СПИСОК ЛИТЕРАТУРЫ

Арефьева Нарушения зрительных

функций в ранней диагностике глаукомы: Дне. ... кацд. мед. наук. - М., 1999.

Барсегян Г.Л. Пространственная контрастная чувствительность в диагностике заболеваний стгчаткн и зрительного нервл Аігтореф.

Богословский А.М., Кацнельсон Л. А., Миляв- ская Т И. и др. Клиника, диагностика и лечение наследственных юношеских макулярных дистрофий//Новости медицины и медицинской техники. — 1974. — № 28. - 26 с.

Волков В.В., Юстпова EH. О диагностике и

,. '; : ■. і - і і вариантов цветового зрения в свете новых диагностических подходов//Вестн. офтальмол. — 1995. — № 2. - С. 19-24.

Волков В.В., Шамшшюва А.М., Розенб- люм Ю.З. идр. Физиологические основы цветового зрені’я и его ііарушеннн: Сборник науч. трудов. — Мл' Руссомед, 1993. - С. 224-260.

Зольникова И. В. Роль электроретинографии и топографии цветовой чучегатгедыіо- сін в диагностике заболеваний млкулЯр_ ной области сетчатки: Дис.. каіш Меднаук. — М., 2002. - 267 с.

Золышкова И.В., Шамшшюва А.М. Колбочковые дистрофии и дисфункции/УВестн. офтальмол — 2001. — Т. 114, N° 4. — С.48-52.

Ка/іамкаров Г. Р. .Острокски М.А. Молекулярные механизмы зрительной рецепции. —М.: Наука, 2002. — 276 с.

Островский М.А. Молекулярные механизмы повреждающего действия света на структуры глаза и системы защиты от такого поврежцения//Клиническая физиология зрения. - М.: Научно-медицинская фирма «МБН». - 2002. - С.38-69.

Ю.З. Пробный набор спектральных фильтров для коррекции зрения: Пособие для врачей. - М., 1998.-43 с.

Розенблюм Ю.З., ЗакЦ.П., О М.А.

и др. Спектральные фильтры как вид лечебной коррекции//Вестн. офтальмол. - 1995.-Т. 111,№3.-С. 24-26.

Рудольф Г., Бехманн М., Бернингер Т. и др. Топографическое картирование функции сстчиткм при исітлыованим сканирующего Л;азерИОІ0 офтальмоскопа II м-последователы,с,С7И для мультифо- калькой эле*трорети ноі рафии//Вести • офтальмол.

Шамшшюва AM Лежал*'ная электрорети- ІКмрнммя в кд инике Глазных болезней1 Дис. ... д-ра >лед. наук - М., 1989. —

333 с.

Шамшшюва А М Пигментный ретинит или тапеторетинальная абиогрофия сетчат’ ки//Нас ледственные и врожденные за' бОЛеЫпНИ сСІ'ІащЛ и *Р»'С П.ноГО •іер- ва/Под ред. А.М. Шамшиновой. — М.: Медицина, 2001. - С. 45-105.

Шамшшюва А.М., Волков В.В. Функциональные методы исследования в офтальмологии. - М.: Медицина, 2004. — 437 с.

Шамшинова А.М., ПетровА.С.,Дворянчико- ва А. П. и др. Компьютерный метод ис-

DancigerM., Hendrickson J., Lyon J. etal. CORD9 — a new locus for CRD: mapping to 8pll, estimation of frequency and evaluation of a candidate genc//Jnv. Ophthalmol. Vs. Sci. - 2001. - Vol. 42. - P. 2458-2465.

G.A., Baca UR K.R.

Visual acuity in patients with Best vitelliform macular dystrophy//Ophthalmo- logy. - 1993. - VoL 100, N 11 - P. 1665-1670.

Fishman G.A., Buckman G., van Every T. Fundus ilavimaculatus: a clinical classification// Doc. Ophthalmol. Proc. Ser. — 1977. — Vol. 13, N 3. - P. 213-220.

следования нарушений цвеюошушг

ния//Вєстн. офтальмол. - 2000. - Т. 2, № 5. - С. 49-51.

Щербатова О.И. Наследственные дистрофии макулярной области/УНаследствен- ные и врожденные заболевания сетчатки и зрительного нерва/Подред. AM. Шам- шиновой. - М.: Медицина, 2001- - С. 209-217.

Allikmets R., Singh N.. Shroyer N.F. etal. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy//Nat. Genet. - 1997. - Vol. 15. - P. 236-246.

