title: Spectral-domain optical coherence tomography findings in Alström syndrome.
abstract: Alström syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene. The aim of this study was to characterize morphological retinal changes in Alström patients using spectral-domain optical coherence tomography.
  
  
  
  We studied volunteer patients attending the conference of Alström Syndrome International, a support group for affected families, using hand-held spectral-domain optical coherence tomography (SD-OCT) in an office setting. Patients had a clinical dilated retinal examination. Past medical records were reviewed.
  
  
  
  Twenty-two Alström patients (mean age 17 years, range 2-38 years, 12 males) were studied. OCT imaging demonstrated that central macular OCT changes are often mild during the first decade of life and gradually progress, demonstrating disruption of normal retinal architecture, and progressive loss of photoreceptors and retinal pigment epithelium. Other changes found included hyperreflectivities in all retinal layers, severe retinal wrinkling, optic nerve drusen, and vitreoretinal separation. Vision correlated with severity of OCT macular changes (r = 0.89, p = 0.002).
  
  
  
  This study reports on OCT findings in a large group of patients with Alström syndrome. We document a panretinal gradual progression of retinal changes, which are often mild during the first years of life. Previously unreported observations include intraretinal opacities, optic nerve drusen, and foveal contour abnormalities. Morphological retinal changes demonstrated by SD-OCT may help in understanding the pathophysiology of the disease and defining strategies for treatment such as gene therapy.
authors.affiliation: a Ophthalmology Department, Tel Aviv Medical Center, Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.|b Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital , Philadelphia , Pennsylvania , USA.
authors.forename: Gad
authors.initials: G
authors.lastname: Dotan
authors.affiliation: b Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital , Philadelphia , Pennsylvania , USA.|c Department of Vitreoretina and Ocular Oncology , Sankara Nethralaya , Chennai , India.
authors.forename: Vikas
authors.initials: V
authors.lastname: Khetan
authors.affiliation: d The Jackson Laboratory , Bar Harbor , Maine , USA.
authors.forename: Jan D
authors.initials: JD
authors.lastname: Marshall
authors.affiliation: e Diagnostic Center, Wills Eye Hosptial , Philadelphia , Pennsylvania , USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Affel
authors.affiliation: f Bioptigen, Inc., Research Triangle Park , North Carolina , USA.
authors.forename: Denise
authors.initials: D
authors.lastname: Armiger-George
authors.affiliation: d The Jackson Laboratory , Bar Harbor , Maine , USA.
authors.forename: Jürgen K
authors.initials: JK
authors.lastname: Naggert
authors.affiliation: d The Jackson Laboratory , Bar Harbor , Maine , USA.
authors.forename: Gayle B
authors.initials: GB
authors.lastname: Collin
authors.affiliation: b Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital , Philadelphia , Pennsylvania , USA.|g Sidney Kimmel Medical College of Thomas Jefferson University , Philadelphia , Pennsylvania , USA.
authors.forename: Alex V
authors.initials: AV
authors.lastname: Levin
mesh_terms: D000293:Adolescent; D000328:Adult; D056769:Alstrom Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology; D011506:Proteins / Q000235:genetics; D012164:Retinal Diseases / Q000000981:diagnostic imaging*; D055213:Retinal Pigment Epithelium / Q000473:pathology; D041623:Tomography, Optical Coherence; D055815:Young Adult
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins
keywords: Alström syndrome; ocular genetics; optical coherence tomography