Aangeboren stoornissen betreffende de ogen

Retinitis Pigmentosa and Stationary Night Blindness:

1. Retinits Pigmentosa; RP
   
   OMIM: 268000
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Retinitis Pigmentosa
   
   GeneReviews: Retinitis Pigmentosa Overview

Choroideremia:

1. Choroideremia
   
   OMM: 303100
   
   OMIM: Clinical Synopsis
   
   EyeAtlas: Choroideremia
   
   GeneReviews: Choroideremia

Leber Congenital Amaurosis:

1. Leber congenital amaurosis,  Type I;  LCA1
   
   OMM: 204000
   
   OMIM: Clinical Synopsis
   
   Who named it?: Theodor Karl Gustav Leber

Color Vision and Its Genetic Defects:

• Red-Green defects

1. Protanopia ( Red colorblindness )
   
   OMM: 303900
   
   OMIM: Clinical Synopsis
   
    
2. Deuteranopia ( Green colorblindness )
   
   OMM: 303800
   
   OMIM: Clinical Synopsis
   
    

• Blue-Yellow defects:
   

1. Tritanopia ( Blue collorblindness )
   
   OMM: 190900
   
   OMIM: Clinical Synopsis
   
    
2. Tritanomalous collorblindness
   
   OMM: 304000
   
   OMIM: Clinical Synopsis

• Achromatopsias:
   

1. Achromatopsia 1
   
   Synoniemen: Rod Monochromatism 1
   
   OMM: 603096
   
    
2. Achromatopsia 2
   
   Synoniemen: Total Colorblindness; Rod Monochromatism 2
   
   OMM: 216900
   
   OMIM: Clinical Synopsis
   
    
3. Achromatopsia 3
   
   Synoniemen: Total Colorblindness with myopathy
   
   OMM: 262300
   
   OMIM: Clinical Synopsis
   
    
4. Blue cone monochromatism
   
   OMM: 303700
   
   OMIM: Clinical Synopsis

Norrie Disease:

1. Norrie disease
   
   Synoniemen: Pseudoglioma; Atrophia Bulborum Hereditaria; Episkopi blindness
   
   OMM: 310600
   
   OMIM: Clinical Synopsis
   
   Who named it?: Gordon Norrie
   
   GeneReviews: Norrie Disease

Inherited Eye Diseases Due to Mutations in Transcription Factor Genes:

1. Aniridia; AN2
   
   OMM: 106210
   
   OMIM: Clinical Synopsis
   
    
2. Microphthalmia
   
   OMM: 142993
   
    
3. Waardenburg syndrome Type IIA
   
   OMM: 193510
   
   OMIM: Clinical Synopsis
   
   Who named it?: Petrus Johannes Waardenburg
   
    
4. Autosomal dominant iridogoniodysgenesis anomaly (IGDA)
   
   OMM: 601631
   
   OMIM: Clinical Synopsis
   
    
5. Rieger syndrome Type I
   
   OMM: 180500
   
   OMIM: Clinical Synopsis
   
   Who named it?: Herwigh Rieger
   
    
6. Anterior segment mesenchymal dysgenesis
   
   OMM: 107250
   
   OMIM: Clinical Synopsis
   
    
7. Renal-coloboma syndrome ( papillorenal syndrome )
   
   OMM: 120330
   
   OMIM: Clinical Synopsis
   
    
8. Septooptic dysplasia  ( De Morsier Syndrome )
   
   OMM: 182230
   
   OMIM: Clinical Synopsis
   
   Who named it?: Georges de Morsier
   
    
9. Cone-rod dystrophy 2
   
   OMM: 120970
   
   OMIM: Clinical Synopsis
   
    
10. Leber congenital amaurosis due to defect in CRX
    
    OMM: 602225
    
    Who named it?: Theodor Karl Gustav Leber

 The Glaucomas:

1. juvenile onset primary open-angle glaucoma ( JOAG )
   
   OMM: 137750
   
   OMIM: Clinical Synopsis
   
    
2. Pigmentary glaucoma
   
   OMM: 600510
   
   OMIM: Clinical Synopsis
   
    
3. Nail-Patella syndrome
   
   OMM: 161200
   
   OMIM: Clinical Synopsis
   
    
4. primary congenital glaucoma
   
   OMM: 231300
   
   OMIM: Clinical Synopsis
   
    
5. primary infantile  glaucoma 3
   
   OMM: 600975
   
   OMIM: Clinical Synopsis
   
    
6. Anterior segment mesenchymal dysgenesis
   
   OMM: 107250
   
   OMIM: Clinical Synopsis
   
    
7. Autosomal dominant iridogoniodysgenesis anomaly (IGDA)
   
   OMM: 601631
   
   OMIM: Clinical Synopsis
   
    
8. Isolated Ectopia lentis
   
   OMM: 129600
   
   OMIM: Clinical Synopsis
   
    
9. Type 2 iridogoniodysgenesis
   
   OMM: 137600
   
   OMIM: Clinical Synopsis
   
    
10. Marfan Syndrome
    
    OMIM: 154700
    
    OMIM: Clinical Synopsis
    
    e-Medicine:  Marfan Syndrome
    
    GeneReviews: Marfan Syndrome
    
    Who named it?:  Antoine Bernard-Jean Marfan
    
    Extra informatie: Het syndroom van Marfan
    
     
11. Lowe oculocerebrorenal syndrome
    
    OMIM: 309000
    
    OMIM: Clinical Synopsis
    
     
12. Neurofibromatosis type I
    
    OMIM: 162200
    
    OMIM: Clinical Synopsis
    
     
13. Aniridia type II
    
    OMIM: 106210
    
    OMIM: Clinical Synopsis
    
     
14. Rieger syndrome Type I
    
    OMM: 180500
    
    OMIM: Clinical Synopsis
    
    Who named it?: Herwigh Rieger
    
     
15. Rieger syndrome Type II
    
    OMM: 601499
    
    OMIM: Clinical Synopsis
    
    Who named it?: Herwigh Rieger
    
    
     

Inherited Macular Dystrophies:

1. Best vitelliform dystrophy
   
   OMM: 153700
   
   OMIM: Clinical Synopsis
   
   
    
2. Doyne honeycomb retinal dystrophy
   
   OMM: 126600
   
   OMIM: Clinical Synopsis
   
   
    
3. Sorsby macular dystrophy
   
   OMM: 136900
   
   OMIM: Clinical Synopsis
   
   
    
4. Stargardt disease
   
   OMM: 248200
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Karl Bruno Stargardt
    

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