Commentary - (2025) Volume 0, Issue 0
Received: 06-Jun-2025, Manuscript No. IPACLR-25-15697 ; Editor assigned: 09-Jun-2025, Pre QC No. IPACLR-25-15697 (PQ); Reviewed: 23-Jun-2025, QC No. IPACLR-25-15697; Revised: 30-Jun-2025, Manuscript No. IPACLR-25-15697 (R); Published: 09-Jul-2025, DOI: 10.36648/2386-5180.25.13.S6.002
During the past 40 years, four newly detected hereditary retinal disorders were reported from Miyake group in Japan. Three of them are retinal bipolar cell disorders and one is macular dystrophy. All showed essentially normal fundus. The pathogenesis and gene mutation are mainly elucidated by Miyake group.
Bipolar cell (BP) disorders
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 90 patients with Schubert–Bornschein type CSNB into two types (complete and incomplete type) [1]. The complete type of CSNB (CSNB 1) showed no rod function, but the incomplete type CSNB (CSNB 2) showed remaining rod function in both subjective dark adaptation and rod ERG. Not only rod ERG, cone ERG showed significant difference, namely cone ERG is larger in CSNB 1 than CSNB 2. In order to investigate the pathogenesis of ON and OFF Bipolar cell (BP) functions, these two types of CSNB were analysed by comparing the monkey ERGs using different glutamate analogs to the retina. The ERG analysis demonstrated that CSNB 1 has a complete functional defect of the ON type BP while CSNB 2 has incomplete functional defects of both ON and OFF type BP in both rod and cone visual pathways [2,3]. Evidence of several different genetic heterogeneities was reported in both diseases, indicating CSNB 1 and CSNB 2 are independent and new clinical entities [3,4]. Another entity showing negative ERG and total complete defect of both ON and OFF BP, was reported in 1980 by Miyake group in a brother and younger sister [5]. They showed severe photophobia, nystagmus, extremely low visual acuity and disappearance of color vision (total color blindness), but the fundi and fluorescein angiography were completely normal. 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 (CSNB 3)”. The relationship between BP and subjective visual function was unknown. However, these three kinds of BP diseases can provide information on how BP relates to subjective visual functions.
Occult Macular Dystrophy (OMD)
We developed the most informative Focal macular ERG system (FERG) in 1986 [6]. Occult Macular Dystrophy (OMD) was discovered by Miyake group in 1989 using FERG [7,8]. This disease shows unusual inherited macular dystrophy characterized by progressive decrease visual acuity due to macular dysfunction, but the fundus and fluorescein angiography are essentially normal. “Occult” means hidden from sight, namely the fundus is normal. The full-field rod and cone ERG do not show any abnormality, but the FERG or multifocal ERG is abnormal and the only method for diagnosis. Many pedigrees of this disorder suggest autosomal dominant heredity and we found a genetic mutation of RP1L1 [9]. Accordingly, development of most informative diagnostic instrument, discovery of a new disease and discovery of the gene mutation, all these achievements were completed by Miyake group. This may be only one brilliant feat during the medical history. Recently, OMD is called “Miyake disease” [10]. In 2015, the Japanese Ministry of Health, Labor and Welfare for Medical Care declared Miyake disease as one of the limited diseases for priority functional support.
In the Japanese medical history, new hereditary retinal disease which was found from Japan was only Oguchi disease by Chuta Oguchi in 1907 [11]. Thereafter, Miyake group found 4 new hereditary retinal diseases form Nagoya, Japan as shown here. Dr. Ogucchi was also the Professor of Nagoya University.
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Citation: Miyake Y (2025) Commentary on Refined Clinical Entities in Hereditary Retinal Disorders from Japanâ??â??. Ann Clin Lab Vol.13 No.S6:002
Copyright: © 2025 Miyake Y. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.
