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Carolee M. Cutler Peck, Sandeep Grover; Clinical Phenotype in a Family with X-linked Juvenile Retinoschisis and a Novel XLRS1 Mutation. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2378.
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To describe the phenotype associated with a novel mutation (Pro68Arg) in the XLRS1 gene in a family with X-linked juvenile retinoschisis .
Two family members - a boy, age 11 years and his uncle, age 44 years, with X-linked juvenile retinoschisis were evaluated. Detailed ophthalmic examination, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and Goldmann visual fields were performed. DNA analysis was done for genetic testing on both members of the family.
The best-corrected visual acuity in both members ranged from 20/100 to 20/200 with decreased color vision and restricted visual fields. The uncle showed atrophic macular lesion in the right eye with foveal thinning and residual cystic changes on OCT while the left eye showed bullous schisis in the inner and outer retinal layers. Schisis of the nerve fiber layer was seen on OCT in the parafoveal area. The boy showed laminar schisis in both inner and outer retinal layers with disruption of architecture in the subfoveal photoreceptors and adjoining areas. Both of them showed inferior schisis or atrophy with corresponding visual field changes. Genetic testing showed a hemizygous C to G change at nucleotide 203 in exon 4 causing a Pro68Arg mutation in the XLRS1 gene.
This family with X-linked retinoschisis describes the clinical phenotype associated with a novel mutation in XLRS1 gene. The SD-OCT depicts the pathology of this disease not only in the nerve fiber layer but involving all the retinal layers. This provides more insight into the pathogenesis of the condition.
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