Retina, Vitreous, Macula/Eds. D.R.Guyer, U.A.Yannuzzi, S.Chang et al. - Philadelphia — London — Toronto — Montreal — Sydney - Tokyo: W.B.Saunders Company,

1999. - 307 p.

Armstrong J.D., Meyer E., Xu S., ElfervigJ.L. Long-term follow-up of Stargardt’s disease and fundus flavimaculatus//Ophthalmo- 4Ж “ 1998' " VoL 105’ N 3 - p 448-

Azarian S.M., Travis G.H. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardts-disease (ABCRJ//FEBS Lett.

Azarian S.M., Megarity C.F., WengJ. etal. The human photoreceptor rim proteine gen (ABCR): genomic structure zand primer set information for mutation analysis//Hum. Genet. - 1998. - Vol. 102. - P. 699-705.

J., Sandgren' el al.

A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17pl2-pl3//Genomics. - 1995. - Vol. 30. - P. 281-286.

Bergen A., Tinkers A. J.L.G. Localisation of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity//Amer. J. Hum. Genet. — 1997. _ Vol. 60. - P. 1468-1473.

Burk A., Burk R. Augenheilkunde. — Stutt- gardt: George Thieme Verlag, 1997. - 564 s.

Chappelow A.V., Marmor M.F. Effects of pre-adaptation conditions and ambient room lighting on the multifocal ERG//Doc. Ophthalmol. - 2002. - Vol. 105. - P. 2331.

Cremers F.P.M., dePolD.J.R.,vanDriel M. Autosomal recessive retinilis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt’s disease gene ABCR//Hum. Mol. Genet. - 1998. - Vol. 7, N 3. - P. 355-362.

Deeb S.S., Lindsey D.T., Hibiya Y. el al. Genotype-phenotype relationships in human red/green color vision delects. Molecular and psychophysical studies// Amer. J. Hum. Genet. - 1992. - Vol. 51. _P . 687-700.

Deutman A.F. Dominant macular dystrophies// Doc. Ophthalmol. Proc. Soc. - 1976. — Vol. 9, N 7. - P. 415-430.

Deutman A.F. Stargardt’s disease//The Hereditary Dystrophies of the Posterior Pole of the Eye/Ed. A.F.Deutman, — New York: Van Gorcum Сотр., 1971.-P. 100—171.

Vision and Visual Dysfunct ion/Eds. J. R.Dillon, R.L.Gregory. — Vol. 2; Evolution of Eye and Visual Systems. — London: Macmillan, 1991. - 630 p.

Do*net SM. .Holde rG.E., Fitzke F, W. etal. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate c/clase activator 1A gene-encoding guanylate cyclase activating protein-l//Arch. Ophthalmol. - 2001. - Vol. і 19- - P. 96S. Diseases of the Retina. System of Ophthalmology.

Edwards A.O., MiedziakA., Vrabec T. et al. Autosomal dominant Stargardt-like macular dystrophy. I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6ql4//Amer. J. Ophthalmol. - 1999. - Vol. 127, N 4. - P. 426435.

Efferth T. The human ATP-binding cassette transporter genes: from the bench to the bedside//Cun\ Mol. Med. - 2001. - Vol.

1, N1,- P. 45-65.

Evans K, Fryer A., Ingleheam C. el at. Genetic linkage of cone-rod retinal dystrophy io chromosome 19q and evidence for segregation distortion//Nat. Genet. — 1994. - Vol. 6. - P. 210-213.

cone-rod dystrophy (CORD6) to chromosome 17p//Hum. Mol. Genet. - 1997. — Vol. 64. - P. 597-600.

Kelsell RE., Evans X, Gregory C.Y. etal. Localisation of a gsn (CORD7) for a dominant cone-rod dystrophy to chromosome 6q//Amer. J. Hum. Genet. - 1998. — Vol. 63. - P. 274-279.

Kelsell R.E., Gregory-Evans K., Holder G.E., Bird A. C. Localisation of a gsne (CORD7) for a dominant c one-rod dystrophy to chromosome 6q//Amer. J. Hum. Genet. - 199g. _ Vol. 63. - P. 274-279.

Khaliq S., Hameed M., Ismail N. etal. Novel locus for autosomal recessive cone-rod dystrophy CORDS mapping to chromosome lql2—q24//Invest. Ophthalmol. Vs. Sci. - 2000 - Vol. 41. - P. 3709-3712.

Klystra J.A., Aylsworth A.S. Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1//Can. J. Ophthalmol. — 1993.-Vol. 28,-P. 79-80.

