СПИСОК ЛИТЕРАТУРЫ

Габдрахманова А.Ф., Имаева А.?., Ахтямов КН. и др. О синдроме Гиппеля - Ливдау // Вести, офтачьмол. — 2002. — № 6. - С. 45^16.

Кацнельсон Л А., Форофонова Т.К., Бу-

А Я Сосудистые заболевания глаза - М , 1990 - С 167-175 Коровенков Р К, Кнежевич А Р, Горбунов А А , Кириакиди Е Р Гадкий вариант синдрома Стюрджа — Вебера — Краб- бе // Офгальмол жури - 1990 - № 1 - С 62-64

Мосин ИМ Ишемическое поражение сетчатки у ребенка с нейрофиброматозом

1- го типа // Вести офштьмол - 1998 - 3 - С 46-48

Мосин ИМ Лазсркоагуляция при синдроме Гшшсль у лете! опмвмммо результаты // Опухоли и опухолеподобные заболевания органа зрения - М , 1998 - С 111-112

Рубиова И В, Парса К Ф, Хойт В Ф Спонтанная регрессия семейной глиомы зрительного нерва у мальчика с предполагаемым нейрофиброматозом 1 -го типа (болезнь Реклингхаузена) // Вести офгальмси — 1998 - № 3 - С 48-51

Allanson J Е, VpadhayaM, Watson G Н etal Watson syndrome Is it a subtype of type 1 neurofibromatosis? // S Med Genet — 1991 - Vol 28, N 3 - P 753-756

Al Hindi H, Subach В, Hamilton R L 7 year old girl with seizures // Brain Pathol — 1997 -Vol 7, N3 - P 1023—1024

Amirikta A, Scott IU, Capo И, Murray T G Increasing hyperopia and esotropia as the presenting signs of bilateral dittos choroidal nemangiomas in a patient with Stuige — Weber syndrome //J Pediatr Ophthalmol Strabism - 2002 — Vd 39, N 2 - P 121-122

AnandR , Augsburger J Shields J A Circumscribed choroidal hemangiomas // Arch Ophthalmol - 1989 -Vol 107, N 11 - P 1338-1342

Archer D В,Deutman A, Ernest J T, Krill A E Arteriovenous communications of the retina//Amer J Ophthalmol — 1973 -Vol 75, N 2 - P 224-241

BarkerD, Wright E, Nguyen L etal Gene for von Recklinghausen neurofibromatosis in the pericentromenc region of chromosome 17 // Science - 1987 - Vol 236 - P 1100-1102

Beihws A R, Chyiack L T, Epstein D L , Hutchinson В T Choroidal effiision during glaucoma surgery in patients with prominent episcleral vessels // Arch Ophthalmol - 1979 -Vol 97, N 4 - P 493497

Bender В U,Altehofer C, Januszewicz A etal Functioning thoracic paraganglioma asso

ciation with Von Hippel — Lindau syndrome//! Clin Endocr - 1997 -Vol 82, N 10 - P 3356—3360 Bor it A, Richardson E P The biological and clinical behavior of pilocytic astrocytomas of the optic pathways // Brain — 1982 — Vol 105, N 2 - P 161—187 Bouzas EA, Freidlm V, Parry D M etal Lens opacities in neurofibromatosis 2 further Significant conelations // Brit J Ophthalmol - 1993 - Vol 77, N 6 - P 354357

Bouzas EA, Parry DM, Eldridge R, Kaiser- Kupfer MI Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2 // Retina - 1992 - Vol 12, N 2 - P 103-107

Braffan В К, Bilanutk L T, Zimmerman RA MR of central nervous system neoplasia of the phakomatoses // Semin Roentgenol — 1990 - Vol XXV - P 198—217 Brod RD, Shields JA, Shields CL et al Unusual retinal and renal vascular lesions in the Klippel - Trenaunay - Weber synd- rome//Retina -1992 —Vol 12, N4 — P 355-358

Brodsky MC, Hoyt WE Spontaneous involution of retinal and intracranial artcnovenous malformation in Bonnet - Dochaumc — Blanc syndrome // Вш J Ophthalmo] — 2002 - Vol 86, N 4 - P 360-361 Browne G, Jefferson JA, et al

Von Hippel — lindau disease an important differential diagnosis of polycystic kidney disease // Nephrol Dial Transplant — 1997 _ Vol 12, N6 -P 1132-1136 Carduso R D, Brockhurst R /Perforating diathermy coagulation for retinal angiomas // Arch Ophthalmol — 1976 - Vd 94, N 12 — P 1702-1715

RA.

