ORPHA:99000
Adult-onset foveomacular vitelliform dystrophy
Synonyms: AOFMD · AVMD · Adult-onset foveomacular dystrophy · Adult-onset foveomacular dystrophy with choroidal neovascularization · Adult-onset vitelliform macular dystrophy · Gass disease · Pseudo-Best disease · Pseudo-vitelliform macular dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset foveomacular vitelliform dystrophy | AOFMD · AVMD · Adult-onset foveomacular dystrophy · Adult-onset foveomacular dystrophy with choroidal neovascularization · Adult-onset vitelliform macular dystrophy · Gass disease · Pseudo-Best disease · Pseudo-vitelliform macular dystrophy |
| fr | Dystrophie fovéo-maculaire vitelliforme de l'adulte | AOFMD · AVMD · Dystrophie maculaire pseudo-vitelliforme · Dystrophie maculaire type pseudo-Best · Dystrophie maculaire vitelliforme de l'adulte · Dégénérescence fovéo-maculaire vitelliforme de l'adulte · Dégénérescence maculaire pseudo-vitelliforme · Dégénérescence maculaire type pseudo-Best · Dégénérescence maculaire vitelliforme de l'adulte · Maladie de Gass · Pseudo-maladie de Best |
| de | Adulte foveomakuläre vitelliforme Dystrophie | AOFMD · AVMD · Adulte foveomakuläre Dystrophie mit choroidaler Neovaskularisationen · Foveomakuläre Dystrophie mit Beginn im Erwachsenenalter · Gass-Krankheit · Makuladegeneration, pseudo-vitelliforme · Makuladystrophie, adulte vitelliforme · Pseudo-Best-Krankheit |
| es | Distrofia foveomacular viteliforme de inicio en el adulto | Distrofia macular viteliforme de inicio en el adulto · Enfermedad de Gass · Pseudodistrofia macular viteliforme · Pseudoenfermedad de Best · AOFMD · AVMD · Disfrofia foveomacular de inicio en el adulto · Disfrofia foveomacular de inicio en el adulto con neovascularización coroidea |
| it | Distrofia vitelliforme foveomaculare a esordio adulto | AOFMD · AVMD · Distrofia foveomaculare a esordio adulto · Distrofia foveomaculare a esordio adulto con neovascolarizzazione coroidea · Distrofia maculare pseudo-vitelliforme · Distrofia maculare vitelliforme a esordio adulto · Malattia di Gass · Malattia pseudo-Best |
| nl | Foveomaculaire vitelliforme dystrofie met aanvang in de volwassenheid | AOFMD · AVMD · Foveomaculaire dystrofie met aanvang op volwassen leeftijd · Foveomaculaire dystrofie met choroïdale neovascularisatie met aanvang op volwassen leeftijd · Pseudo-Best-ziekte · Pseudovitelliforme maculadystrofie · Vitelliforme maculadystrofie met aanvang op volwassen leeftijd · Ziekte van Gass |
| pt | Distrofia foveomacular viteliforme de início no adulto | |
| pl | Żółtkowta dystrofia dołkowo-plamkowa o początku w wieku dorosłym | AOFMD · AVMD · Choroba Gassa · Dystrofia dołkowo-plamkowa o początku w wieku dorosłym · Dystrofia dołkowo-plamkowa o poczatku w wieku dorosłym z neowaskularyzacją naczyniówki · Dystrofia żółtkowta plamki początku w wieku dorosłym · Pseudo-żółtkowta dystrofia plamki · Rzekoma choroba Besta |
| cs | Foveomakulární viteliformní dystrofie s nástupem v dospělosti | AOFMD · AVMD · Gassova choroba · Pseudo-Bestova choroba · Pseudoviteliformní makulární dystrofie · Foveomakulární dystrofie s manifestací v dospělosti · Foveomakulární dystrofie s choroidální neovaskularizací s manifestací v dospělosti · Viteliformní makulární dystrofie s manifestací v dospělosti |
| uk | Фовеомакулярна вітелліформна дистрофія, що починається у дорослих | Фовеомакулярна дистрофія у дорослих · Фовеомакулярна дистрофія у дорослих з неоваскуляризацією хоріоїдальної оболонки · Вітелліформна макулодистрофія, що починається у дорослих · AOFMD · AVMD · Хвороба Гасса · Хвороба псевдо-Беста · Псевдовітелліформна макулодистрофія |
| zh | 成人起病型中央凹黄斑卵黄样营养不良 | 成人型黄斑中心凹营养不良伴脉络膜新生血管 |
| tr | Erişkin başlangıçlı foveomaküler vitelliform distrofi | AVMD · AOFMD · Gass hastalığı · Psedö-best hastalığı · Erişkin başlangıçlı foveomaküler distrofi · Psedö-vitelliform maküler distrofi · Erişkin başlangıçlı vitelliform maküler distrofi · Koroidal neovaskülarizasyon ile seyreden başlangıçlı foveomaküler distrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 153840 | BTNT | validated | |
| OMIM | 608161 | E | validated | |
| OMIM | 616151 | BTNT | validated | |
| OMIM | 616152 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0011979 | E | validated | |
| UMLS | C1842914 | E | validated | |
| GARD | 10909 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:63454Pattern dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BEST1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12703 | ENSG00000167995 | 607854 | 11q12.3 | bestrophin 1 | 10854112[PMID] |
| IMPG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6055 | ENSG00000112706 | 602870 | 6q14.1 | interphotoreceptor matrix proteoglycan 1 | 23993198[PMID] |
| IMPG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18362 | ENSG00000081148 | 607056 | 3q12.3 | interphotoreceptor matrix proteoglycan 2 | 25085631[PMID] |
| PRPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | 9338584[PMID]_10854112[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000505 | Visual impairment | |
| HP:0007677 | Vitelliform maculopathy | |
| Frequent (79-30%) | ||
| HP:0001139 | Choroideremia | |
| HP:0000551 | Color vision defect | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0001123 | Visual field defect | |
| Occasional (29-5%) | ||
| HP:0007899 | Retinal nonattachment | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99000
- This record as JSON: /data/d/99000.json