Stappers, P.T.Y. (2012) Fenotypering van niet-syndromale USH2A mutaties bij patiënten met Retinitis Pigmentosa. thesis, Medicine.
Full text available on request.Abstract
Purpose: To make a genotype-phenotype correlation in RP-patiënts with non-syndromic USH2A mutations. Methods: Patiënts were selected from an existing RP-database of the Ophthalmogenetics department in the Eye Hospital Rotterdam. Mutational screening was performed by different techniques and verified with DNA sequencing analysis. Ophthalmic examination in our patiënts included best-corrected visual acuity, slit-lamp biomicroscopy, funduscopy, Goldmann kinetic perimetry, electroretinography, optical coherence tomography, and fundus autofluorescence. A descriptive analysis was given of our results which were compared with results from earlier research. Results were also compared between our patiënts and controls with Usher syndrome type 2A. Results: 16 patiënts from 15 different families were enrolled in this study. Two patiënts carried a homozygous missense mutation in the USH2A gene, whereas the other 14 patiënts were compound heterozygous. Twenty different USH2A mutations were identified of which mutation c.2276G>T (p.Cys759Phe) was most commonly found. Five mutations had not been previously described. Most patiënts showed typical RP characteristics in fundo. However, differences were reported in related and unrelated patiënts with non-syndromic USH2A mutations in age of onset, best corrected visual acuity, ocular complications, and severity of the disease. Conclusion: Based on the different identified phenotypes in our patiënts with non-syndromic USH2A mutations no new genotype-phenotype correlation could be made. This suggests that the USH2A phenotype is probably influenced by other still unknown factors (genetic and/or environmental). Further research is needed to compare larger number of RP-patiënts with more identical non-syndromic USH2A mutations.
| Item Type: | Thesis (Thesis) |
|---|---|
| Supervisor name: | Facultaire begeleider: and Koopmans drs. S.A., oogarts |
| Supervisor name: | Externe begeleider(s): and Born, dr. L. Ingeborgh van den oogarts en Visser and Disciplinegroep: Oogheelkunde, Het Oogziekenhuis Rotterdam ( |
| Faculty: | Medical Sciences |
| Date Deposited: | 25 Jun 2020 10:48 |
| Last Modified: | 25 Jun 2020 10:48 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/912 |
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