Genetic disease may not be curable, but in most cases the patient benefits considerably from appropriate medical management by the physician. Such care should include all of the following steps.
Unfortunately, because health care practitioners may not be as knowledgeable about genetic diagnoses as they are about other areas of medicine, many cases are not precisely diagnosed or, worse, are diagnosed incorrectly. A patient with deafness and pigmentary retinopathy may receive a diagnosis of rubella syndrome when the correct diagnosis is Usher syndrome. This latter syndrome, associated with RP, may not be recognized in patients with RP. In patients with RP and congenital polydactyly (surgically corrected in infancy), Bardet-Biedl syndrome may not be recognized. The correct diagnosis in such cases is important to ensure that the patient’s educational and lifetime support needs are truly met.
Excerpted from BCSC 2020-2021 series: Section 2 - Fundamentals and Principles of Ophthalmology. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.