Cases reported "Retinal Degeneration"

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1/12. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

    mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE) and retinal degeneration. We screened the human orthologue, MERTK, located at 2q14.1 (ref. 10), in 328 dna samples from individuals with various retinal dystrophies and found three mutations in three individuals with retinitis pigmentosa (RP). Our findings are the first conclusive evidence implicating the RPE phagocytosis pathway in human retinal disease.
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2/12. Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings.

    OBJECTIVE: Syndromes with genetically determined retinal diseases and concurrent multiple neurologic abnormalities are rare. Kjellin described an autosomal recessive entity with spastic paraplegia, mental retardation, amyotrophia, and macular dystrophy. We sought to further characterize the retinal phenotype and to contrast fundus changes and the genotype to Stargardt's disease in a young patient with progressive Kjellin's syndrome. DESIGN: Observational case report and family genetic study. patients: One affected and 11 unaffected members of a family with Kjellin's syndrome were investigated. methods: Complete ophthalmologic and neurologic examinations were performed, including electrophysiologic evaluation, color vision assessment, fundus autofluorescence, and fluorescence angiography. To investigate a possible role of the ABCA4 gene in the etiology of the macular changes, the entire 50 coding exons, including flanking intronic sequences of the patient, were analyzed by direct sequencing. MAIN OUTCOME MEASURES: The patient was evaluated for her symptoms, retinal function, fundus autofluorescence, angiography, and mutations in the ABCA4 gene. RESULTS: A 27-year-old female patient initially was seen with trembling of her right hand. Subsequently, progressive paraspasticity occurred, and a diagnostic workup revealed mild mental retardation. Biomicroscopy disclosed symmetric multiple round yellowish flecks at the level of the retinal pigment epithelium scattered at the posterior pole, which showed increased intrinsic fluorescence in the center, with a halo of reduced autofluorescence. Multifocal electroretinography elicited abnormal responses in the macular area in the presence of normal Ganzfeld electroretinography recordings. In gene mapping, several common variants were identified, although none seem to be associated with the disease features. CONCLUSIONS: Macular changes in Kjellin's syndrome share phenotypic characteristics with Stargardt's disease, although there are differences with regard to appearance, distribution, angiographic, and autofluorescence behavior of the retinal flecks. Ophthalmologic examination is prudent in patients with similar neurologic deficits, because it is essential for the diagnosis and because visual symptoms may be absent even in the presence of obvious and widespread retinal manifestations. The abnormal gene product in Kjellin's syndrome seems to cause progressive dysfunction in various neuronal tissues but seems to be distinct from the major defect underlying the Stargardt's disease phenotype.
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keywords = retinal disease
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3/12. Management of incontinentia pigmenti: a case of monolateral preretinal fibrovascular proliferations adjacent to snail-track degeneration areas.

    PURPOSE: To report a case of monolateral preretinal fibrovascularproliferations in a young adult woman, who had suffered from incontinentia pigmenti (IP) during her first month of life. methods: Case report. RESULTS: Circumscribed preretinal fibrovascular proliferations, adjacent to a mid-peripheral area of snail track degeneration, were occasionally diagnosed in the left eye of an asymptomatic 18-year-old white female. Careful ocular examination did not reveal any cause of the monolateral vascular abnormalities observed in the posterior segment. A detailed medical history brought to light that the patient has suffered infantile IP, like four other females in her family. The patient did not present any evident malformation of teeth, nails, skeleton or hair. A cytogenetic linkage study documented a chromosomal aberration in the Xq28 band, which confirmed the diagnosis of familial IP (type 2). The fluorescein angiography findings clearly illustrated the minimal retinal involvement in the course of IP. CONCLUSIONS: This case shows that a wide range of etiologies must be considered in patients presenting monolateral preretinal fibrovascular proliferations. To correctly manage these uncommon, inherited or acquired, retinal diseases it is better to do a mid-term follow-up, rather than operate immediately, and this enabled us to observe the natural course of the lesion, while awaiting a definitive diagnosis.
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keywords = retinal disease
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4/12. High-resolution retinal imaging of cone-rod dystrophy.

