title: Late-onset retinal dystrophy in alpha-mannosidosis.
abstract: alpha-Mannosidosis is a rare lysosomal storage disease that is caused by an inherited deficiency of the lysosomal alpha-mannosidase. Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly. Only few cases with ocular symptoms have been reported, mainly with lenticular opacities. We report on two brothers with complex neurological symptoms who presented with late-onset retinal dystrophy and were followed up for 6 years.
authors.affiliation: Department of Ophthalmology, University of Heidelberg, Germany.
authors.forename: Christina
authors.initials: C
authors.lastname: Springer
authors.forename: Alexander
authors.initials: A
authors.lastname: Gutschalk
authors.forename: Hans-Michael
authors.initials: HM
authors.lastname: Meinck
authors.forename: Klaus
authors.initials: K
authors.lastname: Rohrschneider
mesh_terms: D000328:Adult; D018450:Disease Progression; D004596:Electroretinography; D006801:Humans; D008297:Male; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D013997:Time Factors; D015354:Vision, Low / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D014792:Visual Acuity; D008363:alpha-Mannosidosis / Q000150:complications*