Ophthalmology -1980 -Vol 87, N 7 - P 956-959

Charles S J Moore A T, Vales JR, Ferguson- Smith M A Lisch nodules in neurofibromatosis type 2 // Arch Ophthalmol — 1989 -Vol 107, N11 -P 1571-1572 Choyke PL, Glenn GM, Wagner J P et al Epididymal cystadenomas in von Hippel — Lindau disease // Urology - 1997 - Vol 49, N 6 - P 926-93 J Connor JM, Pirrit LA, Yates J R et al Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl // J Med Genet - 1987 - Vol 24, N 4 - p 544-546

De Clue J E, Cohen В D, Lowy D R Identification and characterization ofthe neuro-

О - BT2

fibramatosis type 1 protein product // Proc Nat Acad Sci - I99J - Vol 88 - P 9914-9918

De Jong PTVM Verkaart J F, van de Voo- ren M J et al Twin vessels in von Hippel — Lmdau disease // Amer J Ophthalmol — 1988 - Vol 105, N2 -P 165-169 Downward J Rac and Rho in tune // Nature - 1992 -Vol 359 -P 273-274 Effron L, Zakov ZN, Tomsak RL Neovascular glaucoma as a complication of the Wybum — Mason syndroms // J Clin Neuroophthalmol - 1985 - Vol 5,

N 2 - P 95-98

Evans DS, D et al A

clinical study of type 2 neurofibromatosis // Quart J Med - 1992 - Vol 84, N 5 - P 603-618

Ferguson і.

Galhe В, Dunn J, Mantel P et al How do retinoblastoma tumours form9 // Eje — 1992 - Vol 6, Pt2 -P 226-231 GeltskenF, Gehsken О, Sddikoglu TTuberous sclerosis ocular findings and their correlation with cranial computed tomography // Bull Soc Beigs Ophthalmol — 1990 - Vol 238, N і — P 111-121 Glower TW, Stem CK, Legius E et al Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis // Genes, Chromosomes and Cancer - 1991 - Vol 3, N I - P 62-70 Good WV, Brodsky MC, Edwards MS, Hoyt WF Bilateral retinal hamartomas in neurofibromatosis type 2 // Brit J Ophthalmol - 1991 - Vol 75, N3 - P 190

Argon laser treatment of von Hifpel — Lindau retinal angiomas I Clinical and angiographic finding // Arch Ophthalmol - 1974 - Vol 92, N 1 - P 121-125

Goldgar D E, Green P, Parry D Met al Multipoint linkage analyses in neurofibromatose type 1 An international collaboration // Amer J Hum Genet - 1989 - Vol 44, N 1 _ p 6-12

Gomez '■ Clinical experience at Mayo Clinic // Tuberous Sclerosis / Ed M R Gomez - New Yoik Raven Press, 1979 Griffiths PD, Boodram M В, BlaserS et al 99m Technetium HMPAO imaging in children with the Sturge — Vfeber synd

rome a study of 9 cases with CT and MRT correlation // Neuroradiology — 1997 — Vol 39, N 3 - P 219-224 Guttman DM, Collins FS Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis/ / Ann Neurol - 1992 - Vol 31, N 4 - P 555-561

Gutman l ,Dunn D, Behrens M, Gold A P et al Hypopigmented ms spot an early sign of tuberous sclerosis // Ophthalmology — 1982 -Vol 89, N 8 -P 1155-1159 Hardwig P, Robertson DN Vbn Hippel — Lindau disease a familial, often lethal, multisystem phakomatosis // Ophthalmology-1984 - Vol 91, N 2 - P 263270

Heng L К, Ang В CEim ASM Von Hippel’s disease // Asia-Pacif J Ophthalmol - 1989 - Vol 1, N 1 - P 32-33 Huson S M, Harper P S, Hounhan M D et al Cerebellar hemangioblastoma and von Hippel — Lindau disease // Brain — 1986 - Vol 109, N 9 - P 1297-1310 Jakobiec FA,Brodie SE,Haik В Jwamoto T Giant cell astrocytoma of the retina A tumor of possible Mueller cell origin // Ophthalmology - 1983 — Vol 90,

N 12 - P 1565-1567 Kaye L, Rothner A , Beauchamp G etal Ocular findings associked with neurofibromatosis type 2 // Ophthalmology - 1992 - Vol 99, N 11 - P 1424-1429 Kennedy R E Pulsating exophthalmos orbital tumors in sibling // Trans Amer Ophthalmol Soc - 1982 - Vol 80.

