Leber congenital amaurosis 8
Findings
No curated finding names Leber congenital amaurosis 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013453), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Eye pokingHPOHP:0001483
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 22 of 22 reported patients
- NystagmusHPOHP:0000639
- 18 of 19 reported patients
- High hypermetropiaHPOHP:0008499
- 15 of 22 reported patients
- Nummular pigmentation of the retinaHPOHP:0030505
- 10 of 17 reported patients
- Undetectable electroretinogramHPOHP:0000550
- 7 of 12 reported patients
- Chorioretinal atrophyHPO
Genes
1 gene
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.
- CRB1HGNC:2343
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: Leber congenital amaurosis 8
- Also called
- CRB1 Leber congenital amaurosisLCA8Leber congenital amaurosis caused by mutation in CRB1Leber congenital amaurosis type 8