RESUMO
BACKGROUND: We report on a 3 year-old boy who was first diagnosed with retinal detachment and macular hole and received surgical treatment. X-linked juvenile retinoschisis was determined by DNA analysis. CASE: Past or family history was not recognized. There was left macular hole but no typical spoke-like foveal retinoschisis was observed in either eye. We could not diagnose the case as X-linked juvenile retinoschisis because there was no family history of it, central foveal reflex was observed in right eye with corrected visual acuity of 1.2, and no abnormality was recorded in the electroretinogram. High molecular weight DNA was extracted from peripheral leukocytes, and the XLRS 1 gene was analyzed. Hemizygous missense mutation, Arg102Gln, was detected. We diagnosed the disease as X-linked juvenile retinoschisis because the Arg102Gln mutation was detected in a family in Germany, two families in the United Kingdom, and two families in the USA. CONCLUSION: XLRS 1 gene analysis is useful if the diagnosis is difficult clinically due to atypical clinical findings.
Assuntos
Doenças Retinianas/diagnóstico , Pré-Escolar , DNA/análise , Proteínas do Olho/genética , Humanos , Masculino , Mutação de Sentido Incorreto , Doenças Retinianas/genéticaRESUMO
Background: We report on a 3-year-old boy who was first diagnosed with retinal detachment and macular hole and received surgical treatment. X-linked juvenile retinoschisis was determined by DNA analysis.Case: Past or family history was not recognized. There was left macular hole but no typical spoke-like foveal retinoschisis was observed in either eye. We could not diagnose the case as X-linked juvenile retinoschisis because there was no family history of it, central foveal reflex was observed in the right eye with corrected visual acuity of 1.2, and no abnormality was recorded in the electroretinogram. High molecular weight DNA was extracted from peripheral leukocytes, and the XLRS 1 gene was analyzed. Hemizygous missense mutation, Arg102Gln, was detected. We diagnosed the disease as X-linked juvenile retinoschisis because the Arg102Gln mutation was detected in a family in Germany, two families in the United Kingdom, and two families in the USA.Conclusion: XLRS 1 gene analysis is useful if the diagnosis is difficult clinically due to aytpical clinical findings.