Natural History of Phenotypic Changes in Stargardt Macular Dystrophy
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60612-7234, USA. Ophthalmic Genetics
(Impact Factor: 1.46).
07/2009; 30(2):63-8. DOI: 10.1080/13816810802695550
Stargardt macular dystrophy is the most common form of juvenile onset macular degeneration. This article reviews the four stages through which this dystrophy may progress. Also, reviewed here are the variations that may be observed in the visual acuity of patients with Stargardt disease.
Available from: Jon Roger Eidet
- "Among the most important are phagocytosis of shed photoreceptor (PR) outer segments, regeneration of the visual cycle pigment rhodopsin, transportation of glucose and nutrients from the choroid to the distal part of the neuroretina, and transportation of excess fluid in the opposite direction  . Malfunction of the RPE, implying a disrupted ability to perform these tasks, is a direct cause of prevalent retinal diseases like age-related macular degeneration (AMD)   and a consequence of inherited disorders like Stargardt disease . A promising approach for treatment of these diseases is the transplantation of tissue engineered RPE     . "
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. Replacement of the diseased retinal pigment epithelium (RPE) with cells capable of performing the specialized functions of the RPE is the aim of cell replacement therapy for treatment of macular degenerative diseases. A storage method for RPE is likely to become a prerequisite for the establishment of such treatment. Herein, we analyze the effect of storage temperature on key functions of cultured RPE cells.
. Cultured ARPE-19 cells were stored in Minimum Essential Medium at 4°C, 16°C, and 37°C for seven days. Total RNA was isolated and the gene expression profile was determined using DNA microarrays. Comparison of the microarray expression values with qRT-PCR analysis of selected genes validated the results.
. Expression levels of several key genes involved in phagocytosis, pigment synthesis, the visual cycle, adherens, and tight junctions, and glucose and ion transport were maintained close to control levels in cultures stored at 4°C and 16°C. Cultures stored at 37°C displayed regulational changes in a larger subset of genes related to phagocytosis, adherens, and tight junctions.
. RPE cultures stored at 4°C and 16°C for one week are capable of maintaining the expression levels of genes important for key RPE functions close to control levels.
- "SMD is caused by mutations in the adenosine triphosphate (ATP)-binding cassette transporter (ABCA4) gene. A clinically similar but less common disorder is inherited in an autosomal dominant fashion, which is caused by mutations in the ELOVL4 gene  . "
Available from: Nallathambi Jeyabalan
- "Stargardt disease (STGD: OMIM #248200/#600110) is an inherited genetic eye disease in which patients develop bilateral macular dystrophy leading to progressive loss of central vision in early childhood. It is the most common form of autosomal recessive juvenile macular dystrophy with a reported prevalence of 1 : 10000  . The disease is characterized by loss of central vision, fundus flavimaculatus, mottling or atrophy of the retinal pigment epithelium (RPE), bull's eye maculopathy, flecks in the macula, beaten-bronze macular appearance, and cone-rod dysfunction . "
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ABSTRACT: Stargardt disease (STGD) is the leading cause of juvenile macular degeneration associated with progressive central vision loss, photophobia, and colour vision abnormalities. In this study, we have described the clinical and genetic features of Stargardt patients from an Indian cohort. The next generation sequencing was carried out in five clinically confirmed unrelated patients and their family members using a gene panel comprising 184 retinal specific genes. Sequencing results were analyzed by read mapping and variant calling in genes of interest, followed by their verification and interpretation. Genetic analysis revealed ABCA4 mutations in all of the five unrelated patients. Among these, four patients were found with compound heterozygous mutations and another one had homozygous mutation. All the affected individuals showed signs and symptoms consistent with the disease phenotype. We report two novel ABCA4 mutations in Indian patients with STGD disease, which expands the existing spectrum of disease-causing variants and the understanding of phenotypic and genotypic correlations. Screening for causative mutations in patients with STGD using panel of targeted gene sequencing by NGS would be a cost effective tool, might be helpful in confirming the precise diagnosis, and contributes towards the genetic counselling of asymptomatic carriers and isolated patients.
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