EXCERPT
Recent discoveries in the field of genetics affect the everyday practice of pediatric ophthalmology. In this issue of the Journal of Pediatric Ophthalmology and Strabismus, Bollinger and Traboulsi review both basic genetics and the principles of molecular genetics that provide pediatric ophthalmologists with a foundation for diagnosing and treating their patients. Not so long ago, clinicians relied completely on family pedigree and ocular findings to make a diagnosis. Recognizing iris transillumination in a patient with X-linked ocular albinism comes to mind. While these basics remain the cornerstone of diagnosing genetic disorders, exciting new information is now available. The complete human genome was mapped in 2001 and more than 30,000 genes have been identified. In the future, it may be possible to provide diagnoses based solely on genetic methodology. One example of recently developed technology for use in genetic analysis is the Leber congenital amaurosis microarray. With this technology, all known mutations (ie, more than 30 mutations on 7 genes) for a given disease such as Leber congenital amaurosis are represented on a single glass slide. One DNA sample can be applied to the slide for screening.
