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Recent advances in biochemical methods for newborn screening and genetic testing have provided unprecedented opportunities for identifying patients at the earliest possible time and defining the genetic, molecular bases for their diseases. However, counseling must be an important part in approaching the diagnosis and prognosis in these patients. This course covers via case examples the Mendelian ocular diseases and inheritance patterns and current guidelines meant to provide a starting point for the management of these complex conditions in the context of personalized health care. 1. Define the Mendelian ocular diseases and their inheritance patterns. 2. Analyze the functional characteristics in these ocular diseases. 3. Prepare genetic counseling considerations. 4. Cite 12 questions to ask every patient with suspected inherited eye disease vision loss. |
