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Section I Basic Knowledge |
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Retinal Histology and Anatomical Landmarks |
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3 | (4) |
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4 | (1) |
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4 | (1) |
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4 | (1) |
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Anatomical Landmarks of The Macula |
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4 | (1) |
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5 | (1) |
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5 | (2) |
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7 | (4) |
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8 | (1) |
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8 | (2) |
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10 | (1) |
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10 | (1) |
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Optical Coherence Tomography |
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11 | (4) |
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12 | (1) |
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12 | (1) |
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12 | (1) |
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13 | (2) |
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15 | (6) |
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16 | (1) |
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17 | (1) |
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18 | (1) |
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18 | (1) |
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19 | (1) |
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20 | (1) |
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21 | (10) |
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22 | (1) |
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Glossary of Relevant Genetic and Molecular/Cell Biology |
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23 | (1) |
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24 | (1) |
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25 | (1) |
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26 | (1) |
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27 | (1) |
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27 | (4) |
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Section II X-linked Forms |
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X-linked Retinitis Pigmentosa |
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31 | (6) |
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32 | (1) |
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32 | (1) |
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33 | (1) |
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33 | (1) |
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33 | (1) |
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33 | (1) |
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33 | (2) |
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35 | (2) |
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37 | (6) |
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38 | (1) |
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39 | (1) |
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39 | (1) |
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40 | (1) |
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40 | (2) |
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42 | (1) |
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X-linked Juvenile Retinoschisis |
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43 | (6) |
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44 | (2) |
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46 | (1) |
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46 | (1) |
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46 | (2) |
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46 | (2) |
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48 | (1) |
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48 | (1) |
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48 | (1) |
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49 | (4) |
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50 | (1) |
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50 | (1) |
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50 | (1) |
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50 | (2) |
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50 | (1) |
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51 | (1) |
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52 | (1) |
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Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR) |
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53 | (8) |
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54 | (3) |
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57 | (1) |
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Specific Genotype and Phenotype Correlation |
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58 | (2) |
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58 | (1) |
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58 | (1) |
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RPGRIPI (CORDI3, Leber Congenital Amaurosis [ LCA6]) |
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58 | (1) |
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KCNV2 (Potassium Voltage-Gated Channel Modifier Subfamily V Member 2) |
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58 | (1) |
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SEMA4A (Semaphoring 4A) (CORD 10 or RP35) |
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58 | (1) |
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GUCY2D (CORD6 or LCAI or RCD2) |
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58 | (1) |
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GUCAIA (Guanylate Cyclase Activator IA) (COD4 or CORD 14) |
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59 | (1) |
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PRPH2 (Peripherin 2 or RDS) |
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59 | (1) |
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CRX (CORD2 or LCA7 or CRD) |
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59 | (1) |
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RIMSI (Regulating Synaptic Membrane Exocytosis I, CORD7) |
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59 | (1) |
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59 | (1) |
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RPGR (CODI or CORCXI or RP3 or RP1I5 or XLRP3) |
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59 | (1) |
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60 | (1) |
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Congenital Stationary Night Blindness |
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61 | (4) |
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Congenital Stationary Night Blindness with Normal Fundi |
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62 | (1) |
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62 | (1) |
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62 | (1) |
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Congenital Stationary Night Blindness with Abnormal Fundi |
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63 | (1) |
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63 | (1) |
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64 | (1) |
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64 | (1) |
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65 | (4) |
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66 | (1) |
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66 | (1) |
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66 | (1) |
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66 | (3) |
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Section III Autosomal Dominant Forms |
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Autosomal Dominant Retinitis Pigmentosa |
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69 | (10) |
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70 | (1) |
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70 | (7) |
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70 | (1) |
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PRPF3 Gene (RP 18, SNRNP90) |
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70 | (1) |
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70 | (7) |
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77 | (2) |
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Best Vitelliform Macular Dystrophy |
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79 | (12) |
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80 | (1) |
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80 | (7) |
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87 | (1) |
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Adult-Onset Foveomacular Vitelliform Dystrophy (AFMD) |
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87 | (1) |
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Autosomal Recessive Bestrophinopathy (ARB) |
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87 | (1) |
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Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) |
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87 | (1) |
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87 | (3) |
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bESTI Gene (VMD2 Gene or RP50 or HMD) |
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87 | (3) |
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PRPH2 Gene (Peripherin 2 or RDS or CACD2 or Tetraspanin-22) |
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90 | (1) |
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90 | (1) |
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91 | (6) |
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92 | (4) |
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Butterfly-Type Pattern Dystrophy |
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92 | (4) |
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Adult-Onset Foveomacular Vitelliform Dystrophy |
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96 | (1) |
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Sjogren's Reticular-Type Pattern Dystrophy |
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96 | (1) |
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96 | (1) |
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96 | (1) |
