Progressive retinal dystrophy due to retinol transport defect

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Retinol dystrophy-iris coloboma-comedogenic acne syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

Newly diagnosed with
Progressive retinal dystrophy due to retinol transport defect?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.