AIM: To study macular features in patients with congenital nystagmus and to assess the utility of spectral-domain optical coherence tomography (SD-OCT) in nystagmus. METHODS: The macular areas of 51 outpatients with c...AIM: To study macular features in patients with congenital nystagmus and to assess the utility of spectral-domain optical coherence tomography (SD-OCT) in nystagmus. METHODS: The macular areas of 51 outpatients with congenital nystagmus were examined using SD-OCT. Morphological changes in the retinal layers of the macular area were analysed. RESULTS: Macular images were successfully obtained with SD-OCT from 50 (98%) patients. Patients with ocular albinism mainly have macular hypoplasia, abnormal foveal depression, and increased foveal thickness with persistence of an inner nuclear layer, an inner plexiform layer, a ganglion cell layer and a nerve fiber layer. Macular morphology similar to albinism was observed in three patients with idiopathic macular hypoplasia. The OCT findings of cone dystrophy included unclear, disrupted or invisible photoreceptor outer segment/inner segment in the fovea; fusion, thickening and uneven reflection of the outer segment/inner segment with external limiting membrane. Some patients with congenital idiopathic nystagmus showed normal macular morphology and structure, and others showed indistinct macular external limiting membrane reflection. CONCLUSION: SD-OCT is an effective and reliable method to detect the macular morphology of congenital nystagmus patients. This technique has diagnostic value in particular for patients with macular hypoplasia and cone cell dystrophy with no distinct abnormality on fundoscopy.展开更多
目的研究一个先天性特发性眼球震颤家系的致病基因。方法选取X染色体上微卫星标记物，通过PCR扩增后，进行基因组扫描。应用GeneMapper软件进行PCR扩增产物片段大小和单倍型分析，Linkage5．1软件进行两点汉连锁值（Log of odds，LOD）...目的研究一个先天性特发性眼球震颤家系的致病基因。方法选取X染色体上微卫星标记物，通过PCR扩增后，进行基因组扫描。应用GeneMapper软件进行PCR扩增产物片段大小和单倍型分析，Linkage5．1软件进行两点汉连锁值（Log of odds，LOD）计算，通过基因序列分析发现致病基因突变。结果经两点法计算，在DXS1047可获最大LOD值为8．55；基因序列分析发现FRMD7基因第9外显子存在G990T的杂合性基因突变。结论FRMD7基因突变是导致该家系出现疾病的主要原因。展开更多
文摘AIM: To study macular features in patients with congenital nystagmus and to assess the utility of spectral-domain optical coherence tomography (SD-OCT) in nystagmus. METHODS: The macular areas of 51 outpatients with congenital nystagmus were examined using SD-OCT. Morphological changes in the retinal layers of the macular area were analysed. RESULTS: Macular images were successfully obtained with SD-OCT from 50 (98%) patients. Patients with ocular albinism mainly have macular hypoplasia, abnormal foveal depression, and increased foveal thickness with persistence of an inner nuclear layer, an inner plexiform layer, a ganglion cell layer and a nerve fiber layer. Macular morphology similar to albinism was observed in three patients with idiopathic macular hypoplasia. The OCT findings of cone dystrophy included unclear, disrupted or invisible photoreceptor outer segment/inner segment in the fovea; fusion, thickening and uneven reflection of the outer segment/inner segment with external limiting membrane. Some patients with congenital idiopathic nystagmus showed normal macular morphology and structure, and others showed indistinct macular external limiting membrane reflection. CONCLUSION: SD-OCT is an effective and reliable method to detect the macular morphology of congenital nystagmus patients. This technique has diagnostic value in particular for patients with macular hypoplasia and cone cell dystrophy with no distinct abnormality on fundoscopy.
文摘目的研究一个先天性特发性眼球震颤家系的致病基因。方法选取X染色体上微卫星标记物，通过PCR扩增后，进行基因组扫描。应用GeneMapper软件进行PCR扩增产物片段大小和单倍型分析，Linkage5．1软件进行两点汉连锁值（Log of odds，LOD）计算，通过基因序列分析发现致病基因突变。结果经两点法计算，在DXS1047可获最大LOD值为8．55；基因序列分析发现FRMD7基因第9外显子存在G990T的杂合性基因突变。结论FRMD7基因突变是导致该家系出现疾病的主要原因。
