| 1. |
- Landsend, Erlend C. S., et al.
(författare)
-
Characteristics and Utility of Fundus Autofluorescence in Congenital Aniridia Using Scanning Laser Ophthalmoscopy
- 2019
-
Ingår i: Investigative Ophthalmology and Visual Science. - : ASSOC RESEARCH VISION OPHTHALMOLOGY INC. - 0146-0404 .- 1552-5783. ; 60:13, s. 4120-4128
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE. To investigate fundus autofluorescence (FAF) and other fundus manifestations in congenital aniridia. METHODS. Fourteen patients with congenital aniridia and 14 age- and sex-matched healthy controls were examined. FAF images were obtained with an ultra-widefield scanning laser ophthalmoscope. FAF intensity was quantified in the macular fovea and in a macular ring surrounding fovea and related to an internal reference within each image. All aniridia patients underwent an ophthalmologic examination, including optical coherence tomography and slitlamp biomicroscopy. RESULTS. Mean age was 28.4 +/- 15.0 years in both the aniridia and control groups. Fovea could be defined by subjective assessment of FAF images in three aniridia patients (21.4%) and in all controls (P = 0.001). Mean ratio between FAF intensity in the macular ring and fovea was 1.01 +/- 0.15 in aniridia versus 1.18 +/- 0.09 in controls (P = 0.034). In aniridia, presence of foveal hypoplasia evaluated by biomicroscopy correlated with lack of foveal appearance by subjective analyses of FAF images (P = 0.031) and observation of nystagmus (P = 0.009). CONCLUSIONS. Aniridia patients present a lower ratio between FAF intensity in the peripheral and central macula than do healthy individuals. Both subjective and objective analyses of FAF images are useful tools in evaluation of foveal hypoplasia in aniridia.
|
|
| 2. |
- Landsend, Erlend C. S., et al.
(författare)
-
The Level of Inflammatory Tear Cytokines is Elevated in Congenital Aniridia and Associated with Meibomian Gland Dysfunction
- 2018
-
Ingår i: Investigative Ophthalmology and Visual Science. - : ASSOC RESEARCH VISION OPHTHALMOLOGY INC. - 0146-0404 .- 1552-5783. ; 59:5, s. 2197-2204
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE. To investigate the tear cytokine profile in congenital aniridia, and correlate cytokine levels with ophthalmologic findings. METHODS. We examined 35 patients with aniridia and 21 healthy controls. Tear fluid was collected with Schirmer I test and capillary tubes from each eye, and the concentration of 27 inflammatory cytokines determined using multiplex bead assay. Eyes of all participants were examined with tests for dry eye disease, including evaluation of meibomian glands (meibography). Differences in cytokine levels between the two groups were analyzed, and correlations between cytokine concentrations and ophthalmologic findings in the aniridia group investigated. RESULTS. The concentrations of six tear cytokines were significantly higher in aniridia patients than controls in both eyes, and included interleukin 1 beta (IL-1 beta), IL-9, IL-17A; eotaxin; basic fibroblast growth factor (bFGF/FGF2); and macrophage inflammatory protein 1 alpha (MIP-1 alpha/ CCL3). The ratio between the anti-inflammatory IL-1RA and the proinflammatory IL-1 beta was significantly lower in patients than controls in both eyes (P = 0.005 right eye and P = 0.001 left eye). Increasing concentration of IL-1 beta, IL-9, IL-17A, FGF2, and MIP-1 alpha correlated with parameters for meibomian gland dysfunction (MGD) in the aniridia group, including increasing atrophy of meibomian glands, and shorter break-up time of the tear film. CONCLUSIONS. A number of pro-inflammatory cytokines are significantly elevated in tear fluid from aniridia patients, and correlate with parameters for MGD in aniridia. Increased inflammation of the ocular surface may be a factor in the development of MGD in aniridia patients, and explain the high prevalence of MGD and dry eye disease in these patients.
|
|
| 3. |
- Cardell, M., et al.
(författare)
-
High resolution immunogold analysis reveals distinct subcellular compartmentation of protein kinase Cγ and δ in rat Purkinje cells
- 1997
-
Ingår i: Neuroscience. - 0306-4522. ; 82:3, s. 709-725
-
Tidskriftsartikel (refereegranskat)abstract
- High resolution immunogold cytochemistry was used to investigate the subcellular distribution of protein kinase Cγ and δ in Purkinje cells of the rat cerebellum. Postembedding incubation with an antibody raised to a peptide sequence near the C-terminus of protein kinase Cγ resulted in strong labelling along the dendrosomatic plasma membrane. A quantitative analysis indicated that this labelling reflected the existence of two pools of protein kinase Cγ; one membrane associated pool and one cytoplasmic pool located within 50 nm of the plasma membrane. The labelling along the plasma membrane showed a pronounced and abrupt increase when moving from the cell body into the axon initial segment. Gold particles signalling protein kinase Cγ were also enriched in putative Purkinje axon terminals in the dentate nucleus. The only organelle showing a consistent immunolabelling for protein kinase Cγ was the Golgi apparatus where the gold particles were restricted to the trans face. Protein kinase Cγ immunoreactivity also occurred in the Purkinje cell spines, with an enrichment in or near the postsynaptic density. Antibodies to protein kinase Cδ produced a very different labelling pattern in the Purkinje cells. Most of the gold particles were associated with rough endoplasmic reticulum, particularly with those cisternae that were located close to the nucleus or in the nuclear indentations. No significant protein kinase C5 immunolabelling was detected at the plasma membrane or in Purkinje cell spines. The present data point to a highly specific compartmentation of the two major protein kinase C isozyme in Purkinje cells and suggest that these isozymes act on different substrates and hence have different regulatory functions within these neurons.
|
|
| 4. |
- Landsend, Erlend S., et al.
(författare)
-
The genetics of congenital aniridia-a guide for the ophthalmologist
- 2018
-
Ingår i: Survey of ophthalmology. - : ELSEVIER SCIENCE INC. - 0039-6257 .- 1879-3304. ; 63:1, s. 105-113
-
Forskningsöversikt (refereegranskat)abstract
- Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and macula. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness. Many complications in aniridia patients are difficult to treat and present a challenge for the ophthalmologist. Increasingly, associated nonocular features of the disease are also being recognized. Over the past decades, major steps have been made in the understanding of the genetic basis of aniridia. Moreover, recent studies have prepared the ground for future treatment options based on specific mutations. Therefore, specific knowledge about genetics in aniridia has become more important than ever. We provide an overview of the field of aniridia genetics and its clinical implications. (C) 2017 Elsevier Inc. All rights reserved.
|
|
