CRB1-Associated Diseases

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Mutations in CRB1 are a relatively common cause of several inherited retinal degenerations, including: Leber congenital amaurosis (LCA) retinitis pigmentosa (RP), and macular dystrophy (MD).

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About the Disease

Mutations in CRB1 are a relatively common cause of several inherited retinal degenerations, including: Leber congenital amaurosis (LCA) retinitis pigmentosa (RP), and macular dystrophy (MD).

CRB1 is a protein encoded by the CRB1 gene. CRB1 is essential for the structure of the outer limiting membrane, a band of structural support connecting photoreceptors and muller glia in the retina.  CRB1 is also involved in controlling retinal cell numbers and cellular organization.

Symptoms

The exact onset, symptoms, and prognosis are often different for each person and depend on the disease they have been diagnosed with. In general, CRB1-associated LCA onsets at birth or in early childhood, whereas CRB1-associated RP onsets in the first two decades of life. CRB1-associated macular dystrophies tend to onset later.  Researchers still do not understand why mutations in CRB1 can cause different diseases and variability in symptoms. 

How the Disease is Inherited

CRB1-associated disease is usually inherited in an autosomal recessive manner. This means a person must have two damaging CRB1 mutations to experience symptoms and disease. A person with CRB1-associated disease will not have any affected children unless their partner also carries a CRB1 mutation.

To date, more than 300 damaging mutations in CRB1 have been identified and linked to retinal disease.

Living with the Disease

There are many services and accommodative and assistive resources available to people and families with a CRB1-associated disease. Visit the Foundation’s Low Vision Resources page to learn about many of these resources. A low vision specialist can help recommend the resources that are right for you.

More information on living with CRB1-associated disease is in the Newly Diagnosed section of this website.

Research & Clinical Trials

There are currently no clinical trials that are specifically focused on CRB1-associated disease, though there are some gene agnostic therapies in or nearing clinical trials that might be relevant to people with CRB1-associated retinal disease.

1999 – Mutations in CRB1 identified as a cause of RP (Foundation funding contributed to this work). 2001 – Mutations in CRB1 identified as a cause of LCA (Foundation funding contributed to this work). 2003 – Mutations in Crb1 identified as responsible for retinal phenotype in the rd8 mouse strain. 2009 – Cell therapy tested in Crb1 mouse models. 2014 – Mutations in Crb1 identified as causing maculopathy (Foundation funding contributed to this work). 2015 – Gene therapy tested in Crb1 mouse model (Foundation funding contributed to this work). 2017 – CRB1 retrospective natural history study published. 2019 – CRB1 patient retinal organoid models created (Foundation funding contributed to this work). 2020 – Multiple CRB1 isoforms identified in humans. 2022 – CRB1 2-year prospective natural history study published. 2023 – Gene therapy tested in CRB1 patient retinal organoids. 2024 – Link between CRB1-associated disease and gut bacteria proposed.

CRB1 Landscape Document 

The CRB1 Landscape Document provides an overview of Crumbs homolog-1/CRB1 at multiple levels: the gene, the protein, its function, and the epidemiology and clinical manifestations of CRB1-associated disease, as well as potential treatment strategies, with a focus on the retina. It provides a framework for researchers and companies to identify key gaps and bottlenecks, with the goal of addressing them to advance treatments and therapies for CRB1-associated disease. 

If you would like to receive a copy of the CRB1 Landscape Document and additional CRB1-related information, visit the CRB1 Landscape Document request page.

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