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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Achromatopsia, Cone, and Cone-rod Dystrophy
- Macular Dystrophy/Degeneration/Stargardt Disease
- Stargardt disease 1, 248200
- Macular Degeneration (Dominant)
- Stargardt Disease, Recessive
- Retinitis pigmentosa 19, 601718
- Cone-rod dystrophy 3, 604116
- Macular degeneration, age-related, 2, 153800
- Fundus flavimaculatus, 248200
- Retinal dystrophy, early-onset severe, 248200
- Retinitis pigmentosa
- Retinitis Pigmentosa, Recessive
- Stargardt disease 1, 248200Retinitis pigmentosa 19, 601718Cone-rod dystrophy 3, 604116Macular degeneration, age-related, 2, 153800Fundus flavimaculatus, 248200Retinal dystrophy, early-onset severe, 248200
- Eye Disorders
- Retinitis pigmentosa 19, 601718
- Cone-rod dystrophy 3, 604116
- Macular degeneration, age-related, 2, 153800
- Fundus flavimaculatus, 248200
- Retinal dystrophy, early-onset severe, 248200
- Macular Degeneration
- Stargardt Disease 1
- STGD1
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Cone-rod dystrophy 3, 604116
- Retinal dystrophy, early-onset severe
- Eye Disorders
- Fundus flavimaculatus
- {Macular degeneration, age-related, 2}, 153800
- Retinitis pigmentosa 19, 601718
- Stargardt disease 1, 248200
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Retinal dystrophy, early-onset severe, 248200
- Fundus flavimaculatus, 248200
- Stargardt disease 1, 248200
- Cone-rod dystrophy 3, 604116
- Retinitis pigmentosa 19, 601718
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