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]


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


  1. American Society of retina Specialists. Retina Health Series. Accessed April 18th, 2016.
  3. American Society of retina Specialists. Retina Health Series. Accessed April 18th, 2016.

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