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PRPH2 Gene (Peripherin/RDS or rd2 or Peripherin-2 or RDS) |
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96 | (1) |
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96 | (1) |
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Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen) |
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97 | (6) |
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98 | (4) |
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102 | (1) |
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EFEMPI Gene (DHRD or DRAD or FBLN3 or FIBL-3) |
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102 | (1) |
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102 | (1) |
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103 | (2) |
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104 | (1) |
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104 | (1) |
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104 | (1) |
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Sorsby Pseudoinflammatory Fundus Dystrophy |
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105 | (4) |
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106 | (1) |
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106 | (2) |
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106 | (2) |
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108 | (1) |
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North Carolina Macular Dystrophy |
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109 | (2) |
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110 | (1) |
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110 | (1) |
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110 | (1) |
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Pigmented Paravenous Chorioretinal Atrophy (PPCRA) |
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111 | (4) |
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112 | (1) |
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112 | (1) |
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113 | (2) |
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Late-Onset Retinal Degeneration |
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115 | (4) |
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116 | (1) |
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116 | (1) |
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116 | (1) |
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116 | (3) |
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Section IV Autosomal Recessive Form |
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Rod Monochromatism (Achromatopsia) |
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119 | (6) |
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120 | (1) |
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120 | (1) |
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120 | (3) |
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123 | (1) |
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123 | (2) |
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Retinitis Pigmentosa (Non-syndromic) |
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125 | (14) |
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126 | (1) |
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126 | (4) |
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126 | (1) |
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RP25 or EYS (Eyes Shut Homolog) |
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126 | (1) |
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TULPI (Tubby-Like Protein I) Gene or RP14 or TUBLI or LCA/5 |
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126 | (1) |
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CERKL (Ceramide Kinase-Like) Gene or RP26 |
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126 | (1) |
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127 | (1) |
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Other Genes Associated with AR-RP |
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127 | (3) |
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130 | (1) |
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Leber Congenital Amaurosis |
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131 | (8) |
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132 | (1) |
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132 | (1) |
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Specific Genotype and Phenotype Correlations |
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132 | (1) |
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132 | (1) |
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132 | (1) |
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132 | (1) |
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132 | (1) |
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133 | (1) |
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133 | (1) |
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133 | (1) |
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133 | (1) |
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133 | (1) |
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133 | (1) |
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133 | (1) |
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133 | (1) |
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134 | (1) |
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134 | (1) |
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134 | (1) |
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135 | (1) |
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135 | (2) |
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137 | (1) |
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137 | (2) |
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139 | (14) |
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140 | (1) |
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Clinical Stages and Groupings |
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140 | (5) |
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Stages, Based on Fundus Appearance |
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140 | (5) |
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Groupings, Based on Electroretinography (ERG) |
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145 | (1) |
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145 | (1) |
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Classes, Based on Optical Coherence Tomography (OCT) |
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145 | (1) |
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145 | (6) |
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A&CA4 Gene (RIM Protein or ABCR) |
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145 | (4) |
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149 | (1) |
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Genotype-Phenotype Correlation |
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149 | (2) |
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151 | (2) |
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Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome) |
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153 | (4) |
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154 | (1) |
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154 | (2) |
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156 | (1) |
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Best Vitelliform Macular Dystrophy |
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157 | (4) |
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158 | (1) |
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158 | (3) |
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Section V Systemic Disorders |
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Mitochondrial Disorder: Kearns-Sayre Syndrome |
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161 | (2) |
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162 | (1) |
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162 | (1) |
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162 | (1) |
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Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness |
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163 | (4) |
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164 | (1) |
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165 | (1) |
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165 | (2) |
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Ciliopathy: Usher Syndrome |
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167 | (4) |
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168 | (1) |
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169 | (1) |
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169 | (1) |
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170 | (1) |
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170 | (1) |
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170 | (1) |
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Gliopathy: Bardet-Biedl Syndrome |
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171 | (4) |
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172 | (1) |
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172 | (2) |
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174 | (1) |
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Ciliopathy: Senior-Løken Syndrome |
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175 | (4) |
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176 | (1) |
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176 | (2) |
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178 | (1) |
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Ciliopathy: Alstrom Syndrome |
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179 | (2) |
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180 | (1) |
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180 | (1) |
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180 | (1) |
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Ciliopathy: Sjogren-Larsson Syndrome |
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181 | (2) |
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182 | (1) |
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182 | (1) |
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182 | (1) |
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Inborn Errors of Metabolism: Gyrate Atrophy |
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183 | (4) |
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184 | (1) |
