Open AccessGenetics for the ophthalmologist
Author(s) -
Karthikeyan Arcot Sadagopan,
Jenina E. Capasso,
Alex V. Levin
Publication year - 2012
Publication title -
oman journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.306
H-Index - 16
eISSN - 0974-7842
pISSN - 0974-620X
DOI - 10.4103/0974-620x.106092
Subject(s) - medicine , retinoblastoma , albinism , genetic counseling , fundus (uterus) , hereditary diseases , medical genetics , genetic testing , genetics , referral , bioinformatics , dermatology , pathology , gene , ophthalmology , biology , disease , family medicine
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.