ornithine aminotransferase deficiency
Findings
No curated finding names ornithine aminotransferase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.
Definition from the Mondo Disease Ontology (MONDO:0009796), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- Chorioretinal atrophyHPOHP:0000533
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- FoveoschisisHPOHP:0012152
- 1 of 1 reported patient
- HyperornithinemiaHPOHP:0012026
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Macular thickeningHPOHP:0030498
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 1 of 1 reported patient
- Visual impairmentHPOHP:0000505
- 1 of 1 reported patient
Show the remaining 7
- Chorioretinal hyperpigmentationHPOHP:0040031
- Frequent (30% to 79% of cases)
- Constriction of peripheral visual fieldHPOHP:0001133
- Frequent (30% to 79% of cases)
- Progressive night blindnessHPOHP:0007675
- Frequent (30% to 79% of cases)
- Subcapsular cataractHPOHP:0000523
- Frequent (30% to 79% of cases)
- Abnormal hair morphologyHPOHP:0001595
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
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.
- OATHGNC:8091
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: ornithine aminotransferase deficiency
- Also called
- GACRgyrate atrophygyrate atrophy of choroid and retina with or without ornithinemiaHOGAhyperornithinemiahyperornithinemia-gyrate atrophy of choroid and retina syndrome