| Field | Value | Notes / Evidence |
|---|---|---|
| Disease name | Leber congenital amaurosis 10 (LCA10) | CEP290-associated subtype of Leber congenital amaurosis; severe inherited retinal degeneration (pqac-00000001, pqac-00000003) |
| Disease class | Mendelian inherited retinal disease; ciliopathy | Autosomal recessive retinal ciliopathy caused by biallelic CEP290 loss-of-function variants (pqac-00000001, pqac-00000012) |
| OMIM | LCA: **#204000**; **CEP290** gene: **610142** | General LCA OMIM and causal gene OMIM reported in cohort/review sources (pqac-00000007, pqac-00000012) |
| MONDO ID | **MONDO_0018998** | MONDO identifier retrieved for Leber congenital amaurosis in disease-target association context (pqac-00000000) |
| Orphanet | Not confidently established from retrieved evidence | Disease-level rare disease resource exists for LCA broadly, but no subtype-specific Orphanet identifier for LCA10 was confirmed in retrieved sources |
| ICD-10 / ICD-11 | Not confidently established from retrieved evidence | LCA is typically coded within congenital retinal dystrophy/blindness frameworks, but no LCA10-specific ICD code was confirmed in retrieved sources |
| Common synonyms | LCA10; CEP290-associated LCA; CEP290-related retinal degeneration; CEP290-associated inherited retinal degeneration | Synonyms used across review and trial literature (pqac-00000001, pqac-00000018, pqac-00000021) |
| Causal gene | **CEP290** (centrosomal protein 290) | Top disease-associated target for LCA in Open Targets; encodes a transition-zone/basal body ciliary protein (pqac-00000000, pqac-00000009, pqac-00000012) |
| Most common pathogenic variant | **c.2991+1655A>G** (deep intronic; often called IVS26 variant; p.Cys998X consequence via cryptic exon) | Most frequent LCA10-associated variant; creates a cryptic exon and premature stop, reducing normal CEP290 transcript/protein (pqac-00000001, pqac-00000009, pqac-00000012) |
| Inheritance | **Autosomal recessive** | Typically due to biallelic pathogenic CEP290 variants (pqac-00000001, pqac-00000012) |
| Estimated prevalence | LCA overall about **1:30,000 to 1:80,000**; ~1:50,000 often cited in Europe/North America | Retrieved evidence provides LCA prevalence range; LCA10 is a major subtype, especially in Caucasian/Northern European cohorts (pqac-00000001, pqac-00000007, pqac-00000012) |
| Relative frequency within LCA | CEP290 accounts for about **15–30%** of LCA overall; **>20%** in several cohorts; **29%** among LCA cases in one German cohort | Frequency varies by ancestry and cohort (pqac-00000004, pqac-00000007, pqac-00000013) |
| Age at onset | **Congenital / early childhood** | Severe visual impairment usually recognized from birth or in early childhood; often childhood blindness (pqac-00000001, pqac-00000003, pqac-00000018) |
| Core phenotype summary | Severe early-onset cone-rod dystrophy with markedly reduced vision, nystagmus, extinguished or severely reduced ERG, hyperopia/photophobia, progressive photoreceptor degeneration | Common disease-level characteristics across reviews and cohorts (pqac-00000003, pqac-00000012) |
| Evidence source type | Aggregated disease-level literature and clinical trial/natural history resources, not EHR-derived | Based on reviews, cohort studies, mechanistic studies, clinical trials, and Open Targets disease-target evidence (pqac-00000000, pqac-00000001, pqac-00000021) |


*Table: This table summarizes the core identifiers and defining characteristics of Leber congenital amaurosis 10, including its causal gene, hallmark variant, inheritance, prevalence, and onset. It is useful as a compact disease knowledge base entry scaffold grounded in the retrieved evidence.*