Miyake Yozo
Nagoya University, 3-707 Suishouenn, Moriyamaku, Nagoya 463-0010, Japan.
Int J Mol Sci. 2025 May 28;26(11):5166. doi: 10.3390/ijms26115166.
In the past, only Oguchi disease was reported as a hereditary retinal disease from Japan. Dr. Chuuta Oguch was a Professor of Nagoya University in Japan. During the past 40 years, four new clinical entities in hereditary retinal disorders have been detected by the Miyake group from Nagoya, Japan. All disorders show essentially normal fundi, and the diagnosis was made mainly by the analysis of an electroretinogram (ERG). Gene mutations are detected in three of them. Bipolar cell (BP) dysfunction syndrome: Congenital stationary night blindness (CSNB) with negative ERG (a-wave is larger than b-wave) was named as the Schubert-Bornschein type in 1952 and considered to be an independent clinical entity. In 1986, Miyake group classified ninety patients with the Schubert-Bornschein type into two types (complete and incomplete type). The complete type of CSNB (CSNB1) showed no rod function, but the incomplete type CSNB (CSNB2) showed remaining rod function in both subjective dark adaptation and rod ERG. In order to investigate the pathogenesis, these two types of CSNB were analyzed by comparing the monkey ERGs using different glutamate analogs to the retina. The ERG analysis demonstrated that CSNB1 has a complete functional defect in the ON type BP, while CSNB2 has incomplete functional defects in the ON and OFF type BP in both rod and cone visual pathways. Evidence of several different genetic heterogeneities was reported in both diseases, indicating CSNB1 and CSNB2 are independent clinical entities. Another entity, showing total complete defect of both ON and OFF BP, was detected in 1974 and was reported by Miyake group in a brother and younger sister, showing severe photophobia, nystagmus, extremely low visual acuity, and disappearance of color vision (total color blindness). This disorder is a congenital stational condition, and subjective visual functions were severely deteriorated from birth but remained unchanged through life. This disease was termed "Total complete bipolar cell dysfunction syndrome (CSNB3)". The relationship between BP and subjective visual function was unknown. These three kinds of BP diseases can provide information on how BP relates to subjective visual functions. Occult macular dystrophy (OMD): Occult macular dystrophy (OMD) was discovered by Miyake group in 1989. This disease shows an unusual, inherited macular dystrophy characterized by progressive decrease visual acuity due to macular dysfunction, but the fundus and fluorescein angiography are essentially normal. The full-field rod and cone ERG do not show any abnormality, but the focal macular ERG (FERG) or multifocal ERG is abnormal and the only method for diagnosis. Many pedigrees of this disorder suggest autosomal dominant heredity, showing a genetic mutation of . This disease was termed "occult macular dystrophy". "Occult" means "hidden from sight". Recently, it has been called "Miyake disease".
过去，日本仅报告小口病是一种遗传性视网膜疾病。小口忠太博士是日本名古屋大学的教授。在过去40年里，日本名古屋的三宅组发现了遗传性视网膜疾病中的四个新临床类型。所有这些病症的眼底基本正常，诊断主要通过视网膜电图（ERG）分析来进行。其中三种检测到了基因突变。双极细胞（BP）功能障碍综合征：先天性静止性夜盲（CSNB）伴ERG阴性（a波大于b波）在1952年被命名为舒伯特 - 博恩施泰因型，并被认为是一个独立的临床类型。1986年，三宅组将90例舒伯特 - 博恩施泰因型患者分为两种类型（完全型和不完全型）。完全型CSNB（CSNB1）无视杆功能，但不完全型CSNB（CSNB2）在主观暗适应和视杆ERG中均显示有残余视杆功能。为了研究其发病机制，通过向视网膜使用不同的谷氨酸类似物比较猴的ERG来分析这两种类型的CSNB。ERG分析表明，CSNB1在ON型BP中有完全功能性缺陷，而CSNB2在视杆和视锥视觉通路的ON型和OFF型BP中均有不完全功能性缺陷。两种疾病均报道了几种不同遗传异质性的证据，表明CSNB1和CSNB2是独立的临床类型。另一个类型在1974年被发现，三宅组报告了一对兄妹患有此病，表现为严重畏光、眼球震颤、极低视力以及色觉消失（全色盲）。这种病症是一种先天性静止性疾病，主观视觉功能自出生起就严重受损且终生不变。这种疾病被称为“完全性双极细胞功能障碍综合征（CSNB3）”。BP与主观视觉功能之间的关系尚不清楚。这三种BP疾病可以提供有关BP与主观视觉功能如何相关的信息。隐匿性黄斑营养不良（OMD）：隐匿性黄斑营养不良（OMD）由三宅组于1989年发现。这种疾病表现为一种不寻常的、遗传性黄斑营养不良，其特征是由于黄斑功能障碍导致视力逐渐下降，但眼底和荧光素血管造影基本正常。全视野视杆和视锥ERG未显示任何异常，但黄斑局部ERG（FERG）或多焦ERG异常，这是唯一的诊断方法。这种疾病的许多家系提示常染色体显性遗传，显示有……的基因突变。这种疾病被称为“隐匿性黄斑营养不良”。“隐匿性”意为“看不见的”。最近，它被称为“三宅病”。
