Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Retinitis other diagnostic studies
Introduction
Overview
Overview
Other diagnostic studies include DNA testing, intraocular fluid analysis, blood tests, and cerebrospinal fluid testing.[1]
Other Diagnostic Studies
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
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.
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]