progressive retinal dystrophy due to retinol transport defect
MONDO:0014060Mondo
Findings
No curated finding names progressive retinal dystrophy due to retinol transport defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Absent foveal reflexHPOHP:0030825
- 2 of 2 reported patients
- Comedonal acneHPOHP:0040137
- 2 of 2 reported patients
- Decreased circulating retinol-binding protein concentrationHPOHP:0031032
- 2 of 2 reported patients
- Follicular hyperkeratosisHPOHP:0007502
- 2 of 2 reported patients
- Iris colobomaHPOHP:0000612
- 2 of 2 reported patients
- NyctalopiaHPOHP:0000662
- 2 of 2 reported patients · Childhood onset
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- TritanomalyHPOHP:0000552
- 2 of 2 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.
- RBP4HGNC:9922
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: progressive retinal dystrophy due to retinol transport defect
- Also called
- retinol dystrophy-iris coloboma-comedogenic acne syndrome