Pediatric genetic disease of the cornea
| العنوان: | Pediatric genetic disease of the cornea |
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| المؤلفون: | Wendy W. Huang, Christopher M. Fecarotta |
| المصدر: | Journal of Pediatric Genetics. :195-207 |
| بيانات النشر: | IOS Press, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | medicine.medical_specialty, Keratoconus, genetic structures, business.industry, medicine.medical_treatment, Corneal Diseases, Corneal dystrophy, medicine.disease, Article, eye diseases, Surgery, Megalocornea, medicine.anatomical_structure, Cornea, Ophthalmology, Pediatrics, Perinatology and Child Health, Medicine, sense organs, Sclerocornea, business, Genetics (clinical), Corneal transplantation, Keratoglobus |
| الوصف: | Our objective is to evaluate the literature regarding selected genetic diseases of the cornea, including megalocornea, keratoglobus, keratoconus, cystinosis, the mucopolysaccharidoses, sclerocornea, Peters' anomaly, familial dysautonomia, and various corneal dystrophies. The transparency of the cornea is a consequence of uniformity in both size and spacing of the collagen lamellae. The cornea's clarity depends on a delicate biochemical and structural balance; consequently, genetic disorders that disrupt either its metabolic or anatomic function can cause opacity and vision loss. Many childhood corneal diseases have a genetic etiology and are associated with known syndromes. Each disorder has unique associated set of possible complications. Prognosis often depends on the extent of opacity and disorganization of the anterior segment. Corneal transplantation has been performed for these disorders with variable success. |
| تدمد: | 2146-460X 2146-4596 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d832ab535c6d011d5771b51405c57639Test https://doi.org/10.3233/pge-14102Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d832ab535c6d011d5771b51405c57639 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2146460X 21464596 |
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