Journal article
In vivo micropathology of Best macular dystrophy with optical coherence tomography
Experimental Eye Research, Vol.76(2), pp.203-211
2003
DOI: 10.1016/S0014-4835(02)00280-4
PMID: 12565808
Abstract
Best macular dystrophy (BMD) is an autosomal dominant retinopathy caused by mutations in the VMD2 gene that encodes a chloride channel in the basolateral membrane of the retinal pigment epithelium (RPE). BMD patients were studied using optical coherence tomography (OCT) to understand the disease process in the macula leading to vision loss. BMD patients (ages 5–61), representing four families with known VMD2 mutations, were included. OCT scans were recorded in the central retina and longitudinal reflectivity profiles were analysed. The central retina in BMD showed different OCT abnormalities at or near the level of the highly reflective deep retinal band termed the outer retina-choroid complex (ORCC). Two types of ORCC change were noted to occur either separately or together: (1) splitting with or without intervening hyporeflective areas; and (2) elevation. Longitudinal study of a BMD patient indicated that such abnormalities were dynamic and changed in type and degree with time. The pathogenetic sequence in BMD may begin with defective fluid transport across the RPE secondary to the channelopathy in the basolateral membrane. In the macula, this leads to an abnormal interface with adjacent structures at both apical and basal surfaces of the RPE. The disease process results in detachments of the neurosensory retina, such as in central serous chorioretinopathy, and sub-RPE pathology resembling some stages of age-related macular degeneration, with eventual loss of photoreceptors, inner retina and central vision.
Details
- Title: Subtitle
- In vivo micropathology of Best macular dystrophy with optical coherence tomography
- Creators
- Michael J Pianta - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 N, 39th Street Philadelphia, PA 19104, USATomas S Aleman - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 N, 39th Street Philadelphia, PA 19104, USAArtur V Cideciyan - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 N, 39th Street Philadelphia, PA 19104, USAJanet S Sunness - Departments of Ophthalmology and Neuroscience, Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USAYuanyuan Li - Johns Hopkins UniversityBetsy A Campochiaro - Departments of Ophthalmology and Neuroscience, Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USAPeter A Campochiaro - Departments of Ophthalmology and Neuroscience, Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USADonald J Zack - Departments of Ophthalmology and Neuroscience, Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USAEdwin M Stone - Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USASamuel G Jacobson - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 N, 39th Street Philadelphia, PA 19104, USA
- Resource Type
- Journal article
- Publication Details
- Experimental Eye Research, Vol.76(2), pp.203-211
- DOI
- 10.1016/S0014-4835(02)00280-4
- PMID
- 12565808
- NLM abbreviation
- Exp Eye Res
- ISSN
- 0014-4835
- eISSN
- 1096-0007
- Publisher
- Elsevier Ltd
- Language
- English
- Date published
- 2003
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980030202771
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