Autosomal dominant drusen
Synonyms: ADD · DHRD · Dominant drusen · Dominant radial drusen · Doyne honeycomb retinal dystrophy · Familial drusen · Malattia leventinese
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant drusen | ADD · DHRD · Dominant drusen · Dominant radial drusen · Doyne honeycomb retinal dystrophy · Familial drusen · Malattia leventinese |
| fr | Drusen autosomique dominant | DHRD · Drusen dominants · Drusen familial dominant · Drusen familiaux · Drusen radiaires dominants · Dystrophie maculaire en rayon de miel de Doyne · Malattia leventinese |
| de | Drusen, autosomal-dominante | Drusen, familiäre · DHRD · Doynsche Honigwabendystrophie · Drusen, dominante · Drusen, dominante radiäre · Malattia leventinese |
| es | Drusas autosómicas dominantes | DHRD · Distrofia retiniana en panal de Doyne · Malattia leventinese · Drusas dominantes · Drusas radiales dominantes · Drusas familiares |
| it | Drusen autosomici dominanti | DHRD · Distrofia retinica a favo di Doyne · Drusen dominanti · Drusen radiali dominanti · Malattia leventinese · ADD · Drusen familiari |
| nl | Autosomaal dominante drusen | ADD · DHRD · Dominante drusen · Dominante radiale drusen · Honingraat-retinadystrofie van Doyne · Familiale drusen · Malattia leventinese |
| pt | Drusas dominante | |
| pl | Rodzinne druzy tarczy nerwu wzrokowego | DHRD · Dominujące druzy tarczy nerwu wzrokowego · Dominujące promieniowe druzy tarczy neru wzrokowego · Dystrofia plamki typu "plastra miodu" Doyne'a |
| cs | Familiární drúzy | DHRD · Dominantní drúzy · Dominantní radiální drúzy · Doyenova voštinovitá retinální dystrofie · Malattia leventinese |
| uk | Сімейні друзи | DHRD · Домінантний друзен · Домінуючий радіальний друзен · Сотова дистрофія сітківки Дойна · Малатія левентінезе (Malattia leventinese) |
| zh | 家族性玻璃疣 | 多英(氏)蜂窝状视网膜营养不良 |
| tr | Ailesel drusen | DHRD · Baskın drusen · Malattia leventinese · Baskın radyal drusen · Doyne bal peteği retina distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 126600 | E | validated | |
| OMIM | 126700 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0007471 | E | validated | |
| MeSH | C535602 | E | validated | |
| UMLS | C1832174 | E | validated | |
| GARD | 1912 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:98667OBSOLETE: Disease predisposing to age-related macular degeneration referred to · inactive
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFH | Disease-causing germline mutation(s) in | Assessed | HGNC:4883 | ENSG00000000971 | 134370 | 1q31.3 | complement factor H | 18252232[PMID] |
| CFI | Disease-causing germline mutation(s) in | Assessed | HGNC:5394 | ENSG00000205403 | 217030 | 4q25 | complement factor I | 25986072[PMID] |
| EFEMP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3218 | ENSG00000115380 | 601548 | 2p16.1 | EGF-like fibulin extracellular matrix protein 1 | 19850834[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
20 annotations · validated 2021-09-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0030499 | Macular drusen | |
| HP:0030500 | Yellow/white lesions of the macula | |
| Very frequent (99-80%) | ||
| HP:0007754 | Macular dystrophy | |
| HP:0007937 | Reticular pigmentary degeneration | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0030631 | Hyperautofluorescent macular lesion | |
| HP:0030632 | Hypoautofluorescent macular lesion | |
| HP:0011509 | Macular hyperpigmentation | |
| HP:0012508 | Metamorphopsia | |
| HP:0030629 | Perifoveal ring of hyperautofluorescence | |
| Occasional (29-5%) | ||
| HP:0011506 | Choroidal neovascularization | |
| HP:0012231 | Exudative retinal detachment | |
| HP:0007793 | Granular macular appearance | |
| HP:0007401 | Macular atrophy | |
| HP:0025574 | Macular hemorrhage | |
| HP:0030528 | Paracentral scotoma | |
| HP:0007950 | Peripapillary chorioretinal atrophy | |
| HP:0000613 | Photophobia | |
| HP:0031526 | Subretinal fluid | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 33689237[PMID]_32971684[PMID]_30578491[PMID]_28088509[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75376
- This record as JSON: /data/d/75376.json