Kniazeva M.F., ChiangM.F., MorganB. etal. A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4// Amer. J. Hum. Genet. - 1999. - Vol. 64,

N 5. - P. 1394-1399.

KobayashiA., Higashide T, Hamasaki D. etal. HRG4 (UNCI 19) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model//lnvest. Ophthalmol. Vis. Sci. - 2000. - Vol. 41. —

P. 3268-3277.

■ H. The architecture of functional neurai circuits in vertebrate retina. The Proctor Lecture//lnvest.

Krill A.E., Deutman A. Hereditary Retinal and Choroidal Diseases., Hagerstown, MD; Harper and Row Publishers. Inc., 1977. - 380 p.

Lachenmayr B. Scanning -Laser- Ophthalmo- skop (SLO): Prinzip und Wirkungsweise// Bucherei des Augenarztes/Eds. O.E.Lund, T.Waubke. — Stuttgart: Enke Verlag, 1994. - Vol. 133. - P. 54-61.

Lagali P.S., Mac Donald I. M., Griesinger I.Bet al. Autosomal dominant Stargardt-like macular d^trophy segregating in a large Canadian family//Can. J. Ophthalmol. — 2000. — Vol. 35, N 6. - P. 315-324.

Forsman К., Graff C.,NordstromS. etal. The gene for Best's macular dystrophy is located at 1 Iq 13 in a Swedish lamily//Ciin. Genet. - 1992. - Vol. 42, N 3. - P. 156— 159.

Freund C.L.,Gregory-EvansC.Y., Furukawa T. el al. Cone-rod dystrophy dut to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of a photoreceptor//Cell. —1997. - Vol. 91. - P. 543-553.

Freund C.L., WangQ.-L., ChenS. elal. De novo mutations in the CRX horns obox gene associated with Leber congenital amaurosis (Letter)//Nat. Genet. - 1998. - Vol. 18. - P. 311-312.

Fukui T, YamamotoS., K.el at.

ABCA4 gsne mutations in Japanese patients with Stargardt disease and retinitis pjg- mentosa//Inv. Ophthalmol. Vs. Sci. -

2002. - Vol. 43, N 9. - P. 2819-2824.

Fuse N., Suzuki T, Wada Y el al. Molecular Genetic Analysis of ABCR Gene in Japanese Dry Foim Age-Related Macular Degsneration//Jap. J. Ophthalmol. —

2000. - Vol. 44, N 3. - P. 245-249.

C, Andrassi-Darida et at.

Phenotypes of 16 Staigardt macular dystro- phy/fundus flavimaculams patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation//Graefes Exp. Ophthalmoi. - 2002. - Vol. 240, N 8. - P. 628-638.

Glazer L.C., Dryja T.P. Understanding the etiology of Staigardt's disease//OphthalmoI. Clin. North. Amer. - 2002. - Vol. 15, N 1.

P. 93-100.

S.V. Overview: ABC transporters and human disease//J.

N 6. - P. 453-458.

Heckenlively J.R. Cone dystrophies and dysfunctions//Principles and Practice in clinical electrophysiology of vision/Eds. J.R.Heckencively, G.B.Arden. —St. Louis — Baltimore — Chicago. — London — Sydney - Toronto: Mosby, 1991. - P. 537-543. ’

Hoyng C.B., Poppelaars F., van dePol T.J. etal. Genetic fine mapping of the gsne for recessive Stargardt disease//Hum. Genet. -

1996. - Vol. 98. - P. 500-504.

tiling M., Molday L.L., Molday R.S. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily//J. Biol. Chem. —

1997. - Vol. 272. - P. 10 303-10 310.

Kelsell R.E., Evans K., Gregory C.Y. el al.

Localisation. of a gsne for dominant

Lang Y, Leibu R., H. etal. Cone rode

dysfunction in patients with unexplained reduction of visual acuity//Doc. Ophthalmol. - 1996. - Vol. 92. - P. 173-191.

