Article

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: 1.23). 07/2009; 30(2):63-8. DOI: 10.1080/13816810802695550
Source: PubMed

ABSTRACT 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.

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    • "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 [43] [44]. "
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    • "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 [1] [2]. 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 [3]. "
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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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    • "Photoreceptor loss also occurs due, in part, to the inability of the degenerated RPE to phagocytose the photoreceptor outer segments, as illustrated by the lack of phagosomes (Ph) within the RPE cells. phagocytosis (Walia and Fishman, 2009). The most common form of the disease is STGD1, which is autosomal recessive. "
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