ORPHA:98961
Reis-Bücklers corneal dystrophy
Synonyms: Anterior limiting membrane dystrophy type 1 · Anterior limiting membrane dystrophy type I · Atypical granular corneal dystrophy · Corneal dystrophy of Bowman layer type 1 · Corneal dystrophy of Bowman layer type I · Geographic corneal dystrophy · Granular corneal dystrophy type 3 · Granular corneal dystrophy type III · RBCD · Superficial granular corneal dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Reis-Bücklers corneal dystrophy | Anterior limiting membrane dystrophy type 1 · Anterior limiting membrane dystrophy type I · Atypical granular corneal dystrophy · Corneal dystrophy of Bowman layer type 1 · Corneal dystrophy of Bowman layer type I · Geographic corneal dystrophy · Granular corneal dystrophy type 3 · Granular corneal dystrophy type III · RBCD · Superficial granular corneal dystrophy |
| fr | Dystrophie cornéenne de Reis-Bücklers | Dystrophie cornéenne de Bowman type 1 · Dystrophie cornéenne de Bowman type I · Dystrophie cornéenne en carte géographique · Dystrophie cornéenne granulaire atypique · Dystrophie cornéenne granulaire superficielle · Dystrophie cornéenne granulaire type 3 · Dystrophie cornéenne granulaire type III · RBCD |
| de | Reis-Bücklers-Hornhautdystrophie | Geografische Hornhautdystrophie · Hornhautdystrophie der Bowman-Lamelle Typ 1 · Hornhautdystrophie der Bowman-Lamelle Typ I · Hornhautdystrophie, atypische granuläre · Hornhautdystrophie, granuläre, Typ 3 · Hornhautdystrophie, granuläre, Typ III · Oberflächliche granuläre Hornhautdystrophie · RBCD · Vordere limitierende Membrandystrophie Typ I |
| es | Distrofia corneal de Reis-Bücklers | Distrofia corneal de la membrana de Bowman tipo 1 · Distrofia corneal de la membrana de Bowman tipo I · Distrofia corneal geográfica · Distrofia corneal granular atípica · Distrofia corneal granular superficial · Distrofia corneal granular tipo 3 · Distrofia corneal granular tipo III · Distrofia de la membrana limitante anterior tipo 1 · Distrofia de la membrana limitante anterior tipo I · RBCD |
| it | Distrofia corneale di Reis-Bûcklers | Distrofia corneale a cartina geografica · Distrofia corneale della membrana di Bowman, tipo I · Distrofia corneale granulare atipica · Distrofia corneale granulare superficiale · Distrofia corneale granulare, tipo III · Distrofia della membrana limitante anteriore, tipo I · RBCD |
| nl | Corneadystrofie van Reis-Bücklers | Atypische granulaire corneadystrofie · Corneadystrofie van laag van Bowman type 1 · Corneadystrofie van laag van Bowman type I · Dystrofie van anterieure grensmembraan type 1 · Dystrofie van anterieure grensmembraan type I · Geografische corneadystrofie · Granulaire corneadystrofie type 3 · Granulaire corneadystrofie type III · Hoornvliesdystrofie van Reis-Bücklers · Oppervlakkige granulaire corneadystrofie · RBCD |
| pt | Distrofia corneana, tipo Reis-Buckler | |
| pl | Dystrofia rogówki Reisa i Bücklersa | RBCD · Geograficzna dystrofia rogówki · Ziarnista dystrofia rogówki typu 3 · Atypowa ziarnista dystrofia rogówki · Ziarnista dystrofia rogówki typu III · Powierzchowna ziarnista dystrofia rogówki · Dystrofia rogówki warstwy Bowmana typu 1 · Dystrofia rogówki warstwy Bowmana typu I · Dystrofia błony granicznej przedniej typu 1 · Dystrofia błony granicznej przedniej typu I |
| cs | Reisova-Bücklerova dystrofie rohovky | Dystrofie membrana limitans anterior, typ I · Atypická granulární dystrofie rohovky · Dystrofie Bowmanovy vrstvy rohovky, typ I · Geografická dystrofie rohovky · Granulární dystrofie rohovky, typ III · RBCD · Povrchová granulární dystrofie rohovky · Reis-Bücklerova dystrofie rohovky |
| uk | Дистрофія рогівки Рейса-Бюклерса | Дистрофія передньої лімбічної мембрани, тип 1 · Дистрофія передньої лімбічної мембрани I типу · Атипова зерниста дистрофія рогівки · Дистрофія рогівки шару Боумена типу 1 · Дистрофія рогівки шару Боумена I типу · Географічна дистрофія рогівки · Зерниста дистрофія рогівки 3 типу · Гранулярна дистрофія рогівки III типу · RBCD · Поверхнева зерниста дистрофія рогівки |
| zh | Reis-Bücklers角膜营养不良 | 前界膜角膜营养不良I型 |
| tr | Reis-Bücklers korneal distrofi | RBCD · Coğrafi kornea distrofisi · Granüler kornea distrofisi tip 3 · Atipik granüler kornea distrofisi · Granüler korneal distrofi tip III · Yüzeysel granüler korneal distrofi · Bowman tabakası tip 1'in kornea distrofisi · Bowman tabakası tip I'in kornea distrofisi · Anterior sınırlayıcı membran distrofi tip 1 · Anterior sınırlayıcı membran distrofi tip I |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608470 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0012043 | E | validated | |
| MeSH | C535476 | E | validated | |
| UMLS | C0339278 | E | validated | |
| GARD | 9276 | 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 (2):
- ORPHA:522562Genetic superficial corneal dystrophy
rare genetic diseases - ORPHA:98625Superficial corneal dystrophy
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TGFBI | Disease-causing germline mutation(s) in | Assessed | HGNC:11771 | ENSG00000120708 | 601692 | 5q31.1 | transforming growth factor beta induced | 20360992[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 81 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98961
- This record as JSON: /data/d/98961.json