LanselN.. Niemeyer G., TholenA Stargardt's disease and its intrafamilial variability// Klin. МЫ. Augcnheilk. - 2000. - Bd I486, H, 1. - S. 128-144.

with macular dystrophy//Атег J Ophthalmol - 2001 - Vol 132, N 6 - P 897902

Nakamura M, Holla Y, Tanikawa A et al A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene//Invest Ophthalmol Vis Sci - 2000 - Vol 41 - P 39253932

Nakazawa M, Kikawa E, Chida Y et al Asn244His mutation of the penp he nn/RDS gene causing autosomal dominant cone-rod degeneration//Hum Mol Genet — 1996 —Vol 3 - P 1195-1196

Nathans J, Davenport С M, Weteber R et al Molecular genetics of blue cone mono- chromacy//Science - 1990 - Vol 245 - P 831-838

Lois N, Holder GE, Ви псе C et al Phenotypic subtypes of Staigardt macular dystrophy-fundus flavimaculatus//Arch Ophthalmol - 2001 —Vol 119, N3 -P 359369

Marmor MF, Arden GВ, Nilsson S-£,Zren- ner E (International Standartization Committee) Standard for clinical electroretino- graphy//Pnnciples and Practice of Clinical Electrophysiology of Vision/Eds 1 R He- ckenhvely, G В Arden - St Louis Mosby, 1991 - P 283-288

Maugeri A , Flothmam K, Hemmnch N et al Tne ABCA4 2588G>C Staigardt mutation single origin and increasing frequency from South-West to Noith-East Europe//Europ J Hum Genet - 2002 - Vol 10, N 3 - P 197-203

Mears AJ, Hiriyanna S, Vervoort R et al Remapping of the RP15 locus forX-linked cone-rod degeneration and identification of a de novo insertion in (he RPGR exon ORF15//Amer J Hum Genet - 2000 — Vol 67 - P 1000-1003

Merbs SL, Nathans J Role of Hydroxylbearing aminoacids in differently tuning the absorbtion spectra of the human red and green4 cone pigments//Photochem Photobiol -1993 - Vol 58 - P 869881

S Macular Disease//

Retinal Dystrophies and Degenerations/Ed D A Newsome — New York Raven Press, 1993 -P 137-175

Miedziak A 1, Persia T, Andrews P P, Dono- so LA Stargardt’s macular dystrophy-a patient’s perspective//Optometry — 2000 —Vol 71, N3 -P 165-176

Mon F, Ishiko S ,Kilaya Net al Scotoma and fixation patterns using scanning laser ophthalmoscope microperimetry in patients

Nathans J, Maumenee / H , Zrenner E etal Genetic heterofenity among blue-cone monochromats//Amer J Hum Genet — 1993 - Vol 53 - P 987-1000 Neiiz, M, Neitz J, Jacobs G И More than three different cone pigments among people with normal colour vision//Vis Res -1993 - Vd 33 - P 117-122 Retinal Dystrophies and Dcgenerations/Ed D A Newsome - New York Raven Press, 1988

Noble К G Stargardt’s disease - fundus flavimaculatus//Prmciples and Practice of Clinical Electrophysiology of Vision/Eds J R Heckenlively, G В Arden —St Louis Mosby 1991 - P 669-674 Optical C oherence tomography of ocular disea- ses/Eds C Puhalito, M Нее, J Schuman, J G Fujimoto - USA SIAC, 1995 -

280 p

Bessant D , Payne A et al л new family of Greek origin maps to the CRD locus for autosomal dominant cone- rod dystrophy on 19q//J Med Genet — 1998 -Vol 35 - P 429-431 Payne A M, Dewnes SM et al A mutation in guanylate cyclase activator IA (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p2l 1//Hum Mol Genet - 1998 - Vol 7, N 2 - P 273277

Perrault I, Rozet JM, Calvas P et al Retinal-specific guanitate cyclase gene mutations in Leber’s congenital amau- rosis//Nature Genet — 1996 -Vol 14 - p 461-464

Pinchers A Retinal dystrophies a functional c!assification//Folia Ophthalmol /Lep- zig) - 1982 -Vol 7 - P 105-111 Rozet J M, Gerber S, Souies E Spectram of ABCR gene mutations in autosomal- recessive macular dystrophies//Europ J Hum Genet - 1998 -Vol 6 - P 291— 295

Rozet JM, Gerber S, Ghaz.t lei и/ Мііаіщт of the retinal specific ATP binding transporter gene (ABCR) m a single family segregating both autosomal rwtssive retinitis pigmentosa RP19 and Staigardt disease evidence of clinical heterogeneity at this locus//J Med Genet - 1999 - Vol 36, N 6 - P 447-451 Seymour AS, Dash-Mod: A et al Linkage analyses of x-lmkad cone-rod dystrophy localisation to Xpll,4 and definition of a locus distinct from RP2 to RP3//Amer J Hum Genet - 1998 - Vol 62 - P 122-129

Sieving PA Photopic on- and off-palhway abnormalities in retinal dystrophies//Trans Amer Ophthalmol Soc - 1993 - Vol 91 - P 701-773

