Abstract
Purpose :
High cholesterol levels in untreated familial hypercholesterolemia (FH) can significantly compromise retinal microvasculature. This type of dyslipidemia is commonly treated with combination drug therapy and lipoprotein apheresis (LA). We conducted a retrospective observational study by means of optical coherence tomography (OCT) and optical coherence tomography-angiography (OCTA) on patients affected by familial hypercholesterolemia (FH) treated by LA and healthy controls.
Methods :
A group of 20 patients (40 eyes; 8 males and 12 females; mean age ± SD: 50,05 ± 13,68) with FH were compared to a group of 20 matched healthy controls (CT group). Inclusion criteria: genetically-confirmed diagnosis of FH, treatment with combination drug therapy and LA for at least 2 years, spherical equivalent (SE) -3 to +3 diopters. Exclusion criteria: pre-existent retinal or choroidal damage (including macular edema) due to congenital or acquired pathologies, chronic eye diseases requiring topical therapy, eye surgery in the previous 6 months. Instrumentation: Goldmann tonometer, binocular indirect fundoscopy, OCT and OCTA. Main outcome measures: best corrected visual acuity (BVCA), intraocular pressure (IOP), central macular thickness (CMT), choroidal thickness (CHT), retinal nerve fiber layer in each quadrant (RNFL Sup. / Inf. / Tem. / Nas.) and global RNFL value (RNFL G), foveal avascular zone (FAZ) and vascular density (VD). Statistical tests: ANOVA and Fisher tests. Statistical significance reached if p < 0.05 (5%).
Results :
Differences between the two groups were significant (p < 0,02) for the following parameters: FAZ, RNFL Sup, RNFL Inf., RNFL G. FH subjects had smaller RNFL Sup (109.5 ± 18,02 µm FH group vs 128 ± 11,61 µm CT group) and RNFL Inf. (111.5 ± 20,62 µm FH group vs 130,5 ± 17,77 µm CT group). RNFL G was consequently smaller (93,5 ± 11,78 µm FH group vs 101 ± 9,62 µm CT group). FAZ area was larger in FH subjects (0,32 ± 0,09 mm2 FH group vs 0,21 ± 0,06 mm2 CT group).
Conclusions :
FH patients treated with LA and drug therapy demonstrate several retinal and choroidal parameters comparable to controls. FAZ is reduced, but both CMT and CHT are not. RNFL G is reduced but within normal limits. Therefore, current treatment for FH protects against coronary artery disease and preserves retinal anatomy.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.