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Multifocal electroretinogram findings in sickle cell maculopathy.

Laurence Beral1,2, Marc Romana2,3, Nathalie Lemonne4

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Multifocal electroretinogram (mfERG) reveals early macular dysfunction in sickle cell disease (SCD) patients, even without clinical signs. This study confirms reduced retinal function in both HbSS and HbSC genotypes compared to controls.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Imaging

Background:

  • Sickle cell disease (SCD) is a genetic blood disorder with potential ocular complications.
  • Maculopathy, a disease of the macula, can occur in SCD patients.
  • Early detection of macular dysfunction is crucial for managing SCD-related eye conditions.

Purpose of the Study:

  • To describe and compare multifocal electroretinogram (mfERG) findings in patients with sickle cell disease (SCD) without clinical signs of maculopathy.
  • To compare mfERG results between different SCD genotypes (HbSS and HbSC) and healthy controls (HbAA).

Main Methods:

  • Inclusion of 86 subjects: 54 SCD patients (32 HbSS, 22 HbSC) and 32 controls (HbAA).
  • Comprehensive ophthalmologic examination including fundoscopy, spectral domain ocular coherence tomography (SD-OCT), and mfERG.
  • Analysis of macular thickness via SD-OCT and electrophysiological responses (N1, P1 amplitudes and implicit times) via mfERG.

Main Results:

  • SD-OCT revealed statistically lower macular thickness in SCD eyes compared to controls.
  • mfERG showed significantly reduced N1 and P1 response amplitude densities in both HbSS and HbSC eyes compared to HbAA eyes across central and peripheral retinal areas.
  • Reduced implicit times for N1 responses were observed in SCD eyes, particularly in HbSS compared to HbSC.

Conclusions:

  • This study is the first to describe macular electrophysiological dysfunction in SCD patients using mfERG.
  • The findings indicate subclinical macular dysfunction in SCD patients, detectable by mfERG.
  • SCD-related maculopathy appears to be equally prevalent in both HbSS and HbSC genotypes.