Lattice corneal dystrophy type I
Synonyms: Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy · LCD1 · LCDI · Lattice corneal dystrophy type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lattice corneal dystrophy type I | Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy · LCD1 · LCDI · Lattice corneal dystrophy type 1 |
| fr | Dystrophie cornéenne grillagée type I | Dystrophie cornéenne grillagée classique · Dystrophie cornéenne grillagée type 1 · Dystrophie de Biber-Haab-Dimmer · LCD1 · LCDI |
| de | Hornhautdystrophie, gittrige, Typ 1 | Biber-Haab-Dimmer-Dystrophie · Klassische gittrige Hornhautdystrophie · LCD Typ 1 · LCD1 |
| es | Distrofia corneal reticular tipo I | Distrofia corneal reticular clásica · Distrofia corneal reticular tipo 1 · Distrofia de Biber-Haab-Dimmer · LCD1 · LCDI |
| it | Distrofia corneale reticolare, tipo I | Distrofia corneale reticolare classica · Distrofia corneale reticolare, tipo 1 · Distrofia di Biber-Haab-Dimmer · LCD1 · LCDI |
| nl | Lattice corneadystrofie type I | Dystrofie van Biber-Haab-Dimmer · Klassieke lattice corneadystrofie · LCD1 · LCDI · Lattice corneadystrofie type 1 |
| pt | Distrofia corneana, reticular, tipo I | |
| pl | Siateczkowata dystrofia rogówki typu I | Dystrofia Bibera, Haaba i Dimmera · Klasyczna siateczkowata dystrofia rogówki typu 1 · LCD1 · LCDI · Siateczkowata dystrofia rogówki typu 1 |
| cs | Mřížková dystrofie rohovky, typ I | Biberova-Haabova-Dimmerova dystrofie · LCD1 · LCDI · Klasická mřížková dystrofie rohovky · Mřížková dystrofie rohovky, typ 1 · Biber-Haab-Dimmerova dystrofie |
| uk | Решітчаста дистрофія рогівки, тип I | Дистрофія Бібера-Хааба-Діммера · Класична решітчаста дистрофія рогівки · Решітчаста дистрофія рогівки, тип 1 · LCD1 · LCDI |
| zh | 格子状角膜营养不良I型 | 典型晶格状角膜营养不良 |
| tr | Kafes korneal distrofi tip I | LCD1 · LCDI · Biber-Haab-Dimmer distrofisi · Kafes korneal distrofi tip 1 · Klasik latis kornea distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122200 | E | validated | |
| OMIM | 608471 | BTNT | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0007380 | E | validated | |
| MeSH | C537881 | E | validated | |
| UMLS | C1690006 | E | validated | |
| GARD | 9678 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98626Stromal corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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 | 12770961[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
HPO phenotypes
17 annotations · validated 2021-03-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000481 | Abnormal cornea morphology | |
| HP:0011493 | Central opacification of the cornea | |
| HP:0007957 | Corneal opacity | |
| HP:0000559 | Corneal scarring | |
| HP:0001149 | Lattice corneal dystrophy | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0000483 | Astigmatism | |
| HP:0012040 | Corneal stromal edema | |
| HP:0200026 | Ocular pain | |
| HP:0000613 | Photophobia | |
| HP:0000495 | Recurrent corneal erosions | |
| HP:0025337 | Red eye | |
| HP:0008039 | Subepithelial corneal opacities | |
| Occasional (29-5%) | ||
| HP:0008511 | Central posterior corneal opacity | |
| HP:0012155 | Decreased corneal sensation | |
| HP:0011003 | High myopia | |
| HP:0007924 | Slow decrease in visual acuity | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 27402970[PMID]_20806046[PMID]_18470323[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98964
- This record as JSON: /data/d/98964.json