Leber congenital amaurosis 6
Findings
No curated finding names Leber congenital amaurosis 6 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 RPGRIP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013446), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
39 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 electroretinogramHPOHP:0000512
- 34 of 34 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 6 of 6 reported patients
- Flat corneaHPOHP:0007720
- 1 of 1 reported patient
- Focal retinal arteriolar constrictionHPOHP:0008043
- 1 of 1 reported patient
- Foveal atrophyHPOHP:0025010
- 1 of 1 reported patient
- Moderately reduced visual acuityHPOHP:0030515
- 2 of 2 reported patients
- Reduced visual acuityHPO
Show the remaining 27
- Retinal degenerationHPOHP:0000546
- 19 of 20 reported patients
- HypermetropiaHPOHP:0000540
- 36 of 39 reported patients
- Very low visual acuityHPOHP:0032122
- 35 of 39 reported patients
- NyctalopiaHPOHP:0000662
- 6 of 7 reported patients
- Chorioretinal atrophyHPOHP:0000533
- 4 of 5 reported patients
- StrabismusHPOHP:0000486
- 4 of 5 reported patients
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.
- RPGRIP1HGNC:13436
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: Leber congenital amaurosis 6
- Also called
- LCA6Leber congenital amaurosis caused by mutation in RPGRIP1Leber congenital amaurosis type 6RPGRIP1 Leber congenital amaurosis