ORPHA:364055
Severe early-childhood-onset retinal dystrophy
Synonyms: EOSRD · Early-onset severe retinal dystrophy · SECORD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe early-childhood-onset retinal dystrophy | EOSRD · Early-onset severe retinal dystrophy · SECORD |
| fr | Dystrophie rétinienne sévère de l'enfance | EOSRD · SECORD |
| de | Schwere Netzhautdystrophie mit Beginn in früher Kindheit | Frühbeginnende schwere Netzhautdystrophie · SECORD · Schwere frühkindliche Netzhautdegeneration · EOSRD |
| es | Distrofia retiniana grave de inicio en la infancia temprana | Distrofia retiniana grave de inicio precoz · EOSRD · SECORD |
| it | Distrofia retinica grave a esordio nella prima infanzia | Distrofia retinica grave a esordio precoce · EOSRD · SECORD |
| nl | Ernstige retinale dystrofie met aanvang in de vroege kindertijd | EOSRD · SECORD · Vroeg beginnende ernstige retinale dystrofie |
| pt | Distrofia da retina grave com início precoce na infância | |
| pl | Ciężka dystrofia siatkówki o początku w wieku wczesnodziecięcym | Ciężka dystrofia siatkówki o wczesnym początku · EOSRD · SECORD |
| cs | Těžká dystrofie sítnice s časným nástupem | EOSRD · SECORD · Těžká dystrofie sítnice s časným nástupem v dětském věku |
| uk | Тяжка дистрофія сітківки, що починається в ранньому дитинстві | Рання важка дистрофія сітківки · EOSRD · SECORD |
| zh | 儿童早期重度视网膜营养不良 | 早发性严重视网膜营养不良 |
| tr | Erken çocukluk döneminde başlayan ağır retina distrofisi | EOSRD · SECORD · Erken-başlangıçlı ağır retina distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608133 | NTBT | validated | |
| OMIM | 610125 | NTBT | validated | |
| OMIM | 614186 | NTBT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | attributed | validated |
| MONDO | 0009549 | E | validated | |
| MeSH | C565741 | E | validated | |
| UMLS | C1858080 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:730376Rare acquired isolated progressive generalized retinal disorder
rare ophthalmic disorders - ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALMS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:428 | ENSG00000116127 | 606844 | 2p13.1 | ALMS1 centrosome and basal body associated protein | 40294858[PMID] |
| CABP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1386 | ENSG00000175544 | 608965 | 11q13.2 | calcium binding protein 4 | 40294858[PMID] |
| KCNJ13 | Disease-causing germline mutation(s) in | Assessed | HGNC:6259 | ENSG00000115474 | 603208 | 2q37.1 | potassium inwardly rectifying channel subfamily J member 13 | 40294858[PMID] |
| LCA5 | Disease-causing germline mutation(s) in | Assessed | HGNC:31923 | ENSG00000135338 | 611408 | 6q14.1 | lebercilin LCA5 | 23946133[PMID] |
| LRAT | Disease-causing germline mutation(s) in | Assessed | HGNC:6685 | ENSG00000121207 | 604863 | 4q32.1 | lecithin retinol acyltransferase | 22570351[PMID] |
| OTX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 40294858[PMID] |
| PRPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | 23847139[PMID] |
| RPE65 | Disease-causing germline mutation(s) in | Assessed | HGNC:10294 | ENSG00000116745 | 180069 | 1p31.3 | retinoid isomerohydrolase RPE65 | |
| SPATA7 | Disease-causing germline mutation(s) in | Assessed | HGNC:20423 | ENSG00000042317 | 609868 | 14q31.3 | spermatogenesis associated 7 | 21310915[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | Pr Birgit LORENZ[EXPERT]_Dr Markus PREISING[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
33 annotations · validated 2021-05-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001103 | Abnormal macular morphology | |
| HP:0007695 | Abnormal pupillary light reflex | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0007843 | Attenuation of retinal blood vessels | |
| HP:0007737 | Bone spicule pigmentation of the retina | |
| HP:0000551 | Color vision defect | |
| HP:0000662 | Nyctalopia | |
| HP:0000639 | Nystagmus | |
| HP:0012426 | Optic disc drusen | |
| HP:0000543 | Optic disc pallor | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000546 | Retinal degeneration | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| HP:0000550 | Undetectable electroretinogram | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0011488 | Abnormal corneal endothelium morphology | |
| HP:0000622 | Blurred vision | |
| HP:0000533 | Chorioretinal atrophy | |
| HP:0012434 | Delayed social development | |
| HP:0000577 | Exotropia | |
| HP:0007793 | Granular macular appearance | |
| HP:0001116 | Macular coloboma | |
| HP:0011342 | Mild global developmental delay | |
| HP:0000545 | Myopia | |
| HP:0000613 | Photophobia | |
| HP:0007787 | Posterior subcapsular cataract | |
| HP:0011484 | Posterior synechiae of the anterior chamber | |
| HP:0002172 | Postural instability | |
| HP:0000541 | Retinal detachment | |
| HP:0007722 | Retinal pigment epithelial atrophy | |
| HP:0002317 | Unsteady gait | |
| Very rare (<4-1%) | ||
| HP:0012230 | Rhegmatogenous retinal detachment | |
Annotation source: 28689169[PMID]_32865313[PMID]_30150358[PMID]_20811047[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/364055
- This record as JSON: /data/d/364055.json