Farrell Donald F
EEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USA.
Clin Ophthalmol. 2009;3:263-70. doi: 10.2147/opth.s5130. Epub 2009 Jun 2.
The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod dystrophy and to compare the similarities and dissimilarities to those found in the bilateral forms of these disorders.
A total of 272 cases of retinitis pigmentosa and 167 cases of cone-rod dystrophy were studied by corneal full field electroretinograms and electrooculograms. The student t-test was used to compare categories.
The percentage of familial and nonfamilial cases was the same for the bilateral and unilateral forms of the disease. In our series, unilateral retinitis pigmentosa makes up approximately 5% of the total population of retinitis pigmentosa, while unilateral cone-rod dystrophy makes up only about 2% of the total. In the familial forms of unilateral retinitis pigmentosa the most common inheritance pattern was autosomal dominant and all affected relatives had bilateral disease.
Unilateral retinitis pigmentosa and cone-rod dystrophy appear to be directly related to the more common bilateral forms of these disorders. The genetic mechanisms which account for asymmetric disorders are not currently understood. It may be a different unidentified mutation at a single loci or it is possible that nonlinked mutations in multiple loci account for this unusual disorder.
本文旨在报告14例单侧视网膜色素变性新病例和3例视锥视杆营养不良新病例，并比较这些病例与双侧形式的这些疾病之间的异同。
通过角膜全视野视网膜电图和眼电图对总共272例视网膜色素变性病例和167例视锥视杆营养不良病例进行了研究。使用学生t检验比较各分类。
该疾病的双侧和单侧形式中，家族性和非家族性病例的百分比相同。在我们的系列研究中，单侧视网膜色素变性约占视网膜色素变性总人口的5%，而单侧视锥视杆营养不良仅占总数的约2%。在单侧视网膜色素变性的家族形式中，最常见的遗传模式是常染色体显性遗传，所有受影响的亲属均患有双侧疾病。
单侧视网膜色素变性和视锥视杆营养不良似乎与这些疾病更常见的双侧形式直接相关。目前尚不清楚导致不对称疾病的遗传机制。可能是单个基因座上的不同未识别突变，或者多个基因座上的非连锁突变可能导致了这种不寻常的疾病。
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