Retinitis other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Ilan Dock, B.S.; Jyostna Chouturi, M.B.B.S [2]
Overview
Other diagnostic studies include DNA testing, intraocular fluid analysis, blood tests, and cerebrospinal fluid testing.[1]
Other Diagnostic Studies
Other Diagnostic Studies for Retinitis Pigmentosa
DNA Testing
- The patient's family history is also considered when determining a diagnosis due to the genetic mode of inheritance of Retinitis Pigmentosa.
- At least 35 different genes or loci are known to cause "nonsyndromic RP" (RP that is not the result of another disease or part of a wider syndrome).
- Indications of the RP mutation type can be determine through DNA testing, which is available on a clinical basis for:
- RLBP1 (autosomal recessive, Bothnia type RP)
- RP1 (autosomal dominant, RP1)
- RHO (autosomal dominant, RP4)
- RDS (autosomal dominant, RP7)
- PRPF8 (autosomal dominant, RP13)
- PRPF3 (autosomal dominant, RP18)
- CRB1 (autosomal recessive, RP12)
- ABCA4 (autosomal recessive, RP19)
- RPE65 (autosomal recessive, RP20)[2]
Other Diagnostic Studies for Infectious Agents
- Intraocular fluid analysis may be used for a specific diagnosis.
- Blood tests and cerebrospinal fluid (CSF) testing may also be used for further analysis.[3]
References
- ↑ American Society of retina Specialists. Retina Health Series. https://www.asrs.org/patients/retinal-diseases/16/infectious-retinitis. Accessed April 18th, 2016.
- ↑ http://www.columbiaeye.org/content/retinitis-pigmentosa
- ↑ American Society of retina Specialists. Retina Health Series. https://www.asrs.org/patients/retinal-diseases/16/infectious-retinitis. Accessed April 18th, 2016.