INDEX. Genetics. French poodle progressive rod-cone degeneration,

Transcription

1 INDEX Acuity in Stargardt's macular dystrophy, ADRP (Autosomal dominant retinitis pigmentosa), see Retinitis pigmentosa and Genetics afgf, 294, 296 Age-related maculopathy, see Macular degeneration Age-related retinal degeneration, see Macular degeneration, age-related Albino rat F344, light damage, 294 role of heat shock protein, 70, 310 Sprague-Dawley, AMD (Age-related macular degeneration), see Macular degeneration, age-related ARRP (Autosomal recessive retinitis pigmentosa), see Retinitis pigmentosa and Genetics BDNF, 294, bfgf, Briard dog docosahexaenoic acid, retinal degeneration, Briard lipid retinopathy, Bruch's membrane genetics of macular degeneration, age-related, 35 laser, 304 lipofuscin, 4, 6, 10, 12 Malattia leventinese, 49 retinoid reaction products, 15, 20 CAR, see paraneoplastic retinopathy Central progressive retinal atrophy (cpra), Chicken C ~ F, 2 9 4, Cones number required to "see," Congenital night blindness, Congenital night blindness with severely reduced day vision, Cyclic GMP phosphodiesterase (POE) expression of ~ subunit in, nonsense mutation in ~ subunit gene in, Cynomolgus monkey retinal photic injury, DHA (Docosahexaenoic acid) in Abyssinian cats, 287 inadrp, 287 in Briard dog, in human, 287 in inherited retina! degeneration, in miniature poodles, 287 in Usher's syndrome, 287 in X-linked RP, 287 synthesis ofdha, trafficking ofdha, transport and metabolism, Dog Briard docosahexaenoic acid, retinal degeneration, French poodle Irish setter rod/cone dysplasia 1 (red1), 253 Drusen genetics of macular degeneration, age-related, macular degeneration, age related, 3-5, 7-8, 12 Malattia leventinese, 49 retinoid reaction products, 15, 20 Electroretinography ocular finding in patients with ADRP, 105 French poodle Genetics autosomal dominant macular degeneration linkage analysis in Malattia leventinese, autosomal dominant RP definition, 211 docosahexaenoic acid, 287 ocular findings in patients with, mutations in, type I, 103,

2 Genetics (Cont'd) type 11,103 autosomal recessive congenital blindness LCA, autosomal recessive RP, gene symbol and terminology, macular degeneration, X-linked Norrie disease, RP3 gene, Growth factors afgf, 294, 296 BDNF, 294, bfgf, CN11F,294, IGF-II, 294, 296 I L - 294, 1 ~, 296 Nf-3, 294, 296 as therapeutic agent, Heat shock protein role in photoreceptor cell survival, Heat shock protein (Cont'd) hsp70 distribution in retina, hyperthermia differentially affects retinal hsp70 levels, Human interphotoreceptor retinoid-binding protein promoter, IGF-II, I L - 294, 1 ~, 296 Irish setter rod/cone dysplasia 1 (rcdl), 253 Laser effects on photoreceptor degeneration, LCA, see Leber's congenital amaurosis Leber's congenital amaurosis, Lipofuscin macular degeneration, age-related, 3-14 Low density lipoprotein in dog with retinal degeneration, 285 Macular degeneration RDS gene mutations, stop, 56 arginine 172 glutamine, arginine 172 tryptophan, 56 Macular degeneration, age-related genetics of, clinical diagnosis, 36 computer simulations, DNA genotyping, 39 epidemiology, 36 genetic analysis and modeling, 38 linkage analysis in Malattia leventinese, linkage analysis, 50 lipofuscin in aged and, 3-14 fluorescence of, 4, 6, 8-11 in vitro measurements of, 7-8 in vivo measurements of, 8-10 lysosomes and, 5 methods in, 6 Macular degeneration (Cont'd) photoreceptors, 3, 5, retinoid reaction products in, influence of vitamin A, 20 light as a predisposing factor, 20 lysosomal protease, 20 lysosomotrophic theory of lipofuscinogenesis, RPE age pigments aud their fluorophores, suggested mechanism of function, zinc as a predisposing factor, 21 Stargardt's macular dystrophy, Macular dystrophy, see macular degeneration MAR, see Paraneoplastic retinopathy Morphometric aud immunopathologic study, Mouse rd ~ subunit, PDE gene, 252 locus, rd-3 expressivity of rd-3 retinal degeneration, rds cloning the rds mrna and gene, expression of ~ subunit of cgmp PDE aud a human rds gene (RDS ), 226 molecular characterization of rds mouse mutation, rds protein, transgenic rescue of rds, transgenic ADRP, generation of, influence of SV40 Antigen, mouse model for mutation in rhodopsin gene, Muller cells, 305 retinal photic injury, 332 Murine model rd-3, Naphthalene effect on rabbit retina, Neural retina-specific gene encoding a putative DNA binding protein, Norrie disease gene, NT-3, Opsin photoreceptor cell death directed by mouse opsin promoter, Paraneoplastic retinopathy cancer-associated retinopathy, 335, melanoma-associated retinopathy, PeripherinlRDS ADRP patients, 202,

