Atlas of Inherited Retinal Diseases / / edited by Stephen H. Tsang, Tarun Sharma, Vlad Diaconita
| Atlas of Inherited Retinal Diseases / / edited by Stephen H. Tsang, Tarun Sharma, Vlad Diaconita |
| Autore | Tsang Stephen H |
| Edizione | [2nd ed. 2025.] |
| Pubbl/distr/stampa | Cham : , : Springer Nature Switzerland : , : Imprint : Springer, , 2025 |
| Descrizione fisica | 1 online resource (433 pages) |
| Disciplina | 617.735 |
| Altri autori (Persone) |
SharmaTarun
DiaconitaVlad |
| Collana | Advances in Experimental Medicine and Biology |
| Soggetto topico |
Ophthalmology
Medical genetics Genetics Clinical Genetics Medical Genetics Genetics and Genomics |
| ISBN | 3-031-72230-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Chapter 1 Retinal Histology and Anatomical Landmarks -- Chapter 2 Fluorescein Angiography -- Chapter 3 Optical Coherence Tomography -- Chapter 4 Fundus Autofluorescence -- Chapter 5 ERG -- Chapter 6 Electrooculography -- Chapter 7 Glossary of Relevant Genetic and MolecularCell Biology -- Chapter 8 X-linked Retinitis Pigmentosa -- Chapter 9 X-linked Choroideremia -- Chapter 10 X-linked Juvenile Retinoschisis -- Chapter 11 X-linked Ocular Albinism -- Chapter 12 Progressive Cone Dystrophy and Cone-Rod Dystrophy -- Chapter 13 Congenital Stationary Night Blindness -- Chapter 14 Blue Cone Monochromatism -- Chapter 15 Autosomal Dominant Retinitis Pigmentosa -- Chapter 16 Best Vitelliform Macular Dystrophy -- Chapter 17 Pattern Dystrophy -- Chapter 18 Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen) -- Chapter 19 Occult Macular Dystrophy -- Chapter 20 Sorsby Pseudoinflammatory Fundus Dystrophy -- Chapter 21 North Carolina Macular Dystrophy -- Chapter 22 Pigmented Paravenous Chorioretinal Atrophy (PPCRA) -- Chapter 23 Late-Onset Retinal Degeneration -- Chapter 24 Achromatopsia (Rod Monochromatism) -- Chapter 25 Retinitis Pigmentosa (Non-syndromic) -- Chapter 26 Leber Congenital Amaurosis -- Chapter 27 Stargardt Disease -- Chapter 28 Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome) -- Chapter 29 Best Vitelliform Macular Dystrophy -- Chapter 30 Mitochondrial Disorder Kearns-Sayre Syndrome -- Chapter 31 MIDD -- Chapter 32 Usher Syndrome -- Chapter 33 Bardet-Biedl Syndrome -- Chapter 34 Senior-Loken Syndrome -- Chapter 35 Alstrom Syndrome. Chapter 36 Sjogren-Larsson Syndrome -- Chapter 37 Inborn Errors of Metabolism Gyrate Atrophy -- Chapter 38 Pseudoxanthoma Elasticum -- Chapter 39 Refsum Disease -- Chapter 40 Bietti -- Chapter 41 Alport Syndrome -- Chapter 42 N - Stickler Syndrome -- Chapter 43 N - OTX2 Syndrome -- Chapter 44 VHL -- Chapter 45 Tuberous Sclerosis -- Chapter 46 Neurofibromatosis -- Chapter 47 Rubella Retinopathy -- Chapter 48 Syphilis -- Chapter 49 AIR -- Chapter 50 Drug-Induced Retinal Toxicity -- Chapter 51 Non-Infectious Uveitis -- Chapter 52 Diffuse Unilateral Subacute Neuroretinitis (DUSN) -- Chapter 53 CSCR -- Chapter 54 Pathologic Myopia -- Chapter 55 A Practical Approach to Retinal Dystrophies -- Chapter 56 Genetic Testing For Inherited Retinal Dystrophy -- Chapter 57 Genetic Reports -- Chapter 58 The genetic basis of IRDS and the role of genetic testing -- Chapter 59 Seeing Stars The Gene Therapy Revolution -- Chapter 60 Mutation Specific Treatments for Inherited Retinal Diseases -- Chapter 61 Global Treatment Approaches Part 1 Neuroprotection and Stem Cell Therapy -- Chapter 62 Global Treatment Approaches Part 2 Optogenetics and Retinal Implants. |
| Record Nr. | UNINA-9911018751303321 |
Tsang Stephen H
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| Cham : , : Springer Nature Switzerland : , : Imprint : Springer, , 2025 | ||
| Lo trovi qui: Univ. Federico II | ||
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Atlas of Inherited Retinal Diseases / / edited by Stephen H. Tsang, Tarun Sharma
| Atlas of Inherited Retinal Diseases / / edited by Stephen H. Tsang, Tarun Sharma |
| Edizione | [1st ed. 2018.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (262 pages) |
| Disciplina | 616.042 |
| Collana | Advances in Experimental Medicine and Biology |
| Soggetto topico |
Gene therapy
Animal genetics Ophthalmology Medical genetics Gene Therapy Animal Genetics and Genomics Gene Function |
