zeaxanthin and Sjogren-Larsson-Syndrome

Topics: Angiogenesis Inhibitors; Bevacizumab; Choroidal Neovascularization; Female; Fibrosis; Fluorescein Angiography; Humans; Intravitreal Injections; Lutein; Macula Lutea; Sjogren-Larsson Syndrome; Tomography, Optical Coherence; Vascular Endothelial Growth Factor A; Young Adult; Zeaxanthins

Macular pigment (MP) deficit has been described in macular teleangiectasia type 2 (MTA; acquired MP loss) and in Sjögren-Larsson syndrome (SLS; hereditary MP deficiency). Central blue light-induced fundus autofluorescence (FAF) and blue light fundus reflectance (BLR) are thought to reflect MP distribution. This study was performed to describe the macular morphology in SLS and MTA by multimodal imaging to further investigate the causes of FAF and BLR changes in these disorders.. This was a single-centre, cross-sectional, retrospective, observational study on SLS and MTA patients treated at our institution. In a multimodal retinal imaging dataset, patterns of BLR and FAF changes were compared with the optical coherence tomography (OCT) and clinical appearance of the patients' retinas.. Multimodal image sets of seven eyes of four patients with SLS and of 25 eyes of 15 patients with MTA were included in this study. In MTA, areas of focal FAF increase were mainly associated with retinal pseudocysts and photoreceptor loss and were co-located with regions of increased BLR. In SLS, areas of focally decreased FAF correlated with the typical intraretinal glistening dots. Frequently, a spot of focally increased FAF was visible at the fovea of SLS patients, often independent of the presence of pseudocysts or photoreceptor loss on OCT.. In MTA and SLS different patterns of FAF alterations could be observed. The areas of increased BLR, which are thought to correlate with MP loss, appeared to have only restricted correlation with FAF appearance.

Topics: Adolescent; Adult; Aged; Cross-Sectional Studies; Fluorescein Angiography; Humans; Lutein; Macula Lutea; Middle Aged; Multimodal Imaging; Ophthalmoscopy; Retinal Pigments; Retinal Telangiectasis; Retrospective Studies; Sjogren-Larsson Syndrome; Tomography, Optical Coherence; Xanthophylls; Young Adult; Zeaxanthins

Sjögren-Larsson syndrome (SLS), an autosomal recessive hereditary disorder with congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation, reveals a characteristic macular dystrophy with intraretinal crystals and foveal pseudocysts. Ophthalmic symptoms in SLS are reduced visual acuity and photophobia. This article reports the deficiency of macular pigment as a novel finding in this peculiar, congenital maculopathy.. Cross-sectional, observational case study.. Patients with clinically and genetically proven SLS.. Besides general ophthalmologic examination, 2 different methods were used, fundus autofluorescence (FAF) and fundus reflectometry with the macular pigment reflectometer (MPR), for measuring macular pigment (MP).. Distribution profiles and quantity of MP in eyes of SLS patients.. Twenty-eight eyes of 14 patients were included. The technique to measure MP depended on the ability of the mentally handicapped patients to cooperate. Fundus autofluorescence images providing qualitative estimates were obtained from 9 eyes of 5 patients, and MPR measures providing quantitative estimates were obtained from 19 eyes of 10 patients. Fundus autofluorescence images of SLS patients lacked the typical attenuation of macular FAF signal expected in normal eyes. Mean foveal MP levels measured by MPR showed significantly lower values in SLS patients (0.10+/-0.07) than in healthy individuals (0.69+/-0.17; P<0.001, Student t test).. The group of SLS patients studied here had significantly reduced levels of foveal MP. The crystalline macular dystrophy in SLS seems to be the first known disease with a genetically caused deficiency of MP.

Topics: Adolescent; Adult; Child; Child, Preschool; Cross-Sectional Studies; Female; Fluorescein Angiography; Humans; Lutein; Macula Lutea; Macular Degeneration; Male; Ophthalmoscopy; Sjogren-Larsson Syndrome; Tomography, Optical Coherence; Visual Acuity; Xanthophylls; Young Adult; Zeaxanthins