The Genetics of Hereditary Retinopathies and Optic Neuropathies

Alessandro Iannaccone, MD, MS


Compr Ophthalmol Update. 2005;6(1):39-62. 

In This Article


This update illustrated the progress in the understanding of the molecular causes of hereditary retinal and optic nerve diseases that has occurred in the past few years. This new knowledge offers now the exciting opportunity to increase our understanding of disease-causing mechanisms, develop better ways to distinguish disease subtypes in the clinical setting, and devise rational treatment strategies. It also opens the door to systematic molecular characterization of affected patients, not only to verify uncertain or ambiguous phenotypes with unprecedented diagnostic accuracy, but also to begin accruing detailed information in databases of molecularly verified cases of rare diseases that will lay the ground for forthcoming multicenter studies and trials. Indeed, in the not-too-distant future, characterization of patients with hereditary eye disease by the Clinical Laboratory Improvement Amendments Act of 1988 (CLIA)-certified molecular genetic diagnostic laboratories may also become of crucial therapeutic relevance, if the potential benefits of gene therapy or other targeted treatments for hereditary retinal and optic nerve disorders are to be offered to affected patients.

To take advantage in full of these molecular advances, an accurate clinical, functional, and medical genetic work-up of the patient with a hereditary eye disease remains indispensable to the formulation of the correct clinical diagnosis, as this precedes molecular verification. Not only will formulating the correct diagnosis in genetic eye disease have immediate important counseling and, at times, prognostic implications, but it also will streamline genetic investigations, leading to faster, more efficient, more cost-effective molecular testing. To this end, awareness of the systemic hallmarks of numerous syndromes of ophthalmologic interest is especially important in recognizing them and gives the ophthalmologist the opportunity to play a fundamental role in the diagnostic process and management of these conditions.

It is hoped that this bedside-to-bench-to-bedside theoretical virtuous cycle that lies ahead of us will receive all the support it needs from federal agencies, private foundations, and academic institutions alike, so that it will soon become possible to offer the benefits of the remarkable recent progress in this field back to the patients who are affected with these disorders, which remain otherwise incurable for the most part.


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