Progressive retinal dystrophy due to retinol transport defect
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 http://www.orphadata.org. Data version April 2024
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Progressive retinal dystrophy due to retinol transport defect?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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