Eye :: Journal theme issue highlights advances in eye disease genetics

Research on the genetic basis of eye diseases is enabling rapid progress in the diagnosis and treatment of these conditions, according to a series of articles on ophthalmic genetics in the February issue of Archives of Ophthalmology, one of the JAMA/Archives journals.

Articles in the issue, which is devoted to the topic of ophthalmic genetics, suggest that:
Rapid progress in identifying genes associated with retinitis pigmentosa, a group of diseases that cause the degeneration of cells in the retina and progressive vision loss, had led to a complex relationship between genes, mutations and clinical practice.
Collaboration between scientists in the fields of genetics, cell biology, physiology and other disciplines will answer questions about the functions of genes associated with eye diseases, benefiting patients with these conditions.
Heredity accounts for up to one-fourth of congenital cataract cases, and even some age-related cataracts, indicating that the study of genes will illuminate both.
The genetic basis has been discovered for half of all corneal dystrophies, diseases that cause degeneration of the membrane covering the pupil and iris; physicians treating patients with these conditions must possess a basic understanding of molecular genetics.
Knowledge of the genetic factors underlying strabismus (crossed eyes) could help identify patients at risk before they develop potentially untreatable amblyopia (lazy eye), and also lead to new prevention methods and treatments.
Genetic counseling can help patients interpret and make decisions based on the results of genetic tests for eye diseases.
The development of genetic tests to diagnose rare conditions and predict the risk for more common ones is exciting, but progressing more slowly than many imagined.

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