retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
MONDO:0014483Mondo
Findings
No curated finding names retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
6 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.
- Optic disc pallorHPOHP:0000543
- 9 of 9 reported patients
- PhotophobiaHPOHP:0000613
- 9 of 9 reported patients
- Reduced visual acuityHPOHP:0007663
- 9 of 9 reported patients
- Central scotomaHPOHP:0000603
- 8 of 9 reported patients
- NyctalopiaHPOHP:0000662
- 1 of 9 reported patients
- Retinal dystrophyHPOHP:0000556
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.
- ITM2BHGNC:6174
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
1 name
Resolves to: retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
- Also called
- retinal dystrophy with inner nuclear layer and ganglion cell anomalies