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Evaluation of Capillary and Other Vessel Contribution to Macular Perfusion Density Measured with Optical Coherence Tomography Angiography
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Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with

Cemal Çavdarli1, Büsranur Çavdarli2, Pinar Topcu-Yilmaz1

  • 1Department of Ophthalmology, University of Health Sciences,Ankara Numune Training and Research Hospital , Ankara, Turkey.

Ophthalmic Genetics
|May 7, 2020
PubMed

Insights

Familial Mediterranean fever (FMF) patients with the M694V mutation show no significant differences in macular vessel density or foveal avascular zone parameters compared to healthy individuals. This suggests the M694V mutation does not impact retinal vasculature in FMF.

Area of Science:

  • Ophthalmology
  • Genetics
  • Rheumatology

Background:

  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder.
  • The M694V mutation in the MEFV gene is common in FMF and linked to amyloidosis.
  • Retinal vascular changes in FMF are not well-characterized.

Purpose of the Study:

  • To compare macular optical coherence tomography angiography (OCT-A) measurements between FMF patients with the M694V mutation and healthy controls.
  • To investigate potential impacts of the M694V mutation on retinal vasculature.

Main Methods:

  • Macular OCT-A was used to measure vessel densities (superficial and deep vascular plexuses, choriocapillaris), foveal avascular zone (FAZ) parameters, and non-flow areas.
  • Thirty-eight FMF patients with M694V mutations and 40 age- and sex-matched healthy controls were included.
  • Compound heterozygous pathogenic variants were excluded.

Main Results:

  • No statistically significant differences were found in any OCT-A parameters between the FMF and control groups.
  • Macular vessel densities, FAZ perimetry, foveal VD 300µ around the FAZ (FD-300), acirculatory index (AI), and non-flow area were comparable.
  • Age and gender distributions were similar between the groups.

Conclusions:

  • FMF patients with the M694V mutation do not exhibit significant differences in macular vascular density or FAZ parameters compared to healthy controls.
  • The M694V mutation may not directly cause detectable changes in retinal vasculature detectable by OCT-A.
  • Further research may explore other ocular manifestations or different genetic variants in FMF.
Keywords:
FMFheterozygoushomozygousm694voptical coherence tomography angiographyvessel density

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