47 hereditary choroidal dystropathies
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HEREDITARY CHOROIDAL DYSTROPHIES
1. Choroideremia
2. Gyrate atrophy
3. Central areolar choroidal dystrophy
4. Diffuse choroidal atrophy
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ChoroideremiaInheritance - X-linked recessive
• Circumscribed atrophy of RPE and choroid• Starting in periphery
• Gradual central spread• Fovea spared until late
Presents - first decade with nyctalopiaPrognosis - good VA until lateERG - reduced
Progression
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FA in choroideremia
• Preservation of larger choroidal vessels• Hypofluorescence at fovea due to preservation of RPE• Surrounding irregular hyperfluorescence due to preservation of choriocapillaris and partial loss of RPE
• Normal retinal vasculature• Diffuse loss of choriocapillaris
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Female carriers of choroideremia
Peripheral diffuse pigmentary granularity
Central patchy atrophy and mottling of RPE
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Gyrate atrophy
• Mid-peripheral, circular patches of chorioretinal atrophy
• Enlargement and confluence
• Central and peripheral spread• Late retinal vascular attenuation
Inheritance - autosomal recessivePresents - first decade with axial myopia and nyctalopiaPrognosis - usually good VA until lateERG - severely reduced
Cause - deficiency of ornithine keto-acid aminotransferase
• Fovea spared until late
Progression
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Central areolar choroidal dystrophy
• Bilateral, circumscribed, atrophic maculopathy• Prominent large choroidal vessels
Inheritance - dominantPresents - fifth decadePrognosis - poorERG - normal
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Diffuse choroidal atrophy
• Diffuse atrophy of RPE and choriocapillaris• Prominent large choroidal vessels
Inheritance - dominantPresents - fourth to fifth decadesPrognosis - poorERG - reduced