INDEX Acuity in Stargardt's macular dystrophy, 25-34 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 F344,294-295 light damage, 294 role of heat shock protein, 70, 310 Sprague-Dawley, 294-296 AMD (Age-related macular degeneration), see Macular degeneration, age-related ARRP (Autosomal recessive retinitis pigmentosa), see Retinitis pigmentosa and Genetics BDNF, 294, 296-297 bfgf,293-298 Briard dog docosahexaenoic acid, 286-288 retinal degeneration, 281-2 Briard lipid retinopathy, 281-2 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), 281-2 Chicken C ~ F, 2 9 4, 2 9 6-2 9 7 Cones number required to "see," 25-34 Congenital night blindness, 281-2 Congenital night blindness with severely reduced day vision, 281-2 Cyclic GMP phosphodiesterase (POE) expression of ~ subunit in, 231-243 nonsense mutation in ~ subunit gene in, 251-258 Cynomolgus monkey retinal photic injury, 321-333 DHA (Docosahexaenoic acid) in Abyssinian cats, 287 inadrp, 287 in Briard dog, 286-287 in human, 287 in inherited retina! degeneration, 259-271 in miniature poodles, 287 in Usher's syndrome, 287 in X-linked RP, 287 synthesis ofdha, 261-263 trafficking ofdha, 265-266 transport and metabolism, 263-264 Dog Briard docosahexaenoic acid, 286-288 retinal degeneration, 281-2 French poodle Irish setter rod/cone dysplasia 1 (red1), 253 Drusen genetics of macular degeneration, age-related, 35-36 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, 49-52 autosomal dominant RP definition, 211 docosahexaenoic acid, 287 ocular findings in patients with, 103-114 mutations in, 115-125 type I, 103, 121 361
Genetics (Cont'd) type 11,103 autosomal recessive congenital blindness LCA,143-152 autosomal recessive RP, 127-133 gene symbol and terminology, 161-170 macular degeneration, 35-46 X-linked Norrie disease, 135-142 RP3 gene, 153-160 Growth factors afgf, 294, 296 BDNF, 294, 296-297 bfgf, 293-298 CN11F,294,296-297 IGF-II, 294, 296 I L - 294, 1 ~, 296 Nf-3, 294, 296 as therapeutic agent, 293-298 Heat shock protein role in photoreceptor cell survival, 309-320 Heat shock protein (Cont'd) hsp70 distribution in retina, 311-312 hyperthermia differentially affects retinal hsp70 levels, 312-316 Human interphotoreceptor retinoid-binding protein promoter, 246-247 IGF-II,294-296 I L - 294, 1 ~, 296 Irish setter rod/cone dysplasia 1 (rcdl), 253 Laser effects on photoreceptor degeneration, 299-308 LCA, see Leber's congenital amaurosis Leber's congenital amaurosis, 143-152 Lipofuscin macular degeneration, age-related, 3-14 Low density lipoprotein in dog with retinal degeneration, 285 Macular degeneration RDS gene mutations, 53-59 258 stop, 56 arginine 172 glutamine, 55-56 arginine 172 tryptophan, 56 Macular degeneration, age-related genetics of, 35-47 clinical diagnosis, 36 computer simulations, 39-45 DNA genotyping, 39 epidemiology, 36 genetic analysis and modeling, 38 linkage analysis in Malattia leventinese, 49-52 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, 15-22 influence of vitamin A, 20 light as a predisposing factor, 20 lysosomal protease, 20 lysosomotrophic theory of lipofuscinogenesis, 19-21 RPE age pigments aud their fluorophores, 16-17 suggested mechanism of function, 17-19 zinc as a predisposing factor, 21 Stargardt's macular dystrophy, 25-34 Macular dystrophy, see macular degeneration MAR, see Paraneoplastic retinopathy Morphometric aud immunopathologic study, 321-333 Mouse rd ~ subunit, PDE gene, 252 locus, 83-84 rd-3 expressivity of rd-3 retinal degeneration, 273-280 rds cloning the rds mrna and gene, 219-220 expression of ~ subunit of cgmp PDE aud a human rds gene (RDS ), 226 molecular characterization of rds mouse mutation, 219-230 rds protein, 226-228 transgenic rescue of