Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
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review
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Not set
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Sources
- Expert Review Green
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) -dditional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber.
- Best macular dystrophy, 153700Maculopathy, bull's-eyeVitelliform macular dystrophy, adult-onset, 608161Bestrophinopathy, 611809Vitreoretinochoroidopathy, 193220Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13
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review
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Not set
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Best Vitelliform Macular Dystrophy (BVMD), Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC), Additional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber, Autosomal Recessive Bestrophinopathy (ARB)
- Best macular dystrophy, 153700
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0
(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
- Eligibility statement prior genetic testing
- Expert Review Green
Phenotypes
- ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220
- Bestrophinopathy, autosomal recessive , OMIM:611809
- Macular dystrophy, vitelliform, 2, OMIM:153700
- Retinitis pigmentosa, concentric, OMIM:613194
- Retinitis pigmentosa-50, OMIM:613194
- Vitreoretinochoroidopathy, OMIM:193220
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220
- Bestrophinopathy, autosomal recessive , OMIM:611809
- Macular dystrophy, vitelliform, 2, OMIM:153700
- Retinitis pigmentosa, concentric, OMIM:613194
- Retinitis pigmentosa-50, OMIM:613194
- Vitreoretinochoroidopathy, OMIM:193220
Tags
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