Ogino Ken, Oishi Akio, Oishi Maho, Gotoh Norimoto, Morooka Satoshi, Sugahara Masako, Hasegawa Tomoko, Miyata Manabu, Yoshimura Nagahisa
Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan.
Transl Vis Sci Technol. 2016 Mar 4;5(2):4. doi: 10.1167/tvst.5.2.4. eCollection 2016 Mar.
We evaluated the efficacy of column scatter plots to describe genotype-phenotype correlations in a Japanese cohort with retinitis pigmentosa (RP).
Clinical records of 121 patients with RP with identified causative mutations were reviewed. Visual acuity, central and peripheral visual fields, electroretinography (ERG), lens status, and measurements of optical coherence tomography were evaluated according to causative genes using column scatter plots. Values for three common genes (, , and ) were compared statistically.
All patients with , , and mutations, those 55 years old or younger with and mutations, and those 45 years old or younger with and mutations retained visual acuity of at least 0.1. All patients with mutations showed at least -20 dB mean deviation. Goldmann perimeter measures of 4/6 patients with mutations showed remaining peripheral visual fields. Dark-adapted 0.01 and 3.0 ERGs were extinguished for most genes. Half of the patients with RP maintained cone responses in light-adapted 3.0 and 3.0 flicker ERG. All patients with , those 55 years old or younger with and , and those 45 years old or younger with and mutations maintained subfoveal ellipsoid zones. No differences were identified between and or and .
Column scatter plots enabled comparisons of the associated severities and illustration of the ophthalmological measurements for every RP causative gene.
Analysis of mutations in specific genes may be helpful for determining visual prognoses in the clinical setting.
我们评估了柱状散点图在描述日本视网膜色素变性（RP）队列中基因型-表型相关性方面的有效性。
回顾了121例已确定致病突变的RP患者的临床记录。使用柱状散点图根据致病基因评估视力、中央和周边视野、视网膜电图（ERG）、晶状体状态以及光学相干断层扫描测量结果。对三个常见基因（、和）的值进行统计学比较。
所有携带、和突变的患者，55岁及以下携带和突变的患者，以及45岁及以下携带和突变的患者，视力至少保持在0.1。所有携带突变的患者平均偏差至少为-20 dB。6例携带突变患者中的4例Goldmann视野计测量结果显示仍有周边视野。大多数基因的暗适应0.01和3.0 ERG熄灭。一半的RP患者在明适应3.0和3.0闪烁ERG中保持视锥细胞反应。所有携带、55岁及以下携带和、45岁及以下携带和突变的患者均保持黄斑下椭圆体带。和或和之间未发现差异。
柱状散点图能够比较相关严重程度，并展示每个RP致病基因的眼科测量结果。
特定基因突变分析可能有助于在临床环境中确定视觉预后。