rds, 220-225 transgenic ADRP, 201-210 generation of, 220-225 influence of SV40 Antigen, 243-250 mouse model for mutation in rhodopsin gene, 211-217 Muller cells, 305 retinal photic injury, 332 Murine model rd-3, 273-280 Naphthalene effect on rabbit retina, 343-353 Neural retina-specific gene encoding a putative DNA binding protein, 171-180 Norrie disease gene, 135-142 NT-3,294-296 Opsin photoreceptor cell death directed by mouse opsin promoter, 243-250 Paraneoplastic retinopathy cancer-associated retinopathy, 335, 340-341 melanoma-associated retinopathy, 335-342 PeripherinlRDS ADRP patients, 202, 211 362
Photoreceptors laser effects on, 299-308 number required to "see," 25-34 role of heat shock protein in cell survival, 309-320 in Stargardt's macular dystrophy, 25-34 Pig mutated rhodopsin gene, 212-213, 215 Primates cynomolgus monkeys retinal photic injury, 321-333 Proline Rabbit naphthalene on retina of, 343-353 Rat albino rat, see albino rat ReS growth factor as possible therapeutic agent, 293-298 laser effects on photoreceptor degeneration, 299-308 rds expression of ~ subunit of cgmp PDE and (l molecular characterization of rds mouse mutation, 219-230 cloning the rds mrna and gene, 219-220 human rds gene (RDS ), 226 rds protein, 226-228 transgenic rescue of rds, 220-225 RDS gene mutation of, 53-59 peripherinlrds linked ADRP, 68-69, 202, 211 Retina examination of the human retina, 189-198 effects of naphthalene on rabbit retina, 343-353 Retinal degeneration autosomal dominant RP definition, 211 ocular findings in patients with, 103-114 type I, 103, 121 type II, 103 autosomal recessive congenital blindness LeA, 143-152 autosomal recessive RP, 127-133 in Briard dog, 281-2 light and electron microscopy findings, 283-285 plasma biochemistry, 285 cutaneous melanoma-associated retinopathy, 335-342 biochemistry,337-34o immunocytochemistry, 336-340 Retinal degeneration (Cont'd) visual function test, 336-337 docosahexaenoic acid in Abyssinian cats, levels of, 287 in Briard dog, levels of, 286-287 in human, levels of, 287 synthesis of, 261-263 trafficking of, 265-266 transport and metabolism of, 263-264 in Usher's syndrome, 287 effects of naphthalene on the retina of rabbit, 343-353 clinical picture, 346-347 morphological observations, 347-351 ' culture system, 356-357 effects ofretinoids in vitro, 357-359 expression of cgmp PDE gene, 234-235 expression of wild-type or mutant transducin, 235-238 mouse rod opsin 5' regulatory sequence, 232-234 retinoids in the retina, 355-356 expressivity of rd-3 dependent on background strain, 273-280 electroretinograms, 276-278 fundusappearance,278 retina evaluation, 275 gene symbol and terminology, 161-170 gene symbol for retinal disease, 162-165 how gene symbols are determined, 161-162 terms for mutation and genetic variation, 165-167 growth factor as possible therapeutic agents for, 293-298 light damage model, 294 survival promoting factors, 294-296 laser effects on photoreceptor degeneration in ReS rat, 299-308 qualitative description, 301-304 quantitative description, 304-305 Leber's congenital amaurosis, 143-152 definition, 143 linkage study, 145-146 phenotypes of affected individuals, 144 physical mapping by in situ hybridization, 145 morphometric and immunopathologic study of retinal photic injury in primate, 321-333 clinical and histopathologic study, 323-327 immunocytochemical study, 327 light exposure, 322 morphometric measurements, 323 morphometric study, 328-330 neural retina-specific gene encoding a putative DNA binding protein, 171-180 chromosomal localization of subtracted clones, 175-176 mapped autosomal eye disease and genes, 173 neural retinal leucine zipper protein, 176-179 subtraction cloning, 172-175 nonsense mutation in ~ subunit gene of cgmp phosphodiesterase, 251-258 rcd 1 Irish setter dog, 253 363