Khppel M, Trenaunay P Du Noevus Vanquex osteohypertrophique // Arch Gen Med Pans -1990 -Vol 185 -P 641-646 Kremer I, Gilad E, Ben-Sira I Juxtapapillary exophytic retinal capillary hemangioma treated by yellow krypton (568 nm) laser photocoagulation // Ophthalmic Surg — 1988 - Vd 89, N 12 - P 743-747 Kurosawa A, Kurosawa H Ovoid bodies in choroidal neurofibromatosis // Arch Ophthalmol - 1982 - Vol 100, N 12 - P 1939—1941

Lamiell JM, Salazar FG, Hsia YE Von Hippel disease affecting 43 members of a single kindred // Med - !989 - Vd 68, N 1 - P 1-29

Landau K, Dossetor . Hoyt W Retinal hamartoma in neurofibromatosis 2 // Arch Ophthalmol — 1990 - Vol 108, N 3 - P 328-329

Landau K, Yasargil G M Ocular fundus in neurofibromatosis type 2 // Bnt J Oph

thalmol - 1993 - Vol 77, N 9 - P 646—649

Ledbetter D M, Rich DC, О ’Connell J et al Precise localisation of NF 1 to I7ql 1 2 by balanced translocation // Amer J Hum Genet - 1989 -Vol 44, N 1 -P 6-12 Lewis R A , Gerson L P ,Axelson KAet a/Von Recklinhausen neurofibromatosis II Incidence of optic gliomata // Ophthalmology -1984 -Vol 91, N7 -P 929-935 Lewis RA, Rtccardt V M Neurofibromatosis classification clarified (correspondence) // Ophthalmology — 1989 -Vol 96, N9 - P 1123

LindauA Ueber Kleinhirncysten Bau, Patho- genese und Beziehungen zur Angiomatosis Retinae // Acta Pathol Microbiol Stand Suppl -1926 -Vol I, N 1 — P 1-28 Loewenstem J l Bilateral macular holes m von Hippel — Lmdau disease // Arch Ophthalmol - 1995 - Vol 113, N 2 - P 143144

Lows-Ваг D Sur un syndrome progressif com- prenant des telangiectasies capillaires cu- tanees et conjonctivales symetnques, a disposition naevoide et de troubles cerebel- leux//Confin Neurol (Basel) —1941 — Bd 4, H 1 - S 32-42

. Goldberg and fundus

pigmentaiy changes in tuberous sclerosis // J Pediatr Ophthalmol Strabism - 1981 -Vof 18, N 1 -P 45-46 Margo CE, Barletta J P, Staman J A Giant cell astrocitoma of the retina \n tuberous sclerosis // Retina — 1993 - Vol 13, N 2 - P 155-159

Mattox C, Walton DS Hereditaiy primary childhood glaucomas // Int Ophthalmol Chn - 1993 -Vol 33, N 2 - P 121134

Messmer E, Font RA , Laqua И el a! Cavernous hemangioma of (he retina immuno- histochemical and ultrastructural observation // Arch Ophthahnol - 1984 - Vol 102, N3 -P 413-418 Meyers S M, Gutman FA ,Kaye L D etal Retinal changes associated with neurofibromatosis 2 // Trans Amer Ophthalmol Soc - 1995 -Vol 93, N 3 - P 245-257 Moadel К, Yannuzzt L A Jfo AC, Ursekar A Retinal vascular occlusive disease in a child with neurofibromatosis // Arch Ophthalmol -1994 -Vol 112, N8 - P 1021— 1023

Mon F, Kitaya N .Hikichi T, Yoshida A Choroidal abnormalities in neurofibromatosis type 1 with non-invasive infrared imaging (letter) // Bnt J Ophthalmol — 2002 - Vol 86, N 5 - P 482-483

Mottow-Lippa L, Tso MOM Reyman G A et al Von Hippel angiomatosis A light, electron microscopic and immunoperoxi- date characterisation // Ophthalmology — 1983 - Vol 90, N 6 - P 848-855 Мисі-Mendoza R fiamella M, Fuenmayor-Rivera D Corkscrew retinal vessels in neurofibromatosis type 1 report of 12 cases // Bnt J Ophthalmol - 2002 - Vol 86, N 3 - P 282-284

