EGF-containing fibulin extracellular matrix protein 1 (EFEMP1), or fibulin-3, is an extracellular matrix glycoprotein encoded by the EFEMP1 gene. The role of EFEMP1 in the human eye is incompletely understood, but there are well-reported associations between mutations in the gene and a variety of ophthalmic diseases, such as myopia, juvenile open-angle glaucoma (JOAG), primary open-angle glaucoma (POAG) and familial drusen formation in Malattia Leventinese (ML)/Doyne honeycomb retinal dystrophy (DHRD). Variants which interact with EFEMP1 have also been identified in genome-wide association studies (GWAS) for age-related macular degeneration (AMD). Many of these conditions form a large component of ophthalmology case-load and have incompletely characterized pathogenesis. In this review, we will describe the role of EFEMP1 in ophthalmic disease. We discuss the role of EFEMP1 in Mendelian eye disease, its polygenic contributions to common ophthalmic conditions, and the potential to target EFEMP1 for therapeutic purposes.

To evaluate the safety and clinical efficacy of ranibizumab (Lucentis) in the treatment of choroidal neovascularization (CNV) caused by diseases other than age-related macular degeneration (AMD). 21 patients with mean age 61  17.2 years (min 16, max 85) with CNV due to causes other than AMD, in particular pathological myopia (n=11), angioid streaks (n=3), central serous chorioretinopathy (n=2), North Carolina macular dystrophy (n=1), dominant familial drusen (n=1) and idiopathic CNV (n=3). The patients were treated at the Ophthalmology Department of the University Hospital in Hradec Kralove with three monthly initial intravitreal injections of ranibizumab 0.5 mg with subsequent treatment regimen pro re nata (PRN). The best corrected visual acuity (BCVA) was evaluated on the ETDRS optotypes (Early Treatment Diabetic Retinopathy Study), central retinal thickness (CRT) was measured by optical coherent tomography (OCT) (Zeiss, Cirrus). These parameters were evaluated before start of the study and then at 1 (BCVA only), 4, 8, and 12 months during treatment. We also evaluated the possible occurrence of ocular and systemic side effects. Statistically significant improvement in the mean of BCVA score of 11.4 letters (p.

To report the clinical and genetic characteristics of 6 cases with late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. Clinical and genetic data were collected from 6 independent patients who complained of night blindness in their fifth to eighth decade of life. The ophthalmological examinations included ophthalmoscopy, fundus autofluorescence (FAF), and full-field electroretinography (ERG). Whole exome sequencing with target gene analysis was performed to determine the causative genes and variants. All of the patients first complained of night blindness at the ages of 40-71 years. Funduscopic examinations demonstrated white or atrophic flecks scattered in the posterior pole and peripheral retina bilaterally. FAF showed patchy hypo-autofluorescence spots in the posterior pole similar to that of the trickling type of age-related macular degeneration (AMD). The region of abnormal FAF rapidly expanded with age, and one eye developed a choroidal neovascularization. The full-field scotopic ERGs with 20 min of dark adaptation were severely reduced or extinguished in all cases. There was partial recovery of the ERGs after 180 min of dark adaptation. The cone ERGs were reduced in all cases. Whole exome sequencing revealed no pathogenic variants of 301 retinal disease-associated genes. The six cases had some common features with the flecked retina syndrome, familial drusen, and late-onset retinal degeneration although none had pathogenic variants causative for these disorders. These cases may represent a subset of severe trickling AMD or a new clinical entity of acquired pan-retinal visual cycle deficiency of unknown etiology.