3 Photoreceptors laser effects on, number required to "see," role of heat shock protein in cell survival, in Stargardt's macular dystrophy, Pig mutated rhodopsin gene, , 215 Primates cynomolgus monkeys retinal photic injury, Proline Rabbit naphthalene on retina of, Rat albino rat, see albino rat ReS growth factor as possible therapeutic agent, laser effects on photoreceptor degeneration, rds expression of ~ subunit of cgmp PDE and (l molecular characterization of rds mouse mutation, cloning the rds mrna and gene, human rds gene (RDS ), 226 rds protein, transgenic rescue of rds, RDS gene mutation of, peripherinlrds linked ADRP, 68-69, 202, 211 Retina examination of the human retina, effects of naphthalene on rabbit retina, Retinal degeneration autosomal dominant RP definition, 211 ocular findings in patients with, type I, 103, 121 type II, 103 autosomal recessive congenital blindness LeA, autosomal recessive RP, in Briard dog, light and electron microscopy findings, plasma biochemistry, 285 cutaneous melanoma-associated retinopathy, biochemistry,337-34o immunocytochemistry, Retinal degeneration (Cont'd) visual function test, docosahexaenoic acid in Abyssinian cats, levels of, 287 in Briard dog, levels of, in human, levels of, 287 synthesis of, trafficking of, transport and metabolism of, in Usher's syndrome, 287 effects of naphthalene on the retina of rabbit, clinical picture, morphological observations, ' culture system, effects ofretinoids in vitro, expression of cgmp PDE gene, expression of wild-type or mutant transducin, mouse rod opsin 5' regulatory sequence, retinoids in the retina, expressivity of rd-3 dependent on background strain, electroretinograms, fundusappearance,278 retina evaluation, 275 gene symbol and terminology, gene symbol for retinal disease, how gene symbols are determined, terms for mutation and genetic variation, growth factor as possible therapeutic agents for, light damage model, 294 survival promoting factors, laser effects on photoreceptor degeneration in ReS rat, qualitative description, quantitative description, Leber's congenital amaurosis, definition, 143 linkage study, phenotypes of affected individuals, 144 physical mapping by in situ hybridization, 145 morphometric and immunopathologic study of retinal photic injury in primate, clinical and histopathologic study, immunocytochemical study, 327 light exposure, 322 morphometric measurements, 323 morphometric study, neural retina-specific gene encoding a putative DNA binding protein, chromosomal localization of subtracted clones, mapped autosomal eye disease and genes, 173 neural retinal leucine zipper protein, subtraction cloning, nonsense mutation in ~ subunit gene of cgmp phosphodiesterase, rcd 1 Irish setter dog,

4 Retinal degeneration (Cant'd) rd mouse, 252 Norrie disease gene, clinical spectrum, 136 cloning the gene, mutation analysis, 139 Norrie protein, role of heat shock protein in photoreceptor cell survival, hsp70 distribution in retina, hyperthermia differentially affects retinal hsp70 levels, systemic alterations in docosahexaenoic acid metabolism in, synthesis ofdha in liver, trafficking ofdha, transport and metabolism of DHA lipids, Retinal development influence of SV40 T-antigen in transgenic mice, mapping of gene for LeA, mouse opsin promoter, retinoid-blinding protein promoter, Retinal pigment epithelium human, 4-5 KSS, 193 lipofuscin in aged and AMD eyes, 3-14 retinoid reaction products in AMD, RPP, Retinal pigment epithelium dystrophy (RPED), Retinitis pigmentosa ADRP in expression of normal and mutated opsin gene, murine opsin gene, photoreceptor cell degeneration, clinical features of ADRP associated with Gly- 188-Arg mutation, clinical parameters, 98 electroretinographic analysis, 94 investigation of family for ADRP, 92 patient results, visual field testing, definition, 181 exclusion mapping the ARRP locus, fluorescein angiography, fundus examination, geographical origins, 80-83, 85-86, 89 patients and methods, 80 genetic heterogeneity in, ADRP loci on chromosome 7 and 8, further locus heterogeneity in ADRP, 70 peripherinlrds linked ADRP, 68 rhodopsin linked ADRP chromosome 3q, hetcrogcncity of Usher's Syndrome clinical studies, genetic heterogeneity, identification of candidate gene, linkage analysis of Usher's syndrome I, 129- m localization of RP3 gene, Retinitis pigmentosa (Cont'd) ocular fmding in patients with ADRP, electrophysical findings, III electroretinography, 105 ocular finding, ophthalmologic histories, 106 perimetry, 104, 108 psychophysical findings, clinical examination, clinical results, cysteine 118/119 deletion, 55 retinopathia pigmentosa plus-examination of the human retina, disease-specific ultrastructural pathology, 191 non-specific ultrastructural pathology, 191 RP3 gene, screening of, Japanese family with ADRP due to Pro-347- Leu, 186 nonradioactive single strand conformation polymorphism, putative polymorphism in exon 1, 183 transgenic mouse model caused by mutation in the rhodopsin gene, Retinoid reaction products in AMD, Rhodopsin clinical features of autosomal dominant RP associated with phenotype of carboxyl-tennina! rhodopsin transgenic mouse model caused by mutation in the mouse model for, Rod levels of DHA in Abyssinian cats with, 287 levels of DHA in miniature poodles with, 287 Simian virus 40, Stargardt's macular dystrophy, counting, Therapy growth factors a possible therapeutic agent for retinal degeneration, laser effects on photoreceptor degeneration, role of heat shock protein 70, Transducin subunit of, Transgenic mouse ADRP,201-21O generation of, influence of SV 40 Antigen,

5 Transgenic mouse (Cont'd) mouse model for mutation in rhodopsin gene, Usher's syndrome docosahexaenoic acid, 287, 287, 260 linkage analysis of, type I heterogeneity of, type II definition, 127 type III definition, 127 VitaminE in dog with retinal degeneration, 285, 287 X linked disease Norrie disease, retinitis pigmentosa docosahexaenoic acid, 287 RP3 gene, Zinc predisposing factor of, 21 deficiencies of, 35 Vitamin A in dog with retinal degeneration, 285 influence in retinoid reaction product, 20 lipofuscin, 11 retinoid, 355,