle, Eye and Brain Involvement

Muscular dystrophy, brain changes, severe visual failure, myopia and eye changes consisting of congenital glaucoma, cataract, optic and renal changes, have not previously been grouped together in any known syndrome. A series of nine children (8 boys and 1 girl) aged 12 months to 10 years, one of whom had died at the age of 6 years, and one adult male patient aged 40 years, are described. The general signs, laboratory findings and genetic aspects have been presented in detail in a previous paper. Severe visual handicap, nystagmus and uncontrolled eyemovements were present in 9/10 patients. Myopia of > 2 D was found in 8/10 and severe myopia (> 10 D) in 6/10 patients. Congenital glaucoma was diagnosed and treated in five children and infantile glaucoma in three children. Glaucoma was caused by defective cleavage of the chamber angle as evidenced by membranes and synechiae of the chamber angle on gonioscopy and by histology. Mature cataract was operated in two patients aged 10 and 23 years, respectively. Microspherophakia was present in two boys. The ERG and VER showed non‐specific changes in the four patients examined. Tapetoretinal dystrophy was not present. A sequence of muscular dystrophy, brain changes, severe visual failure and eye changes consisting of congenital glaucoma, cataract, optic and retinal changes, has not been found within the range of any hitherto known syndrome.