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4 Possible Causes for Mutation in the RP1-Like Protein 1 Gene, Severely Reduced Central Responses on Multifocal ERG

  • Occult Macular Dystrophy

    The multifocal ERGs 4 demonstrated a loss of local responses in the central retina (fig 2C).[bjo.bmj.com] To determine whether a mutation in the RP1-like protein 1 (RP1L1) gene is present in a Japanese patient with sporadic occult macular dystrophy (OMD) and to examine the characteristics[ncbi.nlm.nih.gov] The RP1-like protein 1 ( RP1L1 ) gene (OMIM 608581) is the gene most commonly associated with OMD ( Davidson et al., 2013 ), and many mutations in RP1L1 have been reported[journal.frontiersin.org]

  • Goldmann-Favre Syndrome

    […] plateau Multifocal ERG: preserved central responses but reduced with increasing eccentricity EOG light rise undetectable 5 OD: 6.5/6.5/5 OS: 6.5/6/4.5 Severely delayed and[iovs.arvojournals.org] reduced 40/36 Present OFF response plateau Multifocal ERG: preserved central responses but reduced with increasing eccentricity 6 OD: 56/ 100/8.5 Not detectable 10/10 NP[iovs.arvojournals.org] […] response to more peripheral hexagons 3 OD: 8/8.5/13.5 OS: 12.5/9.5/14 Delayed and reduced 6/6 NP NP — 4 OD: 6/6/7 OS: 7.5/6.5/6.5 Normal amplitude, delayed 50/46 Present OFF response[iovs.arvojournals.org]

    Missing: Mutation in the RP1-Like Protein 1 Gene
  • Macular Dystrophy with Central Cone Involvement

    ERG responses to full-field testing are normal but multifocal studies reveal severely reduced central responses.[disorders.eyes.arizona.edu]

    Missing: Mutation in the RP1-Like Protein 1 Gene
  • Peripheral Cone Dystrophy

    Multifocal electroretinography (mfERG) showed well-preserved local responses in the central retina and severely reduced responses in the perifoveal retina (Fig. 1) corresponding[journals.lww.com] The results of mfERGs showed slightly detectable responses in the central area of left eye; however, the amplitudes of the other area were severely reduced in the patients[link.springer.com] Full-field ERG disclosed normal scotopic responses in both eyes but diminished photopic amplitudes (Fig. 2).[journals.lww.com]

    Missing: Mutation in the RP1-Like Protein 1 Gene

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