Recenze Atlas on Inherited Retinal Diseases

Section I: Basic Knowledge 1. Retinal Histology and Anatomical Landmarks 2. Fluorescein Angiography 3. Optical Coherence Tomography 4. Fundus Autofluorescence 5. Electroretinography 6. Electrooculography 7. Glossary of Relevant Genetic and Molecular/Cell Biology Section II: X-linked Forms 8. X-Linked Retinitis Pigmentosa 9. X-Linked Choroideremia 10. X-Linked Juvenile Retinoschisis 11. X-Linked Ocular Albinism 12. Progressive Cone Dystrophy and Cone-Rod Dystrophy 13. Congenital Stationary Night Blindness 14. Blue Cone Monochromatism Section III: Autosomal Dominant Forms 15. Autosomal Dominant Retinitis Pigmentosa 16. Best Vitelliform Macular Dystrophy 17. Pattern Dystrophy 18. Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen) 19. Occult Macular Dystrophy 20. Sorsby Pseudoinflammatory Fundus Dystrophy 21. North Carolina Macular Dystrophy 22. Pigmented Paravenous Chorioretinal Atrophy (PPCRA) 23. Late-Onset Retinal Degeneration Section IV: Autosomal Recessive Form 24. Rod Monochromatism (Achromatopsia) 25. Retinitis Pigmentosa (Non-syndromic) 26. Leber Congenital Amaurosis 27. Stargardt Disease 28. Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome) 29. Best Vitelliform Macular Dystrophy Section V: Systemic Disorders 30. Mitochondrial Disorder: Kearns-Sayre Syndrome 31. Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness 32. Ciliopathy: Usher Syndrome 33. Ciliopathy: Bardet-Biedl Syndrome 34. Ciliopathy: Senior-Løken Syndrome 35. Ciliopathy: Alström Syndrome 36. Ciliopathy: Sjögren-Larsson Syndrome 37. Inborn Errors of Metabolism: Gyrate Atrophy 38. Inborn Errors of Metabolism: Pseudoxanthoma Elasticum 39. Inborn Errors of Metabolism: Refsum Disease 40. Inborn Errors of Metabolism: Bietti Crystalline Dystrophy 41. Extracellular Matrix: Alport Syndrome Section VI: Phakomatoses 42. Von Hippel-Lindau Disease 43. Tuberous Sclerosis 44. Neurofibromatosis Section VII: Phenocopies 45. Rubella Retinopathy 46. Syphilis 47. Autoimmune Retinopathy 48. Drug-Induced Retinal Toxicity 49. Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases 50. Diffuse Unilateral Subacute Neuroretinitis (DUSN) Section VIII: Managing IRDs in Clinics 51. A Practical Approach to Retinal Dystrophies 52. Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding schovat popis