ABSTRACT
Background: Age-related macular degeneration (AMD) is a multifactorial disease and one of the main causes of blindness in people over 50 years old. The etiology and pathophysiology of AMD are not well understood. The aim of this study was to investigate whether the rs1143627 variant allele of IL1B, which encodes Interleukin (IL)-1ß, a key cytokine, mediates immune and inflammatory responses.Methods: A case-control study was conducted with 397 AMD patients and 402 controls in Brazil. IL1B genotyping was carried out with TaqMan® genotyping assay. Differences in IL1B allele frequencies and genotypes were evaluated between patients and controls and between wet and dry subgroups of AMD. Relationships between allele presence/genotype and disease risk are reported as odds ratios (ORs) with 95% confidence intervals (CIs).Results: Genotype proportions for the rs1143627 variant allele of IL1B were similar between AMD patients and controls (p = .21), with 84.38% of AMD patients and 79.60% of the controls carrying the variant allele. We observed a trend toward the variant allele being associated with AMD risk (OR = 1.38, 95% CI 0.95-2.03, p = .08), as well as a trend toward the variant allele being associated with increased risk for wet AMD in particular (OR = 1.23, 95% CI 0.96-1.56, p = .08).Conclusions: The rs1443627 variant was not associated with AMD risk in this Brazilian population sample. Larger studies are warranted to determine whether the trends observed in this study reflect a relationship between this variant and risk of AMD, especially wet AMD.
Subject(s)
Interleukin-1beta/genetics , Macular Degeneration/genetics , Polymorphism, Single Nucleotide/genetics , Aged , Aged, 80 and over , Brazil/epidemiology , Case-Control Studies , Female , Gene Frequency , Genotyping Techniques , Humans , Macular Degeneration/epidemiology , Male , Middle Aged , Odds Ratio , Ophthalmoscopy , Risk Factors , Slit Lamp Microscopy , Tomography, Optical Coherence , Visual Acuity/physiologyABSTRACT
Cutis marmorata telangiectasia congenita is a rare cutaneous vascular disorder that may be associated with different systemic manifestations like body asymmetry, cutaneous, ophthalmologic, vascular, and neurological manifestations. We describe ophthalmologic alterations found in three patients with cutis marmorata telangiectatica congenita highlighting the rare retinal manifestations.
Subject(s)
Skin Diseases, Vascular , Telangiectasis/congenital , Humans , Livedo Reticularis , RetinaABSTRACT
ABSTRACT Cutis marmorata telangiectasia congenita is a rare cutaneous vascular disorder that may be associated with different systemic manifestations like body asymmetry, cutaneous, ophthalmologic, vascular, and neurological manifestations. We describe ophthalmologic alterations found in three patients with cutis marmorata telangiectatica congenita highlighting the rare retinal manifestations.
RESUMO A Cutis marmorata telangiectasica congênita é uma desordem vascular cutânea rara que pode estar associada a diferentes manifestações sistêmicas, como assimetria corporal, alterações cutâneas, oftalmológicas, vasculares e neurológicas. Descrevemos alterações oftalmológicas encontradas em três pacientes com cutis marmorata telangiectasia congênita, destacando as raras manifestações retinianas.
