2002 Fiscal Year Final Research Report Summary
Molecular genetic and pathophysiological study of new hereditary retinal diseases.
| Project/Area Number |
13307048
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Nagoya University |
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Principal Investigator |
MIYAKE Yozo Nagoya University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (30166136)
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| Co-Investigator(Kenkyū-buntansha) |
KONDO Mineo Nagoya University, UniversityHospital, Assistant Professor, 医学部附属病院, 講師 (80303642)
NAKAMURA Makoto Nagoya University, Graduate School of Medicine, Assistant Professor, 大学院・医学系研究科, 講師 (60283438)
TERASAKI Hiroko Nagoya University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (40207478)
SUZUKI Satoshi Nagoya University, University Hospital, Assistant Professor, 医学部附属病院, 講師 (90314012)
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| Project Period (FY) |
2001 – 2002
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| Keywords | Occult macular dystrophy / congenital stationary night blindness / complete type / incomplete type / ON bipolar cell / OFF bipolar cell / CACNAlF gene / NYX gene |
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| Research Abstract |
"Occult macular dystrophy" is a new clinical entity detected by us and the clinical characteristics of 36 patients was studied. The autosomal dominant inheritance was suggested in 8 families. The visual acuity ranged from 0.1 to 1.0 and many patients showed red-green color vision deficiency. The fundi and fluorescein angiography were normal, however the detail analysis of OCT indicated that the thickness of the macula is significantly thinner than normal in many patients.
We demonstrated that the congenital stationary night blindness with negative ERG is classified into two subtypes, complete and incomplete type, which are different clinical entities. Our hypothesis was proven true by molecular genetics. We studied 90 patients in terms of the molecular genetics and several visual functions. About half of the patients with complete type, the NYX gene mutation was shown, and all incomplete type patients showed CACNA1F gene mutation. The ERG findings indicated that the complete type has the selective dysfunction of the ON bipolar cell, while incomplete type has the incomplete dysfunction of both ON and OFF bipolar cells.
Furthermore, the focal macular ERG recording, which we have developed suggested that the function of macula is different from other part of the retina in complete type. This result may be reasonable to explain that many patients show normal color vision and near normal contrast sensitivity in spite of the complete defect of ON visual pathway.
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