The Experts below are selected from a list of 189 Experts worldwide ranked by ideXlab platform
Robert N Fariss - One of the best experts on this subject based on the ideXlab platform.
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histopathology of the human retina in Retinitis pigmentosa
Progress in Retinal and Eye Research, 1998Co-Authors: Ann H. Milam, Zongyi Li, Robert N FarissAbstract:: The term, 'Retinitis pigmentosa', refers to a heterogeneous group of inherited diseases that cause degeneration of rod and cone photoreceptors in the human retina. Loss of photoreceptor cells is usually followed by alterations in the retinal pigment epithelium and retinal glia. Ultimately, degenerative changes occur in the inner retinal neurons, blood vessels, and optic nerve head. This chapter provides background information on the genetics of Retinitis pigmentosa and a summary of the histopathologic alterations in human retinas caused by this disease. Detailed information is provided on the effects of the primary disease process on the rod photoreceptors and changes in the other retinal components, all of which are important considerations for understanding and developing therapies for Retinitis pigmentosa.
Ann H. Milam - One of the best experts on this subject based on the ideXlab platform.
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Concentric Retinitis pigmentosa: clinicopathologic correlations.
Experimental Eye Research, 2001Co-Authors: Ann H. Milam, Elaine De Castro, Julie E. Smith, Waixing Tang, Sinoj K John, Michael B. Gorin, Edwin M. Stone, Gustavo D. Aguirre, Samuel G. JacobsonAbstract:Progressive concentric (centripetal) loss of vision is one pattern of visual field loss in Retinitis pigmentosa. This study provides the first clinicopathologic correlations for this form of Retinitis pigmentosa. A family with autosomal dominant concentric Retinitis pigmentosa was examined clinically and with visual function tests. A post-mortem eye of an affected 94 year old family member was processed for histopathology and immunocytochemistry with retinal cell specific antibodies. Unrelated simplex/multiplex patients with concentric Retinitis pigmentosa were also examined. Affected family members of the eye donor and patients from the other families had prominent peripheral pigmentary retinopathy with more normal appearing central retina, good visual acuity, concentric field loss, normal or near normal rod and cone sensitivity within the preserved visual field, and reduced rod and cone electroretinograms. The eye donor, at age 90, had good acuity and function in a central island. Grossly, the central region of the donor retina appeared thinned but otherwise normal, while the far periphery contained heavy bone spicule pigment. Microscopically the central retina showed photoreceptor outer segment shortening and some photoreceptor cell loss. The mid periphery had a sharp line of demarcation where more central photoreceptors were near normal except for very short outer segments and peripheral photoreceptors were absent. Rods and cones showed abrupt loss of outer segments and cell death at this interface. It is concluded that concentric Retinitis pigmentosa is a rare but recognizable phenotype with slowly progressive photoreceptor death from the far periphery toward the central retina. The disease is retina-wide but shows regional variation in severity of degeneration; photoreceptor death is severe in the peripheral retina with an abrupt edge between viable and degenerate photoreceptors. Peripheral to central gradients of unknown retinal molecule(s) may be defective or modify photoreceptor degeneration in concentric Retinitis pigmentosa.
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histopathology of the human retina in Retinitis pigmentosa
Progress in Retinal and Eye Research, 1998Co-Authors: Ann H. Milam, Zongyi Li, Robert N FarissAbstract:: The term, 'Retinitis pigmentosa', refers to a heterogeneous group of inherited diseases that cause degeneration of rod and cone photoreceptors in the human retina. Loss of photoreceptor cells is usually followed by alterations in the retinal pigment epithelium and retinal glia. Ultimately, degenerative changes occur in the inner retinal neurons, blood vessels, and optic nerve head. This chapter provides background information on the genetics of Retinitis pigmentosa and a summary of the histopathologic alterations in human retinas caused by this disease. Detailed information is provided on the effects of the primary disease process on the rod photoreceptors and changes in the other retinal components, all of which are important considerations for understanding and developing therapies for Retinitis pigmentosa.
Zongyi Li - One of the best experts on this subject based on the ideXlab platform.
