The Genetics of Hereditary Retinopathies and Optic Neuropathies

Alessandro Iannaccone, MD, MS


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

In This Article

Genetics of Retinal and Optic Nerve Diseases

In recent years, molecular genetic advances have impacted the understanding and the classification of hereditary retinal and optic nerve disease perhaps more than any other group of eye diseases, with over 150 distinct genes mapped and about 110 cloned as of January 2005 ( . Accessed January 7, 2005). Due to the enormity of the information that has become available during the past few years in this field, I will focus this section only on diseases with an identified genetic cause. With rare exceptions, no cure is yet available for any of these disorders. For the sake of brevity, diseases like gyrate atrophy or choroideremia, the genetic cause of which has been known since the early 1990s, will not be reviewed here nor will the genetics of the following disorders that have been recently reviewed comprehensively elsewhere: macular dystrophies;[2,3,4,5,6] mitochondrial diseases of ophthalmologic interest;[7,8,9] and neurodegenerative disorders that include ophthalmologic components, such as the Charcot-Marie-Tooth diseases and the spinocerebellar ataxia syndromes.[10,11,12,13] Readers are also referred to the Retinal Information Network ( . Accessed October 4, 2004), to the Online Mendelian Inheritance in Men ( . Accessed October 4, 2004) and to the NIH-sponsored GeneTests ( . Accessed October 4, 2004) websites for further information.


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