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Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene |
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| Authors: | Mariem Ben Said Ebtissem Chouchène Salma Ben Salem Kods Daoud Leila Largueche Walid Bouassida Zeineb Benzina Hammadi Ayadi Peter Söderkvist Leila Matri Mounira Hmani-Aifa |
| Institution: | 1. Laboratoire de microorganismes et biomolécules, Centre de Biotechnologie de Sfax, Tunisia;2. Institut Hedi Raies d''ophtalmologie de Tunis, Tunisia;3. Service d''Ophtalmologie, C.H.U. H. Bourguiba de Sfax, Tunisia;4. Division of Cell Biology, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping, Sweden |
| Abstract: | Congenital microphthalmia (CMIC) is a common developmental ocular disorder characterized by a small, and sometimes malformed, eye. Posterior microphthalmia (PM) and nanophthalmia are two rare subtypes of isolated CMIC characterized by extreme hyperopia due to short axial length and elevated lens/eye volume ratio. While nanophthalmia is associated with a reduced size in both anterior and posterior segments, PM involves a normal-size anterior chamber but a small posterior segment. |
| Keywords: | CMIC congenital microphthalmia PM posterior Microphthalmia SNP single nucleotide polymorphism A anophthalmia PRSS56 serine protease 56 MFRP membrane frizzled-related protein kb kilobase ng nanogram h hour DNA deoxyribonucleic acid PCR Polymerase Chain Reaction bp base pair |
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