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histopathology of the human retina in Retinitis pigmentosa
Progress in Retinal and Eye Research, 1998Co-Authors: Ann H. Milam, Zongyi Li, Robert N FarissAbstract:: The term, 'Retinitis pigmentosa', refers to a heterogeneous group of inherited diseases that cause degeneration of rod and cone photoreceptors in the human retina. Loss of photoreceptor cells is usually followed by alterations in the retinal pigment epithelium and retinal glia. Ultimately, degenerative changes occur in the inner retinal neurons, blood vessels, and optic nerve head. This chapter provides background information on the genetics of Retinitis pigmentosa and a summary of the histopathologic alterations in human retinas caused by this disease. Detailed information is provided on the effects of the primary disease process on the rod photoreceptors and changes in the other retinal components, all of which are important considerations for understanding and developing therapies for Retinitis pigmentosa.
Jeremy Nathans - One of the best experts on this subject based on the ideXlab platform.
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rhodopsin mutations in autosomal dominant Retinitis pigmentosa
Proceedings of the National Academy of Sciences of the United States of America, 1991Co-Authors: Ching Hwa Sung, Gerald A. Fishman, John R. Heckenlively, Samuel G. Jacobson, Peter Gouras, Carol M Davenport, Jill C Hennessey, Irene H Maumenee, Rodney Nowakowski, Jeremy NathansAbstract:Abstract DNA samples from 161 unrelated patients with autosomal dominant Retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of Retinitis pigmentosa in 174 out of 179 individuals tested in 17 families. The mutations were absent from 118 control subjects with normal vision.
Samuel G. Jacobson - One of the best experts on this subject based on the ideXlab platform.
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Treatment possibilities for Retinitis pigmentosa.
The New England Journal of Medicine, 2010Co-Authors: Samuel G. Jacobson, Artur V. CideciyanAbstract:A study involving mouse models of Retinitis pigmentosa examines one of four possible approaches to its treatment in humans.
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Concentric Retinitis pigmentosa: clinicopathologic correlations.
Experimental Eye Research, 2001Co-Authors: Ann H. Milam, Elaine De Castro, Julie E. Smith, Waixing Tang, Sinoj K John, Michael B. Gorin, Edwin M. Stone, Gustavo D. Aguirre, Samuel G. JacobsonAbstract:Progressive concentric (centripetal) loss of vision is one pattern of visual field loss in Retinitis pigmentosa. This study provides the first clinicopathologic correlations for this form of Retinitis pigmentosa. A family with autosomal dominant concentric Retinitis pigmentosa was examined clinically and with visual function tests. A post-mortem eye of an affected 94 year old family member was processed for histopathology and immunocytochemistry with retinal cell specific antibodies. Unrelated simplex/multiplex patients with concentric Retinitis pigmentosa were also examined. Affected family members of the eye donor and patients from the other families had prominent peripheral pigmentary retinopathy with more normal appearing central retina, good visual acuity, concentric field loss, normal or near normal rod and cone sensitivity within the preserved visual field, and reduced rod and cone electroretinograms. The eye donor, at age 90, had good acuity and function in a central island. Grossly, the central region of the donor retina appeared thinned but otherwise normal, while the far periphery contained heavy bone spicule pigment. Microscopically the central retina showed photoreceptor outer segment shortening and some photoreceptor cell loss. The mid periphery had a sharp line of demarcation where more central photoreceptors were near normal except for very short outer segments and peripheral photoreceptors were absent. Rods and cones showed abrupt loss of outer segments and cell death at this interface. It is concluded that concentric Retinitis pigmentosa is a rare but recognizable phenotype with slowly progressive photoreceptor death from the far periphery toward the central retina. The disease is retina-wide but shows regional variation in severity of degeneration; photoreceptor death is severe in the peripheral retina with an abrupt edge between viable and degenerate photoreceptors. Peripheral to central gradients of unknown retinal molecule(s) may be defective or modify photoreceptor degeneration in concentric Retinitis pigmentosa.
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rhodopsin mutations in autosomal dominant Retinitis pigmentosa
Proceedings of the National Academy of Sciences of the United States of America, 1991Co-Authors: Ching Hwa Sung, Gerald A. Fishman, John R. Heckenlively, Samuel G. Jacobson, Peter Gouras, Carol M Davenport, Jill C Hennessey, Irene H Maumenee, Rodney Nowakowski, Jeremy NathansAbstract:Abstract DNA samples from 161 unrelated patients with autosomal dominant Retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of Retinitis pigmentosa in 174 out of 179 individuals tested in 17 families. The mutations were absent from 118 control subjects with normal vision.
