title: Loss of peripapillary sparing in non-group I Stargardt disease.
abstract: The aim of this study was to assess peripapillary sparing in patients with non-group I Stargardt disease. We suggest this as a useful clinical sign for formulating disease severity. Patients with a diagnosis of Stargardt disease were grouped by electroretinogram (ERG). Fundus autofluorescence was used to assess the peripapillary area for involvement in the Stargardt disease process. From a cohort of 32 patients (64 eyes), 17 patients (33 eyes) demonstrated loss of peripapillary sparing. One of 15 patients in Group I, six of 7 patients in group II and 9 of 10 patients in group III demonstrated peripapillary atrophy. One patient in group II had peripapillary flecks. All patients had at least one mutation detected in the ABCA4 gene. Both mutations were detected in 21 patients. Patients in groups II and III had the earliest ages of onset and the poorest visual acuities. Two novel disease causing mutation in the ABCA4 gene were detected. Our data supports the observation that peripapillary sparing is not universal finding for Stargardt disease and peripapillary atrophy is a useful clinical sign for identifying patients with Stargardt disease who fall into the more severe ERG groups, i.e. groups II and III. The presence of atrophy suggests a continuum of disease between groups II and III. Loss of peripapillary sparing is likely associated with the more deleterious mutations of the ABCA4 gene.
authors.affiliation: Department of Ophthalmology, Bernard and Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, Columbia University, 160 Fort Washington Avenue, New York, NY 10032, USA.
authors.forename: Tomas R
authors.initials: TR
authors.lastname: Burke
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
authors.forename: R Theodore
authors.initials: RT
authors.lastname: Smith
authors.forename: Peter
authors.initials: P
authors.lastname: Gouras
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D004596:Electroretinography; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D009896:Optic Atrophy / Q000175:diagnosis* / Q000235:genetics; D009898:Optic Disk / Q000473:pathology*; D055211:Retinal Photoreceptor Cell Inner Segment / Q000473:pathology; D055214:Retinal Photoreceptor Cell Outer Segment / Q000473:pathology; D012189:Retrospective Studies; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters