A tapetoretinal degeneration with symmetrical calcifications of the basal ganglia. A hereditary disease.
Tapetoretinal degeneration in 3 members of a family is documented with fundus photographs and fluorescein angiograms. Computer tomograms showed intracranial symmetrical calcifications of the central nervous system in 2 patients. Laboratory examinations also indicated a disturbance in calcium metabolism. An autosomal dominant mode of inheritance is probably present.
D000293:Adolescent; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics*; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014792:Visual Acuity