Limbal stem cell deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Limbal stem cell deficiency | |
| fr | Déficit en cellules souches limbiques | |
| de | Limbusstammzellinsuffizienz | |
| es | Deficiencia de células madre limbares | Deficiencia de las células progenitoras del limbo esclerocorneal · Insuficiencia del limbo esclerocorneal |
| it | Deficit delle cellule staminali limbiche | |
| nl | Limbale stamceldeficiëntie | |
| pt | Lesões da córnea, com deficiência associada a células estaminais da córnea (limbo), por queimaduras oculares | |
| pl | Niedobór komórek macierzystch rąbka rogówki | |
| cs | Deficit limbálních kmenových buněk | |
| uk | Дефіцит лімбальних стовбурових клітин | |
| zh | 角膜缘干细胞缺乏 | |
| tr | Limbal kök hücre eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H18.7 | NTBT | attributed | validated |
| ICD-11 | 9A7Y | NTBT | attributed | validated |
| MONDO | 0025667 | E | validated | |
| MeSH | D000092423 | E | validated | |
| UMLS | C1561989 | E | validated | |
| MedDRA | 10072138 | 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:519282Rare corneal disorder
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
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
15 annotations · validated 2020-02-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0030953 | Conjunctival hyperemia | |
| HP:0008000 | Decreased corneal reflex | |
| HP:0009926 | Epiphora | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0200026 | Ocular pain | |
| HP:0000613 | Photophobia | |
| HP:0007663 | Reduced visual acuity | |
| Occasional (29-5%) | ||
| HP:0011496 | Corneal neovascularization | |
| HP:0000559 | Corneal scarring | |
| HP:0011494 | Generalized opacification of the cornea | |
| HP:0000491 | Keratitis | |
| HP:0007727 | Opacification of the corneal epithelium | |
| Very rare (<4-1%) | ||
| HP:0500008 | Cornea verticillata | |
| HP:0100583 | Corneal perforation | |
Annotation source: 29109898[PMID]_29113917[PMID]_27856177[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171673
- This record as JSON: /data/d/171673.json