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S. Kjellstrom, V. Camasamudram, V. Ponjavic, P. A. Sieving, S. Andreasson; Long Term Follow Up of Patients With X-Linked Retinoschisis and Further Analysis of Changes in the Macular Region. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3556.
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To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood.
Ten patients clinically diagnosed with XLRS were investigated at 6-15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patients underwent regular ophthalmic examination as well as visual acuity (VA) and visual field (VF) testing, full-field ERG during their first visit. During the follow up the same clinical protocols were repeated. In addition the changes in macular structure and function was examined by mfERG and OCT. The patients were between 18 -25 years of age (mean age 22 years) at the follow up examination.
Best corrected VA and VF were stable during this follow up period. No significant progression in cone or rod function could be measured by full field ERG. MfERG and OCT demonstrated a wide heterogeneity of macular changes in retinal structure and function at the time of follow up visit. DNA sequencing of all exons and intron-exon boundaries of RS1 gene identified different point mutations
Clinical follow up (mean 12 years) of ten young XLRS patients (mean age of 9 years) with a typical congenital retinoschisis phenotype revealed no significant decline in retinal function during this time period. The XLRS disease was relatively stable during this period of observation and would afford opportunity for therapy studies, to judge benefit against baseline and against the fellow eye.
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