Retinal degeneration (Cant'd) rd mouse, 252 Norrie disease gene, 135-142 clinical spectrum, 136 cloning the gene, 136-138 mutation analysis, 139 Norrie protein, 140-141 role of heat shock protein in photoreceptor cell survival, 309-320 hsp70 distribution in retina, 311-312 hyperthermia differentially affects retinal hsp70 levels, 312-316 systemic alterations in docosahexaenoic acid metabolism in, 259-271 synthesis ofdha in liver, 261-263 trafficking ofdha, 265-266 transport and metabolism of DHA lipids, 263-264 Retinal development influence of SV40 T-antigen in transgenic mice, 243-250 mapping of gene for LeA, 146-149 mouse opsin promoter, 243-250 retinoid-blinding protein promoter, 246-247 Retinal pigment epithelium human, 4-5 KSS, 193 lipofuscin in aged and AMD eyes, 3-14 retinoid reaction products in AMD, 15-22 RPP,189-198 Retinal pigment epithelium dystrophy (RPED), 281-2 Retinitis pigmentosa ADRP in expression of normal and mutated opsin gene, 205-206 murine opsin gene, 202-205 photoreceptor cell degeneration, 206-208 clinical features of ADRP associated with Gly- 188-Arg mutation, 91-101 clinical parameters, 98 electroretinographic analysis, 94 investigation of family for ADRP, 92 patient results, 94-97 visual field testing, 92-94 definition, 181 exclusion mapping the ARRP locus, 83-89 fluorescein angiography, 81-83 fundus examination, 81-82 geographical origins, 80-83, 85-86, 89 patients and methods, 80 genetic heterogeneity in, 63-77 ADRP loci on chromosome 7 and 8, 69-70 further locus heterogeneity in ADRP, 70 peripherinlrds linked ADRP, 68 rhodopsin linked ADRP chromosome 3q, 64-67 hetcrogcncity of Usher's Syndrome clinical studies, 128-129 genetic heterogeneity, 153-154 identification of candidate gene, 157-158 linkage analysis of Usher's syndrome I, 129- m localization of RP3 gene, 154-157 Retinitis pigmentosa (Cont'd) ocular fmding in patients with ADRP, 103-114 electrophysical findings, III electroretinography, 105 ocular finding, 106-107 ophthalmologic histories, 106 perimetry, 104, 108 psychophysical findings, 108-111 clinical examination, 116-117 clinical results, 117-121 cysteine 118/119 deletion, 55 retinopathia pigmentosa plus-examination of the human retina, 189-198 disease-specific ultrastructural pathology, 191 non-specific ultrastructural pathology, 191 RP3 gene, 153-160 screening of, 181-188 Japanese family with ADRP due to Pro-347- Leu, 186 nonradioactive single strand conformation polymorphism, 182-183 putative polymorphism in exon 1, 183 transgenic mouse model caused by mutation in the rhodopsin gene, 211-217 Retinoid reaction products in AMD, 15-22 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, 211-217 Rod levels of DHA in Abyssinian cats with, 287 levels of DHA in miniature poodles with, 287 Simian virus 40, 243-250 Stargardt's macular dystrophy, 25-34 counting, 28-31 Therapy growth factors a possible therapeutic agent for retinal degeneration, 293-298 laser effects on photoreceptor degeneration, 299-308 role of heat shock protein 70, 309-320 Transducin subunit of, 231-242 Transgenic mouse ADRP,201-21O generation of, 220-225 influence of SV 40 Antigen, 243-250 364
Transgenic mouse (Cont'd) mouse model for mutation in rhodopsin gene, 211 217 Usher's syndrome docosahexaenoic acid, 287, 287, 260 linkage analysis of, 129 131 type I heterogeneity of, 127 133 type II definition, 127 type III definition, 127 VitaminE in dog with retinal degeneration, 285, 287 X linked disease Norrie disease, 135 142 retinitis pigmentosa docosahexaenoic acid, 287 RP3 gene, 153 160 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, 359 365