Sorsby fundus dystrophy
Synonyms: SMD · Sorsby macular dystrophy · Sorsby pseudoinflammatory fundus dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sorsby fundus dystrophy | SMD · Sorsby macular dystrophy · Sorsby pseudoinflammatory fundus dystrophy |
| fr | Dystrophie de Sorsby | Dystrophie maculaire de Sorsby · Dystrophie pseudo-inflammatoire de Sorsby |
| de | Sorsby-Fundusdystrophie | SFD · Sorsby-Fundusdystrophie, pseudoinflammatorische |
| es | Distrofia del fondo de ojo de Sorsby | Distrofia macular de Sorsby · Distrofia pseudoinflamatoria del fondo de ojo de Sorsby |
| it | Distrofia del fondo oculare di Sorsby | SMD · Distrofia maculare di Sorsby · Distrofia pseudoinfiammatoria del fondo oculare di Sorsby |
| nl | Fundusdystrofie van Sorsby | SMD · Maculadystrofie van Sorsby · Pseudo-inflammatoire fundusdystrofie van Sorsby |
| pt | Distrofia fúndica de Sorsby | |
| pl | Dystrofia plamki żółtej Sorsby'ego | = en |
| cs | Sorsbyho dystrofie fundu | = en |
| uk | Псевдозапальна дистрофія очного дна Сорсбі | |
| zh | Sorsby假性炎性眼底营养不良 | |
| tr | Sorsby psödoinflamatuar fundus distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136900 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B61 | NTBT | index | validated |
| MONDO | 0007640 | E | validated | |
| MONDO | 7640 | E | validated | |
| MeSH | C564992 | E | validated | |
| UMLS | C1850938 | 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 (2):
- ORPHA:717336Rare genetic isolated progressive predominantly macular disorder
rare genetic diseases - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TIMP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11822 | ENSG00000100234 | 188826 | 22q12.3 | TIMP metallopeptidase inhibitor 3 | 7894485[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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.
HPO phenotypes
17 annotations · validated 2021-09-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007754 | Macular dystrophy | |
| HP:0031528 | Subretinal deposits | |
| HP:0000572 | Visual loss | |
| HP:0030500 | Yellow/white lesions of the macula | |
| Frequent (79-30%) | ||
| HP:0000610 | Abnormal choroid morphology | |
| HP:0030602 | Abnormal fundus autofluorescence imaging | |
| HP:0030491 | Choriocapillaris atrophy | |
| HP:0011506 | Choroidal neovascularization | |
| HP:0030625 | Hyporeflective spaces on macular OCT | |
| HP:0001129 | Large central visual field defect | |
| HP:0000662 | Nyctalopia | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
| HP:0000533 | Chorioretinal atrophy | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0001105 | Retinal atrophy | |
| HP:0007722 | Retinal pigment epithelial atrophy | |
| HP:0001141 | Severely reduced visual acuity | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30578493[PMID]_26077580[PMID]_31704701[PMID]_30298528[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/59181
- This record as JSON: /data/d/59181.json