Journal Article

<i>Crumbs homolog 1 (CRB1)</i> mutations result in a thick human retina with abnormal lamination

Samuel G. Jacobson, Artur V. Cideciyan, Tomas S. Aleman, Michael J. Pianta, Alexander Sumaroka, Sharon B. Schwartz, Elaine E. Smilko, Ann H. Milam, Val C. Sheffield and Edwin M. Stone

in Human Molecular Genetics

Volume 12, issue 9, pages 1073-1078
Published in print May 2003 | ISSN: 0964-6906
Published online May 2003 | e-ISSN: 1460-2083 | DOI:
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

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Mutations in CRB1, the human homolog of Drosophila Crumbs, cause autosomal recessive blinding disorders of the retina. Whereas Crumbs is implicated in apical-basal epithelial polarity and photoreceptor morphogenesis, the role of CRB1 in normal or diseased retina remains unclear. We characterized the retinal organization in vivo of patients with CRB1 mutations and found that, unlike other inherited retinal degenerations studied to date, the CRB1 mutant retinas are remarkably thick in cross-section and lack the distinct layers of normal adult retina. There are coarse outer and inner zones and a thick surface layer around the optic nerve. The abnormal retinal architecture in CRB1 mutations resembles that of immature normal retina. The results suggest that the CRB1 disease pathway disturbs the development of normal human retinal organization by interrupting naturally occurring apoptosis.

Journal Article.  4646 words.  Illustrated.

Subjects: Genetics and Genomics

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