RESUMEN
BACKGROUND: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation spectrum is large and the phenotype variable. AIM: To determine whether there is a correlation between mutation type and disease severity. METHODS: We identified the causative mutation in 86 affected patients and examined each of these patients in detail. Different categories of mutation were compared for each phenotypic characteristic. RESULTS: We found a reduction in visual acuity with increasing age and worsening macular pathology in patients over 30 years old (p < or = 0.001), but there was no correlation between mutation type and severity of disease. Furthermore, we found a wide variation in phenotype even within families. CONCLUSIONS: Identifying the causative mutation in patients with X-linked retinoschisis is helpful in confirming diagnosis and in counselling of family members but cannot be used to predict prognosis for an individual patient.
Asunto(s)
Proteínas del Ojo/genética , Retinosquisis/diagnóstico , Adolescente , Adulto , Anciano , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Retinosquisis/genética , Reino UnidoAsunto(s)
Anemia Megaloblástica/diagnóstico , Células Fotorreceptoras de Vertebrados/patología , Degeneración Retiniana/diagnóstico , Tiamina/uso terapéutico , Adulto , Anemia Megaloblástica/tratamiento farmacológico , Anemia Megaloblástica/genética , Humanos , Masculino , Proteínas de Transporte de Membrana/genética , Células Fotorreceptoras de Vertebrados/efectos de los fármacos , Degeneración Retiniana/tratamiento farmacológico , Degeneración Retiniana/genética , SíndromeRESUMEN
BACKGROUND: This study compared the position of the foveal center in patients with X-linked retinoschisis (XLRS) and controls and estimated the frequency of foveal ectopia in XLRS. METHOD: Fundus photographs of 23 patients with XLRS and 25 controls were reviewed. The position of the foveal center relative to the vertical center of the optic disk was determined from magnified images and expressed as the angle between the disk and foveal centers, relative to the horizontal meridian. The shortest distance between the foveal and disk centers was also measured, using the horizontal disk diameter (HDD) as the relative size unit. RESULTS: The position of the foveal center could be determined accurately for 43 eyes of the 23 patients with XLRS. The foveal center was located an average of 4.7 degrees (standard deviation, 9.3) below and 3.2 HDD (standard deviation, 0.4) temporal to the vertical disk center. In 9 (21 %) of the eyes, the fovea was above the horizontal meridian. For the control eyes, the foveal center was an average of 7.8 degrees (standard deviation, 2.3) below and 2.9 HDD (standard deviation, 0.4) temporal to the vertical disk center. According to a previous definition, foveal ectopia was present in 13 (30%) of the eyes with XLRS and none of the control eyes (P < 0.001). CONCLUSION: Foveal ectopia occurs in at least 30% of eyes with XLRS. This finding may provide a useful diagnostic sign for XLRS and may have implications for its pathogenesis.