Sieving PA Push-pull model of the primate photopic electroretinogram a role of hyperpolanzing neurons in sharping the b-wave//Vis Neurosci — 1994 - Vol 2 _ p 515-532

Slavm M S Occult Maculopathy and the Focal ERG//J Neuro-Ophthalmol - 1998 - Vo! 18, N 1 - P 15-16

Small К W, Syrquin M, Mullen L, Gehrs К Mapping of autosomal dominant cone degeneration to chromosome 17p//Amer J Ophthalmol - 1996 -Vol 121 -P 1318

Small К W, Syrquin M, Mullen L , Gehrs К Mapping of autosomal dominant cone degene ration to chromosome 17p//Amer J Ophthalmol -1996 -Vol 121 -P 1318

Sohocki M M , Sullivan L S, Mintz—Hitter H A etal A range of clinical phenotypes ц«оіміп1 with mutations in CRX, i photoreceptor transcription-factor gene// Amer J Hum Genet — 1998 - Vol 63 - P 1307-1315

Sohocki MM, Malone К A, Sullivan LS, Daiger S P Localization of retma/pmeal- expressed sequences identification of novel candidate genes for inherited retinal disorders//Genomics — 1999 - Vol 58 _ p 29-33

StavrouP, Good PA, Mtsson GP, Kritzmger EE Electrophysiological findings in Stargardt’s-fundus flavimaculatus disease// Eye - 1998 -Vol 12, N 6 - P 953958

Sun H, Molday RS, Nathans J Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor- specific ATF-btnding cassette transporter responsible for Stargardt disease//! Biol Chem - 1999 - Vol 274, N 12 - P 8269-8281

Sutler EE A practical nonscholastic ар- sis//Advanced" - I'MethddB1'- cal Systems Modeling/Ed V 2 Marmare- lis - Vol 1 - Los Angles University of Southern California, 1987 - P 303— 315

Sutler E E The fast m-transform A fast computation of cross correlations with binary m-sequences//SlAM J Comp — 1991 -Vol 20 -P 686-694

Suffer EE A deterministic approach to non-linear system analysis//Nonlinear visi-

on/Eds R В тми,.-!. В v.;-,, - Cleveland CRC Press, 1992 -P 171-220 Sutler E E, Vaegan Lateral interaction

component and local luminance

nonhneanties in the human pattern reversal ERG//Vis Res - 1990 - Vol 30 - P 659-671

Sutler E E, Tran D The field topography of ERG components in man I The photopic luminance response//Vis Res - 1992 - Vol 32 - P 433-446 Szlyk J P, Fishman G A, Alexander К Ret a! Clinical subtipes of cone-rod dystrophy// Arch Ophthalmol - 1993 — Voi 111 — P 781-788

Ten Hove M, Siatkowski RM, Smith J L Foveal Cone Dysfunction syndrome//J Neuroophihalmol - 1998 - Vol 18, N 1 - P 9-14

Walter P, Widder R A , Blunner R Das Mehrfachbhtz-ERG bei Zapfendystrophien and Zapfen-Staebchendystrophien//Klin МЫ Augenheilk — 1998 — Bd 212 - S 88-92

Wang Y, Macke JP, Merbs S L eta! A locus control region adjacement to the human red and green visual pigment genes//Neuron — 1992 —Vol 9 - P 429-440 Warburg M, L,

us HC Deletion mapping of a retinal cone-rod dystrophy assignment to 18q21l (sic)//Amer J Med Genet - 1991 - Vol 39 - P 288-293 We/lz CJ, Went L, Nathans J Human tritanopia associated with a third aminoacis substitution in the blue-sensitive visual pigment//Amer J Hum Genet - 1992 — Vol 51 - P 444-446 Weleber Rd Eisner A Cone degeneration (Bull's-eye dystrophies) and color vision defects//Retinal Dystrophies and Degene- rations/Ed D A Newsome — New York Raven Press, 1988 — P 233-256

A, Neary С Some visual, optometnc and perceptual effects of coloured classes// Ophthal Phisiol Opt - 1991 - Vol 11 -P 163-171

Windericks J, Battisti L , Motulsky A et a! Selective expression of the human x-hnked green opsin genes//Proc Natl Acad Sci USA - 1992 — Vd 89 - P 9710-9714 Zhang К, Garibaldi D C, Kniazeva M et al A novel mutation in the ABCR gene m four patients with autosomal recessive Stargardt disease//Amer J Ophthalmol — 1999 — Vol 128, N 6 - P 720-724 Zigman S Light Filters to improve vision//Opt Vis Sci, - 1992 - Vol 69, N 4 - P 325-328