Eye examination: An ophthalmologist (eye doctor) can diagnose retinitis pigmentosa (RP). Usually, the doctor uses a special instrument, called an ophthalmoscope, to view the inside of the eye, where the retina is located. If the patient is healthy, the doctor will see an area called the fundus that is orange to red in color. However, if the patient has RP, the fundus will have brown or black spots.
If RP is suspected, an ophthalmologist may confirm a diagnosis by performing an electroretinogram (ERG). This test measures the function of the retina. During the test, different-colored lights are flashed into the eyes as the patient looks at a large reflective globe. An electrode is placed on the eye, and a wire transmits a record of the eye's retinal activity. People with RP have reduced electrical activity in the retina, which indicates that the photoreceptors are not functioning properly.
Visual tests can also be performed to determine the severity of vision loss.
Genetic testing: Many different genetic mutations are known to cause retinitis pigmentosa. Currently, genetic testing is available for several genetic mutations, including RLBP1, RP1, RHO, RDS, PRPF8, PRPF3, CRB1, ABCA4, and RPE65.
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