Late-onset retinal degeneration
Synonyms: Autosomal dominant late-onset retinal degeneration · LORD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late-onset retinal degeneration | Autosomal dominant late-onset retinal degeneration · LORD |
| fr | Dégénérescence rétinienne d'apparition tardive | Dégénérescence rétinienne d'apparition tardive autosomique dominante |
| de | Netzhautdystrophie, spät beginnende | LORD · Netzhautdystrophie, autosomal-dominante, spät beginnende |
| es | Degeneración retiniana de inicio tardío | |
| it | Degenerazione retinica a esordio tardivo | Degenerazione retinica a esordio tardivo, autosomica dominante · LORD |
| nl | Retinadegeneratie met late aanvang | Autosomaal dominante retinadegeneratie met late aanvang · LORD |
| pt | Degenerescência retiniana de início tardio | Degenerescência retiniana de início tardio autossómica dominante · LORD |
| pl | Zwyrodnienie siatkówki o późnym początku | Autosomalne dominujące zwyrodnienie siatkówki o późnym początku · LORD |
| cs | Retinální degenerace s pozdním nástupem | LORD · Autozomálně dominantní retinální degenerace s pozdním nástupem |
| uk | Пізня дегенерація сітківки | Аутосомно-домінантна пізня дегенерація сітківки · LORD |
| zh | 晚发性视网膜变性 | 常染色体显性遗传性晚发性视网膜变性 |
| tr | Geç başlangıçlı retina dejenerasyonu | KRAL · Otozomal dominant geç başlangıçlı retina dejenerasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605670 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0011579 | E | validated | |
| MeSH | C565309 | E | validated | |
| UMLS | C1854065 | E | validated | |
| GARD | 4357 | 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 (3):
- ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders - 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 |
|---|---|---|---|---|---|---|---|---|
| C1QTNF5 | Disease-causing germline mutation(s) in | Assessed | HGNC:14344 | ENSG00000223953 | 608752 | 11q23.3 | C1q and TNF related 5 | 12944416[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
22 annotations · validated 2021-09-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030534 | Abnormal best corrected visual acuity test | |
| Frequent (79-30%) | ||
| HP:0000533 | Chorioretinal atrophy | |
| HP:0011506 | Choroidal neovascularization | |
| HP:0011510 | Drusen | |
| HP:0000608 | Macular degeneration | |
| HP:0031530 | Multifocal subretinal deposits | |
| HP:0000662 | Nyctalopia | |
| HP:0007791 | Patchy atrophy of the retinal pigment epithelium | |
| HP:0001141 | Severely reduced visual acuity | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0004328 | Abnormal anterior eye segment morphology | |
| HP:0012628 | Abnormal suspensory ligament of lens morphology | |
| HP:0001099 | Fundus atrophy | |
| HP:0001089 | Iris atrophy | |
| HP:0012805 | Iris transillumination defect | |
| HP:0007401 | Macular atrophy | |
| HP:0500087 | Peripapillary atrophy | |
| HP:0000613 | Photophobia | |
| HP:0000642 | Red-green dyschromatopsia | |
| HP:0000552 | Tritanomaly | |
| Very rare (<4-1%) | ||
| HP:0100014 | Epiretinal membrane | |
| HP:0007906 | Ocular hypertension | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30578496[PMID]_31385385[PMID]_33949280[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/67042
- This record as JSON: /data/d/67042.json