Electrophysiology and optical coherence tomography in acquired and hereditary retinal disorders

University dissertation from Department of Ophthalmology, Faculty of Medicine, Lund University

Abstract: In this thesis, retinal function in general, as well as central retinal function and structure are described in selected forms of acquired and hereditary retinal disorders, in order to improve our understanding of underlying pathogenic mechanisms. This comparison has been made possible during the last years, through the relatively recent development of multifocal ERG (mfERG) and optical coherence tomography (OCT) for the analysis of central retinal function and structure, respectively. The following disorders were investigated: Patients with different mutation in the RDS gene: Phenotypic expression in terms of central retinal structure and function, by OCT and mfERG varied widely, even with the same heterozygous mutation in RDS. Structural alterations were found with OCT in the outer retina choroid complex (ORCC) in a patient with adult onset vitelliform macular degeneration, but function was relatively preserved by mfERG. Patients from a family with autosomal dominant retinitis pigmentosa and a mutation in IMPDH1: Disease expression was homogenous; central retinal function seemed to decrease with age as judged by mfERG, whereas retinal edema seen with OCT, was more pronounced in young patients. Patients with Best macular dystrophy (BMD) and mutation in VMD2: If any functional impairment, the typical appearance in BMD associated with mutations in VMD2, is that of central retinal dysfunction by mfERG and variable structural alterations with OCT. However even in the presence of structural alterations including a lesion in the ORCC, central retinal function may be preserved. Signs of widespread retinopthy were identified in certain genotypes, most noticeably in patients with specific compound heterozygous mutations in VMD2. Patients with recent onset rhegmatogenous retinal detachment (RRD) and solar retinopathy: Central retinal function improves after successful surgery in RRD, or after expectancy in solar retinopahy. Structural alterations in the fovea may be seen, even after successful surgery for RRD. The significance of these in the possible contribution to functional impairment remains to be established. Factors that might influence the outcome include the duration and extent of detachment, and the type of surgery applied.

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