Crumbs homolog 1 (CRB1) 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; Edwin M Stone

doi:10.1093/hmg/ddg117

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

Journal article

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Crumbs homolog 1 (CRB1) 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

Human molecular genetics, Vol.12(9), pp.1073-1078

05/01/2003

DOI: 10.1093/hmg/ddg117

PMID: 12700176

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Abstract

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.

Membrane Proteins - genetics

Humans

Middle Aged

Retina - abnormalities

Male

Nerve Tissue Proteins

Retina - embryology

Optic Nerve - abnormalities

Eye Proteins

Details

Title: Subtitle: Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
Creators: Samuel G Jacobson - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA. jacobsos@mail.med.upenn.edu
Artur V Cideciyan
Tomas S Aleman
Michael J Pianta
Alexander Sumaroka
Sharon B Schwartz
Elaine E Smilko
Ann H Milam
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.12(9), pp.1073-1078
DOI: 10.1093/hmg/ddg117
PMID: 12700176
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: EY13729 / NEI NIH HHS EY13203 / NEI NIH HHS EY13385 / NEI NIH HHS
Language: English
Date published: 05/01/2003
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980299002771

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