| ISBN | 3-319-95046-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Section I: Basic Knowledge. Retinal Histology and Anatomical Landmarks -- Fluorescein Angiography -- Optical Coherence Tomography -- Fundus Autofluorescence -- Electroretinography -- Electrooculography -- Glossary of Relevant Genetic and Molecular/Cell Biology -- Section II: X-linked Forms -- X-Linked Retinitis Pigmentosa -- X-Linked Choroideremia -- X-Linked Juvenile Retinoschisis -- X-Linked Ocular Albinism -- Progressive Cone Dystrophy and Cone-Rod Dystrophy -- Congenital Stationary Night Blindness -- Blue Cone Monochromatism -- Section III: Autosomal Dominant Forms -- Autosomal Dominant Retinitis Pigmentosa -- Best Vitelliform Macular Dystrophy -- Pattern Dystrophy -- Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen) -- Occult Macular Dystrophy -- Sorsby Pseudoinflammatory Fundus Dystrophy -- North Carolina Macular Dystrophy -- Pigmented Paravenous Chorioretinal Atrophy (PPCRA) -- Late-Onset Retinal Degeneration -- Section IV: Autosomal Recessive Form -- Rod Monochromatism (Achromatopsia) -- Retinitis Pigmentosa (Non-syndromic) -- Leber Congenital Amaurosis -- Stargardt Disease -- Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome) -- Best Vitelliform Macular Dystrophy -- Section V: Systemic Disorders -- Mitochondrial Disorder: Kearns-Sayre Syndrome -- Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness -- Ciliopathy: Usher Syndrome -- Ciliopathy: Bardet-Biedl Syndrome -- Ciliopathy: Senior-Løken Syndrome -- Ciliopathy: Alström Syndrome -- Ciliopathy: Sjögren-Larsson Syndrome -- Inborn Errors of Metabolism: Gyrate Atrophy -- Inborn Errors of Metabolism: Pseudoxanthoma Elasticum -- Inborn Errors of Metabolism: Refsum Disease -- Inborn Errors of Metabolism: Bietti Crystalline Dystrophy -- Extracellular Matrix: Alport Syndrome -- Section VI: Phakomatoses -- Von Hippel-Lindau Disease -- Tuberous Sclerosis -- Neurofibromatosis -- Section VII: Phenocopies -- Rubella Retinopathy -- Syphilis -- Autoimmune Retinopathy -- Drug-Induced Retinal Toxicity -- Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases -- Diffuse Unilateral Subacute Neuroretinitis (DUSN) -- Section VIII: Managing IRDs in Clinics -- A Practical Approach to Retinal Dystrophies -- Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding. |
| Record Nr. | UNINA-9910303440103321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2018 | ||
| Lo trovi qui: Univ. Federico II | ||
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Ophthalmology Q&A Board Review / / by: Glass, Lora R. Dagi
| Ophthalmology Q&A Board Review / / by: Glass, Lora R. Dagi |
| Autore | Abdelhakim Aliaa H |
| Pubbl/distr/stampa | New York, New York : , : Thieme, , 2019 |
| Descrizione fisica | 1 online resource (358 pages) |
| Disciplina | 617.70076 |
| Soggetto topico | Ophthalmology, Optometry |
| Soggetto genere / forma | Examination Question |
| ISBN |
1-63853-645-7
1-68420-067-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Cornea, External Disease, and Anterior Segment / Danielle Trief -- Glaucoma / Veena Rao -- Lens and Cataract / Lisa Park -- Neuro-Ophthalmology / Alverto Distefano -- Oculofacial, Plastics, and Orbit / Lora Glass -- Pediatric Ophthalmology and Strabismus / Euna Koo, Sylvia H. Yoo, Allison R. Loh, Catherine Choi, Mimi Trager Cabrera, and Maanasa Indaram -- Refractive Management and Optics / Craig See -- Retina, Vitreous, and Intraocular Tumors / Tongalp Tezel -- Uveitis / Stephanie Llop. |
| Record Nr. | UNINA-9910795368603321 |
Abdelhakim Aliaa H
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| New York, New York : , : Thieme, , 2019 | ||
| Lo trovi qui: Univ. Federico II | ||
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Ophthalmology Q&A Board Review / / by: Glass, Lora R. Dagi
| Ophthalmology Q&A Board Review / / by: Glass, Lora R. Dagi |
| Autore | Abdelhakim Aliaa H |
| Pubbl/distr/stampa | New York, New York : , : Thieme, , 2019 |
| Descrizione fisica | 1 online resource (358 pages) |
| Disciplina | 617.70076 |
| Soggetto topico | Ophthalmology, Optometry |
| Soggetto genere / forma | Examination Question |
| ISBN |
1-63853-645-7
1-68420-067-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Cornea, External Disease, and Anterior Segment / Danielle Trief -- Glaucoma / Veena Rao -- Lens and Cataract / Lisa Park -- Neuro-Ophthalmology / Alverto Distefano -- Oculofacial, Plastics, and Orbit / Lora Glass -- Pediatric Ophthalmology and Strabismus / Euna Koo, Sylvia H. Yoo, Allison R. Loh, Catherine Choi, Mimi Trager Cabrera, and Maanasa Indaram -- Refractive Management and Optics / Craig See -- Retina, Vitreous, and Intraocular Tumors / Tongalp Tezel -- Uveitis / Stephanie Llop. |
| Record Nr. | UNINA-9910808133403321 |
Abdelhakim Aliaa H
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| New York, New York : , : Thieme, , 2019 | ||
| Lo trovi qui: Univ. Federico II | ||
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