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Bulgarian Review of Ophthalmology

Ophthalmogenetical counseling in Postgenomic Era

A. Popova


Oftalmogenetical counseling is a form of primary prevention of low vision and blindness from hereditary eye diseases.

Purpose and object of the study: We present new developments of ophthalmic genetic counseling in the post-genome era, including our country. The subject are personally examined children aged newborn to 18 years, with hereditary eye diseases and their blood relatives passed Children's Eye Department and Children's eye surgery at the University Hospital "Aleksandrovska" - Sofia for the past 25 years.

Methods: All the routine, but indications specialized ophthalmic methods, combined with genealogy and modified twin analysis applied in our country for the diagnosis of patients with hereditary or suspected hereditary eye disease. A majority of patients are consulted, tested and diagnosed, including molecular genetic level, in the Department of Genetics (Sofia), Department of Medical Genetics (Sofia) and the Clinic "Malinov" (Sofia).

Results: The introduction of new, high-tech methods in ophthalmology in recent years has improved early clinical diagnosis of a number of inherited eye diseases. After completion of the Human Genome Project (2003) to date (2015) constantly changes occur in medical genetic counseling, respectively in oftalmogenetical counseling.

Conclusion: The study of the ocular pathology with new high-tech methods of clinical level, including at the molecular level rises to a new stage oftalmogenetical counseling in our country.


hereditary eye diseases; medical genetic counseling; ophthalmogenetical counseling

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* Книгописът от 251 публикации /104 български/ и 1113 след 2000 г./ е на разположение на интересуващите се и се намира в автора.



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About The Author

A. Popova
Alexandrovska University Hospital, Sofia