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184 | (1) |
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184 | (3) |
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Inborn Errors of Metabolism: Pseudoxanthoma Elasticum |
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187 | (4) |
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188 | (1) |
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189 | (1) |
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189 | (2) |
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Inborn Errors of Metabolism: Refsum Disease |
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191 | (2) |
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192 | (1) |
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192 | (1) |
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192 | (1) |
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Inborn Errors of Metabolism: Bietti Crystalline Dystrophy |
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193 | (4) |
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194 | (1) |
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194 | (1) |
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195 | (2) |
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Extracellular Matrix: Alport Syndrome |
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197 | (4) |
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198 | (1) |
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198 | (1) |
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198 | (3) |
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Von Hippel-Lindau Disease |
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201 | (4) |
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General Features of Phakomatoses |
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202 | (1) |
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General Features of Von Hippel-Lindau Disease |
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202 | (1) |
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Molecular Genetics of Von Hippel-Lindau Disease |
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203 | (1) |
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203 | (2) |
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205 | (4) |
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206 | (1) |
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206 | (1) |
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207 | (2) |
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209 | (6) |
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210 | (1) |
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210 | (1) |
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210 | (1) |
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210 | (1) |
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211 | (4) |
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215 | (4) |
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General Features: Phenocopies |
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216 | (1) |
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General Features: Rubella Retinopathy |
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216 | (1) |
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217 | (2) |
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219 | (4) |
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220 | (1) |
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220 | (3) |
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223 | (4) |
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General Features: Autoimmune Retinopathies |
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224 | (1) |
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Paraneoplastic Retinopathy |
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224 | (1) |
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Non-paraneoplastic Autoimmune Retinopathy |
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224 | (2) |
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226 | (1) |
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Drug-Induced Retinal Toxicity |
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227 | (6) |
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228 | (1) |
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Damage to RPE and Photoreceptor Complex |
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228 | (1) |
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Damage to the Vascular Bed or Microvasculopathy/Occlusion |
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229 | (2) |
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Damage to Ganglion Cell Layer or Optic Nerve |
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231 | (1) |
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Drugs Causing Cystoid Macular Edema |
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232 | (1) |
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Drugs Causing Crystalline Retinopathy |
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232 | (1) |
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232 | (1) |
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232 | (1) |
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Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases |
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233 | (6) |
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234 | (1) |
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235 | (2) |
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237 | (2) |
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Diffuse Unilateral Subacute Neuroretinitis (DUSN) |
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239 | (6) |
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240 | (1) |
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241 | (4) |
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Section VIII Managing IRDs in Clinics |
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A Practical Approach to Retinal Dystrophies |
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245 | (16) |
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246 | (1) |
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Stationary Retinal Dystrophies |
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246 | (3) |
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Stationary Rod Dystrophies |
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246 | (1) |
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Stationary Cone Dysfunction Syndromes |
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247 | (2) |
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Progressive Retinal Dysfunction |
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249 | (2) |
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251 | (4) |
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251 | (1) |
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Other Central Dystrophies |
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252 | (3) |
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255 | (2) |
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Dietary Treatment and Vitamins |
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255 | (1) |
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Treatment of Complications |
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255 | (1) |
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256 | (1) |
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257 | (1) |
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257 | (1) |
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257 | (4) |
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Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding |
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261 | (8) |
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262 | (1) |
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Which Retinal Diseases Would Benefit from Genetic Testing? |
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262 | (1) |
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What Is the Role of the Ophthalmologist in Genetic Testing? |
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262 | (1) |
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What Are the Benefits of a Genetic Test? |
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262 | (1) |
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What Are the Risks of Genetic Testing? |
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263 | (1) |
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Does Everyone with the Same Diagnosis Have the Same Genetic Mutation? |
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263 | (1) |
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What Information Is Given by Genetic Testing? |
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263 | (1) |
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What Are the Types of Genetic Testing? |
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263 | (1) |
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What Are the Structure and Function of the Genome? |
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264 | (1) |
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264 | (1) |
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264 | (1) |
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What Is Genomic or Genetic Variation? |
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264 | (1) |
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Does Every Variation Result in a Disease? |
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265 | (1) |
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How Are Genomic Variants Classified in a Genetic Report? |
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265 | (1) |
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Are Further Investigations Needed After the Genetic Testing? |
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265 | (1) |
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Understanding the Genetic Testing Report |
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265 | (3) |
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265 | (1) |
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265 | (1) |
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265 | (1) |
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How Are Reference Sequence Variants Reported or Described? |
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265 | (3) |
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268 | (1) |
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268 | (1) |
| Index |
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269 | |