However, the risk rate will decrease with age and the older the sibling, the lower the risk that he or she will develop RP. For example, when the age of the patient's sibling is 0 years, the recurrence risk is 25%, the same as the segregation rate. On the contrary, the probability that a healthy member of the family will develop RP will decrease with age. Retinitis pigmentosa is not a lethal disease, so the rate of family members displaying the RP phenotype will increase with age. So it is possible that the family members display a normal phenotype and develop the RP phenotype at a later stage. In RP, the genotype is fixed at conception however, the onset of disease may not manifest until several decades later. However, it does not hold true for the RP phenotype because RP is a late-onset disease. This calculation is completely true for the probability of a disease genotype. 2, 3 For example, under the assumption of autosomal recessive inheritance, the probability of a disease genotype in a sibling of the proband is calculated as 25%. At an RP clinic, this risk rate is usually calculated as a segregation rate of the disease genotype. One of the issues that patients are interested in is recurrence risk in their family, which is the probability of the development of a specific disease in other family members. 1īecause no efficient therapies have been developed, genetic counseling is quite important at an RP clinic. ![]() Usually, patients have no prominent symptoms in childhood however, because of progressive photoreceptor cell degeneration, their vision is gradually lost during adolescence and adulthood. Retinitis pigmentosa (RP) is a set of inherited retinal diseases that lead to blindness. Shared Decision Making and Communication.Scientific Discovery and the Future of Medicine.Health Care Economics, Insurance, Payment.Clinical Implications of Basic Neuroscience. ![]() Challenges in Clinical Electrocardiography.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |