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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Broman, Karl W. Leppert, Gregory S. Santos, Luisa Coutinho Weinberg, Ethan M. Sunness, Janet S. Silva, Eduardo D. Yang, Jun-ming Maumenee, Irene H. Traboulsi, Elias I. Dibernardo, Cathy Dharmaraj, Sharola Sundin, Olof H. Parsa, Cameron F. Toy, Jeffrey |
| Description | Author Affiliation: Sundin OH ( Laboratory of Developmental Genetics, The Johns Hopkins University, Baltimore, MD 21287, USA. osundin@jhmi.edu); |
| Abstract | Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in the range of +8.00 to +25.00 diopters. Because the cornea and lens are normal in size and shape, hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. Thickening of these tissues is a general feature of axial hyperopia, whereas the opposite occurs in myopia. We have mapped recessive nanophthalmos to a unique locus at 11q23.3 and identified four independent mutations in MFRP, a gene that is selectively expressed in the eye and encodes a protein with homology to Tolloid proteases and the Wnt-binding domain of the Frizzled transmembrane receptors. This gene is not critical for retinal function, as patients entirely lacking MFRP can still have good refraction-corrected vision, produce clinically normal electro-retinograms, and show only modest anomalies in the dark adaptation of photoreceptors. MFRP appears primarily devoted to regulating axial length of the eye. It remains to be determined whether natural variation in its activity plays a role in common refractive errors. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 27 |
| Volume Number | 102 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 2005-07-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chromosomes, Human, Pair 11 Genetics Eye Pathology Hyperopia Membrane Proteins Mutation Animals Chromosome Mapping Dark Adaptation Electroretinography Metabolism Genes, Recessive Genetic Linkage Haplotypes Mice Pedigree Sequence Analysis, DNA Ultrasonography Comparative Study Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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