Advances in the genetics of eye diseases.

PURPOSE OF REVIEW: An update on heritable eye disease will allow informed patient counseling and improved patient care.

RECENT FINDINGS: New loci and genes have been associated with identifiable heritable ocular traits. Molecular genetic analysis is available for many of these genes either as part of research or for clinical testing. The advent of gene array technologies has enabled screening of samples for known mutations in genes linked to various disorders. Exomic sequencing has proven to be particularly successful in research protocols in identifying the genetic causation of rare genetic traits by pooling patient resources and discovering new genes. Further, genetic analysis has led improvement in patient care and counselling, as exemplified by the continued advances in our treatment of retinoblastoma.

SUMMARY: Patients and families are commonly eager to participate in either research or clinical testing to improve their understanding of the cause and heritability of an ocular condition. Many patients hope that testing will then lead to appropriate treatments or cures. The success of gene therapy in the RPE65 form of Leber congenital amaurosis has provided a brilliant example of this hope; that a similar trial may become available to other patients and families burdened by genetic disease.