Musarella MA Gene mapping of ocular diseases // Suiv Ophthalmol - 1992 - Vol 36, N3 -P 285-312 National institutes of Health Consensus Development Conference Neurofibromatosis Conference statement // Arch Neural — 1988 - Vol 45, N 5 - P 575-578 Nicholson DH Induced ocular hypertension during photocoagulation of afferent artery in angiomatosis retinae // Retina — 1983 — Vol 3, N 1 - P 59-61 Nyboer J H, Robertson DM, Gomez M R Retinal lesions in tuberous sclerosis // Arch Ophthalmol - 1976 - Vol 94, N 8 - P 1277-1280

Onder F, Cosar CB, Akbatur H, Rural G Bilateral retinal involvement as a presenting sign of neurofibromatosis // J Pediatr Ophthalmol Strabism - 2002 — Vol 39, N 1 - p 49-51

Osborne J P Diagnosis of tuberous sclerosis // Arch Dis Child - 1988 - Vol 63, N 10 - P 1423-1425 Perry HD, Font R L Ins nodules in von Recklinghausen’s neurofibromatosis Electron microscopic confirmation of their melanocytic origin // Arch Ophthalmol —

1982 - Vol 100, N 12 - P 1635-1640 Peyman GA , Redman К R V Mottow-Lippa L

etal Treatment of large von Hippel tumors by eye wall resection // Ophthalmology -

1983 - Vol 90, N 6 - P 840-847 Platt L D, Devore GR, Horenstem J et at

Prenatal diagnosis of tuberous sclerosis the use of fetal echocardiography // Prenat Diagn - 1987 - Vol 7, N 4 - P 407411

Pneto M L, de Juan J, Anton M et al Smd- rome de Stage — Weber con calctfica- crones atipicas // Rev Neurol - 1997 — Vol 25, N 145 - P 1411-1413 Ragge NK, Baser M E .Klein J et at Ocular abnormalities in neurofibromatosis 2 // Amer J Ophthalmol —1995 - Vol 120, N 5 - P 640-641

Ragge іV К, Folk RE, Cohen WE, Mur~ phree A L Images of Ltsch nodules across the spectrum // Eye — 1993 - Vol 7, Pt 1 _ p 95-101

«■

V The //

and Practice of Medical Genetics / Eds A E H Emery, D L Rimoin - Edinburgh Churchill-Livingstone, 1983 - P 313— 320

Riccardi VM, Lewis RA Penetrance of von Recklinghausen neurofibromatosis a distinction between predecessors and descendants // Amer J Genet — 1988 — Vol 42, N 3 - P 284-289

Richard J M The Phacomatoses neurocu- taneus disorders // Pediatnc ophthalmology and strabismus /Ed К W Wright — St Louis Mosby, 1995 - P 673-687

Riley FC, Campbell RJ Double Phakomato- sis // Arch Ophthalmol - 1979 -Vol 97, N4 -P 518-520

Robertson D M Ophthalmic findings // Tuberous Sclerosis / Ed M R Gomez - New York Raven Press, 1979

Rouleau GA, Merel P, Lutchman M et at Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2 // Nature — 1993 — Vo] 363, N 4 - P 515-521 ' ' GA, Homes JL et.::

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 // Nature - 1987 - Vol 329, N 2 - P 246-248

Rush J A , Younge В R, Campbell RJ et al Optic glioma Long term followup of 85 histopathologically verified cases // Ophthalmology - 1982 - Vol 89, N 8 - P 1213-1219

Schilling A et

al Long term results after low dose ocular irradiation for choroidal haemangiomas I I Brit J Ophthalmol - 1997 - Vol 81, N 4 - P 267-273

Seidel H, Pomphano D, Knowles J Exons as microgenes // Science - 1992 — Vd 257 - P 1489-1490

SeiZftiger BR,Rouleau GA, Ozehus LJetal Von Hippel — Lmdau maps to the region of chromosome 3 associated with renal cell carcinoma // Nature — 1988 - Vol 332, N 3 -P 268-269

Sharma P ,Arya Av ,AszjdR V Unusual retinal manifestation in a combination of Sturge — Weber and Klippel — Trenaunay syndrome — a case report // Ind J Ophthalmol — 1990 -Vol 38, N4 -P 195-197

Shields і ; Diagnosis and Management of Intraocular Tumors — St Louis CV Mosby, 1983 - P 556-562, 672-682

Shields J A The expanding role of laser photocoagulation for intraocular tumors The 1993 H Chnstian Zweng memorial

lecture // Retina - иш - Vol :

Pt 5 _ p 310-322

Singh A D, Noun M, Shields С I.

