choroideremia
Findings
No curated finding names choroideremia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
Definition from the Mondo Disease Ontology (MONDO:0010557), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 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
- 20 of 20 reported patients
- Occasional (5% to 29% of cases)
- Constriction of peripheral visual fieldHPOHP:0001133
- 3 of 3 reported patients · Middle age onset
- Frequent (30% to 79% of cases)
- Fundus hypopigmentationHPOHP:0007894
- 4 of 4 reported patients
- NyctalopiaHPOHP:0000662
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Pigmentary retinopathyHPOHP:0000580
- 4 of 4 reported patients
- Progressive visual lossHPOHP:0000529
- 3 of 3 reported patients · Middle age onset
Show the remaining 10
- Peripheral visual field lossHPOHP:0007994
- Frequent (30% to 79% of cases)
- Spicular pigmentation of the retinaHPOHP:0007737
- 3 of 6 reported patients
- Abnormal fundus autofluorescence imagingHPOHP:0030602
- Occasional (5% to 29% of cases)
- Choroidal neovascularizationHPOHP:0011506
- Occasional (5% to 29% of cases)
- Color vision defectHPOHP:0000551
- Occasional (5% to 29% of cases)
- Macular edemaHPOHP:0040049
- 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.
- CHMHGNC:1940
- Definitive · ClinGen · X-linked · 2020
- Definitive · Illumina · X-linked · 2017
- Definitive · G2P · X-linked · 2017
- Definitive · Natera · X-linked · 2022
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
- Narrower terms (2)
Other names
3 names
Resolves to: choroideremia
- Also called
- CHMprogressive choroidal atrophyTapetochoroidal dystrophy