    PURPOSE: This study examines a patient with cone-rod dystrophy using high-resolution adaptive optics retinal imaging. Conventional ophthalmoscopes provide limited resolution due to their inability to overcome the eye's optical aberrations. In contrast, adaptive optics ophthalmoscopes correct these aberrations to provide noninvasive high-resolution views of the living retina. To date, adaptive optics ophthalmoscopy has been used mainly to examine the normal retina. Here we use adaptive optics ophthalmoscopy to image cone-rod dystrophy in vivo and compare these results with standard clinical tests. DESIGN: Observational case report. methods: High-resolution retinal images of a patient with cone-rod dystrophy were obtained with the University of Rochester adaptive optics flood-illuminated ophthalmoscope and the adaptive optics scanning laser ophthalmoscope located at the University of Houston and compared with standard clinical tests, including fundus photography, Goldmann visual fields, fluorescein angiography, optical coherence tomography, electroretinography, and multifocal electroretinography. MAIN OUTCOME MEASURES: Direct measurement of cone density and diameter and comparison of adaptive optics images with standard clinical imaging and functional tests. RESULTS: Adaptive optics images were acquired at multiple retinal locations throughout a clinically detected bull's-eye lesion. Within the atrophic regions, we observed large areas devoid of wave-guiding cones. In contrast, regions that appeared relatively spared by clinical examination contained a completely tiled cone mosaic. However, in these areas the cones were abnormally large, resulting in a 6.6-fold reduction from the normal peak cone density (patient peak density: 30 100 cones/mm2, normal peak density: 199 200 cones/mm2). Multifocal electroretinography confirmed a 5.5-fold reduction in amplitude of the central peak (10.8 nanovolts/degree2 vs. 59.8 nanovolts/degree2). CONCLUSIONS: Adaptive optics ophthalmoscopy is a noninvasive technique to observe a patient's retinal pathology directly at a cellular level. It can provide a quantitative measurement of photoreceptor loss in retinal disease.
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keywords = retinal disease
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5/12. 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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keywords = retinal disease
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6/12. Retinal boundaries and visual function in gyrate atrophy.

    Three patients with gyrate atrophy of the retina and choroid underwent fundus photoperimetry, the combination of fundus photography and visual field analysis within the same instrument, to examine the correspondence between the funduscopically observed, scalloped margin of remaining retina and the functional limit of the peripheral visual field. The results suggest that near the border between remaining retina and atrophic areas, visual sensitivity falls off quite rapidly, producing perimetric isopters that conform closely to the scalloped retinal margin. In some instances, visual function can be demonstrated in islands of remaining retina that are totally surrounded by atrophic areas. This study demonstrates the usefulness of fundus photoperimetry in following the course of degenerative retinal diseases.
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keywords = retinal disease
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7/12. 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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keywords = retinal disease
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8/12. The Wagner-Stickler syndrome: a study of 22 families.

    The Wagner-Stickler syndrome is a hereditary progressive arthro-ophthalmopathy with an autosomal dominant pattern of inheritance. Affected persons may have a wide variety of ocular, orofacial, and skeletal problems. We examined 22 index patients and 68 of their relatives. Of these 90 persons (41 in the pediatric age group), 70 were found to have the syndrome. We determined the frequency of the various problems and identified several progressive features. We established an approximate age of onset in the group with known retinal disease and in the asymptomatic group identified by family screening. Although the latter group was initially more mildly affected, they were at risk to develop serious ocular problems. Screening all relatives of affected persons for nonocular features of the syndrome should permit early diagnosis in the asymptomatic group and improve the long-term prognosis.
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keywords = retinal disease
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9/12. Simulated double Bjerrum's scotomas by retinal pigment epithelium and receptor degeneration.

    A seemingly glaucomatous double Bjerrum's nerve fiber bundle defect was mimicked by pigment epithelium and receptor degeneration. The discrepancy between normal appearance of the disc and the abnormal visual field was a clue indicating need for further evaluation for retinal disease unrelated to glaucoma. Ophthalmologists should be aware of the possibility of this cause of double Bjerrum's or ring scotoma to avoid protracted workup for nonexistent neurologic disease or treatment of glaucoma.
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keywords = retinal disease
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10/12. retinal degeneration without pigment alterations in progressive external ophthalmoplegia.

    A 56-year-old black man had annular visual field defects and retinal electrophysiologic dysfunction with chronic progressive external ophthalmoplegia and no pigmentary abnormalities in the fundus. Because the association of retinal disease with neurodegenerative states has generally been based on the observation of pigmentary changes, the patient's fields were erroneously interpreted as the nerve fiber bundle defects of glaucoma.
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keywords = retinal disease
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