Dataset Information

Long-term 12 year follow-up of X-linked congenital retinoschisis.

ABSTRACT: PURPOSE:To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood. METHODS: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 testing of best corrected visual acuity (BCVA), visual field (VF) and assessment of full-field electroretinography (ERG) during their first visit. During the follow-up, the same clinical protocols were repeated. In addition, macular structure and function was examined with multifocal electroretinography (mfERG) and optical coherence tomography (OCT). The patients were 18-25 years of age (mean age 21 years) at the follow-up examination. All exons and exon-intron boundaries of RS1-gene were sequenced for gene mutations in 9 out of the 10 patients. RESULTS: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. Multifocal electroretinography and OCT demonstrated a wide heterogeneity of macular changes in retinal structure and function at the time of follow-up visit. Three different mutations were detected in these nine patients, including a known nonsense mutation in exon 3, a novel insertion in exon 5 and an intronic mutation at 5' splice site of intron 3. CONCLUSIONS: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. MfERG and OCT demonstrated a wide variety of macular changes including structure and dysfunction. 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.

SUBMITTER: Kjellstrom S

PROVIDER: S-EPMC2997439 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature

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Long-term 12 year follow-up of X-linked congenital retinoschisis.

Kjellström Sten S Vijayasarathy Camasamudram C Ponjavic Vesna V Sieving Paul A PA Andréasson Sten S

Ophthalmic genetics 20100901 3

<h4>Purpose</h4>To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood.<h4>Methods</h4>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 testing of best corrected visual acuity (BCVA), visual field (VF) and assessment of full-field electroretinograph ...[more]

PMID: 20569020

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Project description:ObjectiveThe purpose of this study was to examine long-term outcomes of nonpharmacological intervention in children and adolescents with stroke utilizing repetitive transcranial magnetic stimulation (rTMS) to the primary motor cortex combined with constraint- induced movement therapy (CIMT) to improve motor function in the paretic hand. Outcome measures included function, satisfaction, and medical status review.MethodsFourteen of the original 19 participants (74%) from our rTMS/CIMT clinical trial (real rTMS+CIMT, n = 8; and sham rTMS+CIMT, n = 6) were evaluated. The median age of the subjects at follow up was 13.4 years (range 11-20 years old, 50% male). Median time to follow-up was 47.5 months (range 21-57 months). Descriptive statistics were conducted using frequencies and counts. Motor performance was measured using the Assisting Hand Assessment (AHA) and Canadian Occupational Performance Measure (COPM). Satisfaction was reported with use of the COPM and TMS Tolerance Survey. Open-ended interview was conducted for feedback on study experience and subjective perspectives of current functional status.ResultsOverall, seven of eight individuals who received real rTMS and five of six individuals who received sham rTMS maintained or improved AHA scores. Six of 14 participants reported new onset of co-occurring conditions (four individuals in the real rTMS group, two individuals in the sham rTMS group). The majority (86%) of participants reported study satisfaction. Review of medical status revealed co-occurring conditions including: Epilepsy, obsessive-compulsive disorder, anxiety, depression, unspecified mood disorder, and undiagnosed inattentiveness.ConclusionsLong-term outcomes of rTMS/CIMT in pediatric stroke were investigated. Variability in performance and unattributed symptoms were noted. Considering the prevalence of co-occurring conditions in children and adolescents with stroke, new-onset symptoms were not attributed to original intervention. With the small sample size, the impact of rTMS on long-term outcomes cannot be fully determined from these data. Characterizing long-term outcomes through performance, participant perspectives, and medical status allows comprehensive assessment of rTMS/CIMT intervention efficacy.

Dataset Information

Long-term 12 year follow-up of X-linked congenital retinoschisis.

Publications

Long-term 12 year follow-up of X-linked congenital retinoschisis.

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