Skuse G R , Kosciolek В A , Rowley P R Molecular genetic analysis of tumors in \on Reclinghausen neurofibromatosis loss of geterozygosity for chromosome 17 I I Genes, Chromosomes and Cancer - 1989 — Vol 1, N 1 - P 36-41 Smith . Cantor M et al Mapping

of a gene determining tuberous sclerosis to human chromosome 11 q 14-1 lq23 // Genomics - 1990 -Vol 6,N 1 -P 105-114 Stark M, Assum G, Krone WA small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene // Human Genet — 1991 — Vol 87, N 5 - P 685-687

Stem J, Jakobiec FA , Housepian E M The architecture of optic nerve gliomas with and without neurofibromatosis // Arch Ophthalmol - 1980 - Vol 98, N 4 - P 505-511

Stevenson R F, Morin J D Ocular findings m nevus flammeus // Canad J Ophthalmol — 1975 - Vd 10, N 2 -P 136- 139 Susac JO, Smith JL , Scelfo RFYhe «tomato catsup» fundus m Sturge - Weber syndrome // Arch Ophthalmol - 1974 — Vd 92, N 1 - P 69-70 Thomas JV, Schwartz P L , Gragoudas E S Von Hippel’s disease in association with von Recklinghausen's neurofibromatosis // Brit J Ophthalmol - 1978 - Vol 62, N 8 - P 604-608

Upadhyaya M, Chreyson A, Broadhead Wet al A 90 kb deletion associated with neurofibromatosis type 1 // J Med Genet — 1990 - Vol 27, N5 - P 738-741 Webster A R, Maher E R, Moore A T Clinical characteristics of ocular angiomatosis in von Hippel — Lindau disease and correlation with germline mutation // Arch Ophthalmol - 1999 -Vol 117, N 3 -P 371 - 378

Weleber RG ,Zonana /Ins hamartomas (Lisch nodules) in a case of segmental neurofibromatosis 11 Amer J Ophthalmol - 1983 - Vol 96, N 6 - P 740-743 Wertelecki W, Rouleau GA, Superneau D W et al Neurofibromatosis-2 clinical and DNA lineage studies of large kindred I I New Engl J Med - 1988 - Vol 319, N 2 - P 278-283

Waller J.R.

Wolter J.R., Gonzales-Sirit R, Mankin W.J. Neurofibromatosis of the choroid // Amcr. J. Ophthalmol. - 1962. - Vol. 54, N 712. - P. 217-225.

Wybum-Mayson R. The vascular abnormalities and tumors of the spinal cord and its membranes. — St. Louis: C.V.Mosby, 1943a - P. 60-84.

R aneurysm of

mid-brain and relina, facial naevi and mental changes // Brain. - 1943b. - Vol. 66, N 1. - P. 163-203.

Van Boat J.G., Fleury P, Brummelkamp W.H. Tuberous sclerosis and the relation with ienal angiomyolipoma. A genetic study on the clinical aspects // Clin. Genet. — 1989. _ Vol. 35, N 2. - P. 167-173.

Van der ffoeve J. Eye symptoms of phakomatoses (The Doyne Memorial Lecture) //Trans. Ophthalmol. Soc. UK. - 1932. - Vol. 52, N 3. - P. 380-401.

Van der Hoeve J. Fourth type of phakomato- sis// Arch. Ophthalmol.- 1937.-Vol. 18, N 5. - P. 679-682.

Von Hippel E. Ueber eine sehr seltene Erkrankung der Netzhaut // Albrecht von Graefe's Arch. Klin. Exp. Ophthalmol. — 1904. -Vol. 59, N 1. - P. 83-104.

Xu G., O’Connell P., Viskochil D. etal. The neurofibromatosis type 1 gene encodes a protein related to GAP // Cell. - 1990. - Vol. 62, N 4. - P. 599-608.

Romano A.,

(Lisch) nodules in neurofib rarmtosis // Ciin. Genet. - 1986. - Vol. 29, N 1. -

P. 51-55.

Zimmermann M., Seifert V, Schreyer F, Stolke D. Das Hamangioblastom: Beschrei- bung des Krankheitsbildes und Bericht uber 41 Fa lie // Zbl. Neurochir. - 1997. - Bd 58, H. I. - S. 1-6.

Zografos L.Bercher L.,Chamol L. etal. Cobalt-60 treatment of choroidal hemangiomas // Alter, i. Ophthalmol. - 1996. — Vol 121, N 2. - P. 190-199.