Cases reported "Macular Degeneration"

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1/6. A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

    PURPOSE: To identify additional mutations in the ABCR gene and describe the clinical features of four affected siblings with autosomal recessive Stargardt disease. methods: A cohort of eight siblings was identified for study. Four of these individuals were diagnosed with Stargardt disease based on clinical evaluation and fluorescein angiography. Blood samples were obtained from seven of eight siblings, including all those affected. All 50 exons of the ABCR gene were analyzed by single-stranded confirmation polymorphism analysis, followed by direct sequencing of observed variants, to identify mutations in the ABCR gene. RESULTS: We identified a previously unreported kindred of eight siblings, four of whom had mutations in both of their ABCR alleles. A previously described G-to-C transversion of nucleotide 2588, predicting a Gly863Ala amino acid substitution, and a novel G-to-A transition of nucleotide 161, resulting in a Cys54Tyr substitution, were identified. These mutations co-segregated with the affected members of this family. Three of the siblings demonstrated clinical features characteristic of classic Stargardt disease, with bilateral regions of macular atrophy associated with yellow-white "flavimaculatus" flecks in the posterior pole at the level of the retinal pigment epithelium. The fourth affected sibling showed features of early Stargardt disease, with a beaten-bronze appearance to both maculas, as well as perimacular flecks. In all four affected patients, fluorescein angiography showed a characteristic peripheral dark choroid. CONCLUSIONS: We have identified both a previously described and a novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. In-depth knowledge of the ABCR mutation spectrum in patients with Stargardt disease will provide for more efficient screening and may provide potential therapies for Stargardt disease and other retinal diseases.
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ranking = 1
keywords = retinal disease
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2/6. A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.

    PURPOSE: To report the molecular characterization of a novel VMD2 mutation causing a Best macular dystrophy sporadic case. methods: All family members underwent ophthalmologic examination and genetic testing by single strand conformation polymorphism analysis and direct sequencing of the VMD2 gene. RESULTS: A single T to G transition at nucleotide 663 was identified in one of the VMD2 gene copies of the patient, which results in a Cys to Trp substitution at position 221 in the corresponding protein (C221W). sequence analysis of the VMD2 exon 6 of both parents of the patient did not reveal any mutation. CONCLUSION: These data confirm the involvement of the VMD2 gene in Best macular dystrophy onset, even in sporadic cases of the disease, pointing out the relevance of molecular analysis in the diagnosis of this degenerative retinal disease.
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ranking = 1
keywords = retinal disease
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3/6. The golden tapetal sheen reflex in retinal disease.

    A mother and son with dominant cone dystrophy manifested the retinal reflexes seen in Oguchi's disease (mother) and the carrier female of X-linked retinitis pigmentosa (son). Another patient with cone dystrophy (simplex) showed localized areas of a golden reflex in each eye. A patient with juvenile macular dystrophy exhibited a diffuse golden-orange reflex throughout the posterior pole. The latter two patients did not have the Mizuo phenomenon.
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ranking = 4
keywords = retinal disease
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4/6. Hereditary macular dystrophies in relation to radionuclide ocular scintigraphy.

    Radionuclide ocular scintigraphy was investigated to determine whether it could detect blood-retinal barrier disruption secondary to retinal disease. patients were examined who had hereditary macular dystrophies and good correlations were found of the dynamic and equilibrium results obtained on scintigraphy with the clinical disease state. This test may hold promise as another measurement of the disruption of ocular physiology in retinal diseases.
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ranking = 2
keywords = retinal disease
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5/6. Routine ERG recording using medium frequency flicker stimulus.

    A medium frequency flicker stimulus of 10 Hz is evaluated in routine clinical ERG recording in detecting cone disorders. Tested on a number of normal eyes and on eyes with confirmed or suspected retinal disease it appears to be very useful as a complement to the standard program with the Krakau-Ohman apparatus. It yields an easily recordable and quantified response.
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ranking = 1
keywords = retinal disease
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6/6. Temporal modulation transfer function in patients with retinal diseases.

    The temporal modulation transfer function (temporal MTF) was measured in normal controls and in patients with various retinal diseases. Temporal MTF of controls showed band-pass filter properties, having a peak sensitivity at about 10 Hz at 1,000 Troland of retinal luminance. As the retinal luminance was reduced, the sensitivity decreased first at high temporal frequencies; then the peak sensitivity decreased, and finally at low temporal frequencies the sensitivity decreased and the peak shifted to the left. In retinal diseases, abnormal temporal MTFs were detected, and the curves were very similar to those of normal controls when retinal luminance was reduced. These patterns were not specific to any retinal diseases, and the severity of the conditions seemed to determine the pattern.
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ranking = 7
keywords = retinal disease
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