Leber congenital amaurosis
Findings
No curated finding names Leber congenital amaurosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
Definition from the Mondo Disease Ontology (MONDO:0018998), read 2026-09-29. CC BY 4.0.
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal optic disc morphologyHPOHP:0012795
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Severely reduced visual acuityHPOHP:0001141
- Very frequent (80% to 99% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Frequent (30% to 79% of cases)
- Abnormal full-field electroretinogramHPOHP:0030466
- Frequent (30% to 79% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebellar vermisHPOHP:0006817
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- EncephaloceleHPOHP:0002084
- Frequent (30% to 79% of cases)
- Eye pokingHPOHP:0001483
- Frequent (30% to 79% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Frequent (30% to 79% of cases)
- HypermetropiaHPOHP:0000540
- Frequent (30% to 79% of cases)
Show the remaining 13
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- KeratoconusHPOHP:0000563
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- PhotophobiaHPOHP:0000613
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Slow pupillary light responseHPOHP:0030211
- Frequent (30% to 79% of cases)
Genes
25 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRPH2HGNC:9942
- Definitive · G2P · Autosomal recessive · 2017
- CCT2HGNC:1615
- Strong · G2P · Autosomal recessive · 2024
- Limited · Franklin by Genoox · Autosomal recessive · 2020
- LRATHGNC:6685
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- AIPL1HGNC:359
- Supportive · Orphanet · Autosomal dominant · 2021
- CEP290HGNC:29021
- · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (21)
- Leber congenital amaurosis 1
- Leber congenital amaurosis 10
- Leber congenital amaurosis 11
- Leber congenital amaurosis 12
- Leber congenital amaurosis 13
- Leber congenital amaurosis 14
- Leber congenital amaurosis 15
- Leber congenital amaurosis 16
- Leber congenital amaurosis 17
- Leber congenital amaurosis 18
- Leber congenital amaurosis 19
- Leber congenital amaurosis 2
- Leber congenital amaurosis 3
- Leber congenital amaurosis 4
- Leber congenital amaurosis 5
- Leber congenital amaurosis 6
- Leber congenital amaurosis 7
- Leber congenital amaurosis 8
- Leber congenital amaurosis 9
- Leber congenital amaurosis with early-onset deafness
Other names
1 name
Resolves to: Leber congenital amaurosis
- Also called
- amaurosis congenita of Leber