title: Ocular pathology in disialotransferrin developmental deficiency syndrome.
abstract: Disialotransferrin developmental deficiency (DDD) syndrome is a recently described disease consisting of hepatopathy, mental retardation and neuropathy. The biochemical findings indicate a defect in the assembly of the carbohydrate moiety that is common to the secretory glucoproteins. It is believed to be of autosomal recessive inheritance. An ophthalmological examination of ten children suffering from this syndrome showed that all had ocular involvement. Esotropia (and deficient abduction) was found in all ten patients. Seven children had retinitis pigmentosa which was verified by an ERG in three. One patient had retinal signs suggestive of retinitis pigmentosa. The high incidence of ocular findings in the DDD syndrome, which are reported for the first time, indicate that an ophthalmological examination is a helpful diagnostic tool in this disease.
authors.affiliation: Department of Ophthalmology, East Hospital, University of Gothenburg, Sweden.
authors.forename: K
authors.initials: K
authors.lastname: Strömland
authors.forename: B
authors.initials: B
authors.lastname: Hagberg
authors.forename: B
authors.initials: B
authors.lastname: Kristiansson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities; D004596:Electroretinography; D004948:Esotropia; D005260:Female; D006801:Humans; D008297:Male; D009046:Motor Neurons; D009468:Neuromuscular Diseases; D012174:Retinitis Pigmentosa; D013577:Syndrome; D014168:Transferrin / Q000031:analogs & derivatives* / Q000172:deficiency; D014786:Vision Disorders
chemical_list: D014168:Transferrin