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GTR Home > Conditions/Phenotypes > Progressive retinal dystrophy due to retinol transport defect

Progressive retinal dystrophy due to retinol transport defect

Synonyms
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported. [from ORDO]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCOPCB10, RDCCAS, RBP4
    Summary: retinol binding protein 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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