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PRPH2-related retinopathy

MONDO:1040055

Any retinopathy caused by a variant or variants in the PRPH2 gene.

Also known as: PRPH2-related retinopathy

27 clinical trials for this condition and its sub-types, 1 tagged with PRPH2-related retinopathy itself.

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Where it sits in the disease tree

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Part of

↑ Inherited retinal dystrophy (513)

Sub-types of PRPH2-related retinopathy

  • Fundus albipunctatus 1 trial
    1 sub-type
    • Retinitis punctata albescens 1 trial
  • Leber congenital amaurosis 18 0 trials
  • Choroidal dystrophy, central areolar 2 0 trials
  • Patterned macular dystrophy 1 0 trials
  • Retinitis pigmentosa 7 0 trials
  • Retinitis pigmentosa 7, digenic 0 trials
  • Vitelliform macular dystrophy 3 0 trials
Including sub-types (27) Tagged with PRPH2-related retinopathy (1)
Not yet finished but already full! 1
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  • Custom drug targets rare blindness in One-Patient trial

    Disease control Ongoing

    This study tests a custom-made drug called an antisense oligonucleotide, designed specifically for one person with retinal dystrophy caused by a PRPH2 gene mutation. The drug aims to correct the genetic error and potentially slow vision loss. The trial involves only one participa…

    Phase 1/2 • Sponsor: n-Lorem Foundation • Aim: Disease control

    Last updated Jun 26, 2026 17:51 UTC

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