Genetics in Ophthalmology III – Posterior Segment Diseases
Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field of genetics science. It becomes increasingly...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2012-10-01
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| Series: | Türk Oftalmoloji Dergisi |
| Subjects: | |
| Online Access: | http://www.oftalmoloji.org/article_2195/Genetics-In-Ophthalmology-Iii-Posterior-Segment-Diseases |
| _version_ | 1797919046304268288 |
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| author | Canan Aslı Utine Gülen Eda Utin |
| author_facet | Canan Aslı Utine Gülen Eda Utin |
| author_sort | Canan Aslı Utine |
| collection | DOAJ |
| description | Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today,
the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field of genetics science. It becomes
increasingly important that physicians from all disciplines have knowledge about the basic principles of genetics, patterns of inheritance, etc.,
so that they can follow the new developments. In genetic eye diseases, ophthalmologists should know the basic clinical and recently rapidly
developing genetic characteristics of these diseases in order to properly approach the diagnosis and treatment and to provide genetic counseling.
In this paper, posterior segment eye diseases of genetic origin are reviewed, and retinoblastoma, mitochondrial diseases, retinal dysplasia,
retinitis pigmentosa, choroideremia, gyrate atrophy, Alström disease, ocular albinism, optic nerve hypoplasia, anophthalmia/microphthalmia
and Leber’s congenital amaurosis are covered. (Turk J Ophthalmol 2012; 42: 386-92) |
| first_indexed | 2024-04-10T13:40:24Z |
| format | Article |
| id | doaj.art-aa679125be9a420fb414183e8082437c |
| institution | Directory Open Access Journal |
| issn | 1300-0659 2147-2661 |
| language | English |
| last_indexed | 2024-04-10T13:40:24Z |
| publishDate | 2012-10-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Oftalmoloji Dergisi |
| spelling | doaj.art-aa679125be9a420fb414183e8082437c2023-02-15T16:11:13ZengGalenos YayineviTürk Oftalmoloji Dergisi1300-06592147-26612012-10-0142538639210.4274/tjo.42.52824Genetics in Ophthalmology III – Posterior Segment DiseasesCanan Aslı Utine0Gülen Eda Utin1Yeditepe Üniversitesi Tıp Fakültesi Göz Hastalıkları Anabilim Dalı, İstanbul, TürkiyeHacettepe Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Klinik Genetik Ünitesi, Ankara, TürkiyeGenetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field of genetics science. It becomes increasingly important that physicians from all disciplines have knowledge about the basic principles of genetics, patterns of inheritance, etc., so that they can follow the new developments. In genetic eye diseases, ophthalmologists should know the basic clinical and recently rapidly developing genetic characteristics of these diseases in order to properly approach the diagnosis and treatment and to provide genetic counseling. In this paper, posterior segment eye diseases of genetic origin are reviewed, and retinoblastoma, mitochondrial diseases, retinal dysplasia, retinitis pigmentosa, choroideremia, gyrate atrophy, Alström disease, ocular albinism, optic nerve hypoplasia, anophthalmia/microphthalmia and Leber’s congenital amaurosis are covered. (Turk J Ophthalmol 2012; 42: 386-92)http://www.oftalmoloji.org/article_2195/Genetics-In-Ophthalmology-Iii-Posterior-Segment-DiseasesGeneticsgenetic counselinggenetic eye diseases |
| spellingShingle | Canan Aslı Utine Gülen Eda Utin Genetics in Ophthalmology III – Posterior Segment Diseases Türk Oftalmoloji Dergisi Genetics genetic counseling genetic eye diseases |
| title | Genetics in Ophthalmology III – Posterior Segment Diseases |
| title_full | Genetics in Ophthalmology III – Posterior Segment Diseases |
| title_fullStr | Genetics in Ophthalmology III – Posterior Segment Diseases |
| title_full_unstemmed | Genetics in Ophthalmology III – Posterior Segment Diseases |
| title_short | Genetics in Ophthalmology III – Posterior Segment Diseases |
| title_sort | genetics in ophthalmology iii posterior segment diseases |
| topic | Genetics genetic counseling genetic eye diseases |
| url | http://www.oftalmoloji.org/article_2195/Genetics-In-Ophthalmology-Iii-Posterior-Segment-Diseases |
| work_keys_str_mv | AT cananaslıutine geneticsinophthalmologyiiiposteriorsegmentdiseases AT gulenedautin geneticsinophthalmologyiiiposteriorsegmentdiseases |