Ophthalmic Molecular Genetics and Eye Diseases

Dear Colleagues,

Ophthalmology has played a special role in the development of human genetics. It is one of the two most common clinical specialties alongside neurology to be involved in genetic disorders. 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 featured.

Although hereditary eye diseases are rare, genetic factors are a significant cause of childhood blindness and lead to visual impairment in adults globally. The OMIM database currently includes 1600 inherited human diseases with significant eye pathology, and the RetNet database lists over 300 genes responsible for retinal dystrophies only. For these reasons, genetically determined diseases of the visual system deserve a separate subspecialty in clinical genetics: ophthalmogenetics.

Advances in molecular genetics over the past three decades have helped to identify a substantial number of genetic variants and conditions known to contribute to eye diseases. This gives a chance for precise diagnosis and the best possible management, including genetic counselling, for our patients. Advances in gene therapy maintain extensive promise for the cure of hereditary ophthalmic condition.

Papers addressing these topics are invited for this Special Issue, especially those combining a high academic standard coupled with a practical focus on the clinical aspects of hereditary eye diseases.

Prof. Dr. Maciej R. Krawczyński
Dr. Anna Wawrocka
Guest Editors

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• ophthalmogenetics
• inherited retinal dystrophies
• hereditary optic neuropathies
• eye malformations
• gene therapy in ocular disorders