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.
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.
Original language | English |
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Qualification | Doctor |
Awarding Institution |
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Supervisors/Advisors |
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Award date | 2006 Oct 28 |
Publisher | |
ISBN (Print) | 91-85559-17-2 |
Publication status | Published - 2006 |
Bibliographical note
Defence detailsDate: 2006-10-28
Time: 10:00
Place: Segerfalksalen, Biomedicinskt centrum, Sölvegatan, Universitetssjukhuset i Lund
External reviewer(s)
Name: Textorius, Ola
Title: Docent
Affiliation: Linköping University
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<div class="article_info">P Schatz, L Eksandh, M Abrahamson, V Ponjavic and S Andréasson. <span class="article_issue_date">2003</span>. <span class="article_title">Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in the peripherin/rds gene.</span> <span class="journal_series_title">Acta Ophthalmol Scand.</span>, <span class="journal_volume">vol 81</span> <span class="journal_pages">pp 500-7</span>.</div>
<div class="article_info">P Schatz, V Ponjavic, S Andréasson, TL McGee, TP Dryja and M Abrahamson. <span class="article_issue_date">2005</span>. <span class="article_title">Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.</span> <span class="journal_series_title">Ophthalmic Genet</span>, <span class="journal_volume">vol 26</span> <span class="journal_pages">pp 119-24</span>.</div>
<div class="article_info">P Schatz, J Klar, V Ponjavic, S Andréasson and N Dahl. <span class="article_issue_date">2006</span>. <span class="article_title">Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.</span> <span class="journal_series_title">Ophthalmic Genet</span>, <span class="journal_volume">vol 27</span> <span class="journal_pages">pp 51-6</span>.</div>
<div class="article_info">P Schatz, U Eriksson, V Ponjavic and S Andréasson. <span class="article_issue_date">2004</span>. <span class="article_title">Multifocal ERG and OCT In two Patients with solar retinopathy.</span> <span class="journal_series_title">Acta Ophthalmol Scand.</span>, <span class="journal_volume">vol 82</span> <span class="journal_pages">pp 476-80</span>.</div>
<div class="article_info">P Schatz, K Holm and S Andréasson. <span class="article_issue_date"></span>. <span class="article_title">Retinal function after scleral buckling for recent onset retinal detachment: Assessment with electroretinography and OCT.</span> <span class="journal_series_title">Retina</span>, (inpress)</div>
<div class="article_info">P Schatz. <span class="article_issue_date"></span>. <span class="article_title">Electrophysiological findings and OCT in different genotypes in Best vitelliform macular dystrophy.</span> (manuscript)</div>
Subject classification (UKÄ)
- Ophthalmology
Free keywords
- Retinal degeneration
- multifocal ERG
- Oftalmologi
- Ophtalmology
- OCT