Natural History of Phenotypic Changes in Stargardt Macular Dystrophy
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.
SourceAvailable from: Nallathambi Jeyabalan[Show abstract] [Hide abstract]
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.01/2015; 2015:1-10. DOI:10.1155/2015/940864
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ABSTRACT: To investigate psychophysical thresholds in Stargardt disease with the full-field stimulus test (FST). Visual acuity, spectral domain optical coherence tomography, full-field electroretinogram, and FST measurements were made in 1 eye of 24 patients with Stargardt disease. Dark-adapted rod FST thresholds were measured with short-wavelength stimuli, and cone FST thresholds were obtained from the cone plateau phase of dark adaptation using long-wavelength stimuli. Correlation coefficients were calculated for FST thresholds versus macular thickness, visual acuity, and electroretinogram amplitudes. The Stargardt disease patients' FST cone thresholds correlated significantly with visual acuity, macular thickness, and electroretinogram cone response amplitudes (all P < 0.01). The patients' FST rod thresholds correlated with electroretinogram rod response amplitudes (P < 0.01) but not macular thickness (P = 0.05). All patients with Stargardt disease with flecks confined to the macula, and most of the patients with flecks extending outside of the macula had normal FST thresholds. All patients with extramacular atrophic changes had elevated FST cone thresholds and most had elevated FST rod thresholds. Full-field stimulus test rod and cone threshold elevation in patients with Stargardt disease correlated well with measures of structure and function, as well as ophthalmoscopic retinal appearance. The Full-field stimulus test appears to be a useful tool for assessing rod and cone function in Stargardt disease.Retina (Philadelphia, Pa.) 04/2014; DOI:10.1097/IAE.0000000000000144 · 3.18 Impact Factor
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ABSTRACT: Retinal degeneration represents a huge burden of blinding disease, and currently there are no effective treatments that reverse the most common causes of neural retinal degeneration. Stem cell biology has the potential to significantly ease this burden, not only through the development of disease models of retinal degeneration but also in the manufacture of a replacement for the neural retinal tissue. This review summarizes the major advancements in the last decade in the field of neural retinal regeneration with an emphasis on the differentiation of embryonic and induced pluripotent stem cells into cells with retinal and specifically photoreceptor characteristics. © 2014 S. Karger AG, Basel.Developments in ophthalmology 01/2014; 53:97-110. DOI:10.1159/000357363