What are laboratory tests are needed to diagnose ophthalmic genetic disorders?
It depends on the genetic disorder to which you are referring. In Tay Sachs disease you may only need an ophthalmoscope to see a cherry red macula. Wilson’s disease isn’t primarily an ophthalmic disorder, but you may see a Kaiser-Fleishner ring with ophthalmoscope or slit lamp. So, lab tests are not always necessary. Other diseases may be diagnosed by FISH (fluorescent in-situ hybridization), or RFLP (restriction fragment length polymorphisms). For a more complete source, see Graham Black’s Genetics for Ophthalmologists.
