The hereditary dystrophies of the posterior pole of the eye

Diminished vision as a result of macular degeneration or changes of the posterior pole of the eye constitutes an important ophthalmological problem. Kornzweig (1957) studied more than rooo eyes and found diminished vision as a result of an affection of the posterior pole in 24.1% of patients under So and 3S.6% of patients over So. Ouly cataract was found to be a more frequent cause of diminished vision. However, whereas the therapeutic possibilities are ample in the case of cataract, they are usually very limited in the many macular affections. Yet a too defeatist attitude towards affections of the posterior pole is undesirable. A better understanding and improved knowledge of macular anomalies and degenerations may well lead to a more effective approach. Precisely in familial dystrophies of the posterior pole, more perceptive interpretation of the clinical features and a knowledge of the mode of transmission can make a meaningful contribution to prophyla..'<is by responsible genetic counselling. In thls conte...'t it must be borne in mind that several dystrophies of the posterior pole cause so little loss of function that prophyla.'<is need not at all be considered. Since the clinical course and prognosis of the various macular degenerations are dependent on the type of affection, improved differentiation is of great importance also

Peace journalism–critical discourse case study: media and the plan for Swedish and Norwegian defence cooperation

PURPOSE: To describe the occurrence of atypical, bilateral detachment of the macular neuroepithelium and Klinefelter syndrome in a young patient. METHODS: Case report. RESULTS: A 20-year-old male of Chinese origin with karyotype 47,XXY presented with bilateral central neurosensory retinal detachment. There was spontaneous improvement. CONCLUSIONS: An atypical form of detachment of the macular neuroepithelium was seen in a young patient with Klinefelter syndrome. The pathophysiological mechanism is not clear. The possibility of a hormonal imbalance is discussed. A differential diagnostic consideration is central serous chorioretinopathy and a mild form of Vogt-Koyanagi-Harada syndrome. This case is of interest because of the rarity of association between Klinefelter syndrome and chorioretinal abnormalities

Soft inversions

PURPOSE: Butterfly-shaped macular dystrophy (BSMD) has so far only been associated with mutations in the peripherin/RDS gene. The initial aim of our study was to investigate the peripherin/RDS gene as the causative gene in a family with BSMD. Subsequently the putative involvement of the ROM-1 gene, 4 genes expressed in cone photoreceptors, all known non-syndromic macular, retinal pigment epithelium and choroidal dystrophy loci, all known Leber congenital amaurosis loci and all known non-syndromic congenital and stationary retinal disease loci was examined. METHODS: Thirteen members from the original family with autosomal dominant BSMD were examined. The protein coding exons of the peripherin/RDS gene were screened for mutations by sequence analysis. Linkage analysis was performed using markers flanking the peripherin/RDS gene to rule out the presence of a heterozygous deletion. Likewise, involvement of the ROM-1 gene, four cone genes, 41 non-syndromic retinal disease loci and one syndromic retinal disease locus was investigated. RESULTS: Sequence analysis of the peripherin/RDS gene revealed no mutations. In addition, the BSMD phenotype could not be genetically linked to the peripherin/RDS gene, the ROM-1 gene and the four cone genes nor to any of the 42 retinal disease loci. CONCLUSIONS: This study reveals genetic heterogeneity for BSMD by the identification of a BSMD family, which is not associated with a mutation in the peripherin/RDS gene nor with any other known non-syndromic retinal disease gene

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Full-thickness macular holes treated with vitrectomy and tissue glue

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Retinal arterial occlusion in young adults

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The development of central areolar choroidal dystrophy

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Butterfly-shaped pigment dystrophy of the fovea associated with subretinal neovascularization

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