Spectral-domain optical coherence tomography findings in Alström syndrome

Autor:	Gayle B. Collin, Gad Dotan, Vikas Khetan, Jan D. Marshall, Elizabeth Affel, Jürgen K. Naggert, Alex V. Levin, Denise Armiger-George
Rok vydání:	2017
Předmět:	Adult Male 0301 basic medicine medicine.medical_specialty Pathology Adolescent Cell Cycle Proteins Spectral domain Retinal Pigment Epithelium Article Young Adult 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Retinal Diseases Optical coherence tomography Ophthalmology medicine Humans Fluorescein Angiography Child Alstrom Syndrome Genetics (clinical) ALMS1 GENE medicine.diagnostic_test business.industry Proteins Retinal medicine.disease 030104 developmental biology chemistry Child Preschool Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry Female sense organs business Tomography Optical Coherence Photoreceptor Cells Vertebrate Alström syndrome
Zdroj:	Ophthalmic Genetics. 38:440-445
ISSN:	1744-5094 1381-6810
DOI:	10.1080/13816810.2016.1257029
Popis:	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.
Databáze:	OpenAIRE
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