CHROMOSOME 19Q CONE-ROD RETINAL DYSTROPHY - OCULAR PHENOTYPE
CHROMOSOME 19Q CONE-ROD RETINAL DYSTROPHY - OCULAR PHENOTYPE
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DOI：
10.1001/archopht.1995.01100020079033
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发表时间：
1995-02-01
影响因子：
--
通讯作者：
BIRD, AC
中科院分区：
文献类型：
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作者：
EVANS, K;DUVALLYOUNG, J;BIRD, AC
目的：描述染色体分配至 19q 位点的显性遗传性视杆细胞营养不良家族的表型，并将其与当前视网膜营养不良的分类相关联。设计：对所有家庭成员进行了详细的临床检查，包括 Goldmann 视野检查。 6 名 30 岁以下的成员接受了暗适应视网膜电图检查、颜色对比敏感度测量、暗适应静态视野检查和暗适应测量。 患者：该研究包括 4 代谱系中的 34 名受影响患者和 22 名未受影响患者，这些患者表现出常染色体显性锥杆状视网膜营养不良，通过遗传连锁分析与染色体 19q 位点相关。 结果： 视力丧失发生在生命的第一个十年，20岁后开始出现夜盲症，50岁后几乎没有视觉功能。中央和后来的周边视网膜眼底变化与中央暗点、假垂直视野缺陷以及最终的整体功能丧失相关。 26 岁之前的心理物理和电生理测试显示，视锥细胞功能的丧失比视杆细胞功能的丧失更明显。结论：与该突变相关的表型与之前的视锥细胞营养不良亚型不太相符。需要进一步的研究来将这组疾病中的特定基因突变与各种临床表型联系起来。
Objective: To describe the phenotype in a family with dominantly inherited cone-rod dystrophy with chromosome assignment to a 19q locus, and to correlate this with current classifications of this retinal dystrophy.Design: A detailed clinical examination including Goldmann perimetry was undertaken in all family members. Six members under the age of 30 years underwent dark-adapted electroretinography, color contrast-sensitivity measurement, dark-adapted static perimetry, and dark adaptometry.Patients: The study included 34 affected and 22 unaffected patients in four generations of a pedigree that manifested autosomal dominant cone-rod retinal dystrophy linked to a chromosome 19q locus by genetic linkage analysis.Results: Loss of visual acuity occurred in the first decade of life, onset of night blindness occurred after 20 years of age, and little visual function remained after the age of 50 years. Central and, later, peripheral retinal fundus changes were associated with central scotoma, pseudoaltitudinal field defects, and finally global loss of function. Psychophysical and electrophysiologic testing before the age of 26 years showed more marked loss of cone than rod function.Conclusions: The phenotype associated with this mutation does not fit well into previous subtypes of cone-rod dystrophy. Further studies will be needed to correlate specific genetic mutations in this group of conditions with the various clinical phenotypes.