Blind and Visually Impaired Community
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RP Hereditary question (self.Blind)
submitted by Complete-Weakness994
My father was just diagnosed at age 57, he is the first in his family. Without having a clear genetic picture, is anyone familiar with how this typically passes down? Recessive or dominant pattern?
galaxy_rotation 13 points 1y ago
RP is actually an umbrella term for the impact of 150-200 different genetic issues, so it could be dominant, recessive, or x-linked depending on the individual case. I'd recommend seeking out a genetic counselor in your area who can connect you with RP specific genetic testing and help answer your questions.
Iamheno 4 points 1y ago
Retinitis pigmentosa is caused by either a new or inherited mutation in the genes responsible for the development of the retina, retinal pigment epithelium, and mitochondria. In retinitis pigmentosa, the same mutation can cause what appear to be two different diseases, even within members of the same family. Similarly, different mutations can produce identical forms of the disease. However, can be great variability in the course of vision deterioration even among people within the same family.
This iis typically a recessive pattern disorder. Sadly, it can be a spontaneous mutation as well.
This iis typically a recessive pattern disorder. Sadly, it can be a spontaneous mutation as well.
JackEsq 3 points 1y ago
Free genetic testing is available at My Retina Tracker. This will hopefully identify the gene causing the RP and with a genetic counselor tell you what the inheritance pattern is.
SugarPie89 1 points 1y ago
If your father is the first, he might have a random mutation that was not inherited.
Complete-Weakness994 [OP] 1 points 1y ago
Yes he is the first that we know of. Are these random mutations inherited from here? Or is that just dependent on the gene?
SugarPie89 1 points 1y ago
From what I can tell random mutaions dont get passed down. And even if he did inherit it, it sounds like its not running strongly in your family anyway since he is he only one you know of who has it. There are cases where all the children have it. Im the only one of 6 that has it, but bad eyesigh seems to run in the family in general. Only one of my siblings doesnt need glasses so far. And my mom has always been farsighted since I was younger.
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