Titel | An introduction to the ocular genetics consultation |
Abstract Nr. | 2029 |
Doel | To describe the typical steps required in an ophthalmic genetics consultation. |
Methodes | Systematic review illustrated by case presentations. |
Resultaten | The steps taken in an ophthalmic genetics outpatient visit include taking a very careful history with attention to detail about the exact complaints of the patient, evolution of disease, family history and pedigree analysis, thorough clinical examination including photography, phlebotomy for molecular genetic analysis and careful counselling, both about potential evolution of disease as well as recurrence risks and potential prenatal or pre-implantation genetic diagnosis. Such consultations are classically of long duration, and may require splitting into two or more separate patient visits. |
Conclusie | A typical ophthalmic genetics consultation is complex, labour intensive and often emotionally charged. Considerable skill and patience is required to translate often complex molecular causes into lay people's terminology and to answer all the patient's questions. |
Naam | LEROY |
Initialen | BP |
Instituut | Dept of Ophthalmology & Ctr Med Genetics, Ghent Univ Hosp & Div of Ophthalmology, CHOP |
Stad | Ghent & Philadelphia |