الملخص
The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails), nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.
الكلمات المفتاحية
بيانات النشر
- المعرّف الرقمي
- 10.4103/0974-620x.106092
- المجلة
- المجلة العُمانية لطب العيون, 5(3), 144-149
- الناشر
- منشورات ميدنو
- وصول مفتوح
- وصول مفتوح ذهبي
اقتبس هذه المقالة
APA 7
Sadagopan, K. A., Capasso, J., & Levin, A. V. (2012). Genetics for the ophthalmologist. Oman Journal of Ophthalmology, 5(3), 144-149. https://doi.org/10.4103/0974-620x.106092
MLA 9
Sadagopan, Karthikeyan A, et al. "Genetics for the ophthalmologist." Oman Journal of Ophthalmology, vol. 5, no. 3, 2012, pp. 144-149. https://doi.org/10.4103/0974-620x.106092.
شيكاغو (المؤلف–التاريخ)
Sadagopan, Karthikeyan A, Jenina Capasso, and Alex V Levin. 2012. "Genetics for the ophthalmologist." Oman Journal of Ophthalmology 5 (3): 144-149. https://doi.org/10.4103/0974-620x.106092.
هارفارد
Sadagopan, K. A., Capasso, J. and Levin, A. V. (2012) 'Genetics for the ophthalmologist', Oman Journal of Ophthalmology, 5(3), pp. 144-149. doi:10.4103/0974-620x.106092.
فانكوفر
Sadagopan KA, Capasso J, Levin AV. Genetics for the ophthalmologist. Oman Journal of Ophthalmology. 2012;5(3):144-149. doi:10.4103/0974-620x.106092
IEEE
K. A. Sadagopan, J. Capasso, and A. V. Levin, "Genetics for the ophthalmologist," Oman Journal of Ophthalmology, vol. 5, no. 3, pp. 144-149, 2012, doi: 10.4103/0974-620x.106092.