A rare case of oguchi disease exhibiting the classic Mizuo-Nakamura phenomenon
| Autor: | Alhaj Farhath Tasneem, Nischala Balakrishna, Vittal I Nayak, Sara Nastain, Nagalakshmi Narayana-Swamy |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Congenital stationary night blindness
medicine.medical_specialty Visual acuity genetic structures business.industry Oguchi disease Adaptation (eye) Fundus (eye) medicine.disease eye diseases Neuro-ophthalmology Ophthalmology Retinitis pigmentosa Medicine Pediatric ophthalmology sense organs medicine.symptom business |
| Zdroj: | Indian Journal of Clinical and Experimental Ophthalmology. 6:660-663 |
| ISSN: | 2395-1451 2395-1443 |
| DOI: | 10.18231/j.ijceo.2020.141 |
| Popis: | Introduction: Oguchi disease also called congenital stationary night blindness is an autosomal recessivegenetic condition first identified in Japan with a few cases reported in other countries like Europe, America, India and Pakistan. We report one such case exhibiting the Mizuo-Nakamura phenomenon with a reduced amplitude on the b-wave of the rod electroretinogram advocating this diagnosis. Case Report: A 40-year-old man presented with complaints of non-progressive decrease in vision as the day progressed for 6 months with normal vision during the day in both eyes. There was no history of trauma or any other ocular or systemic disease. His parents had a second-degree consanguineous marriage and his father experienced similar symptoms. Visual acuity for distance was 6/6 and N6 for near in both eyes. His anterior segment and posterior segments were normal. When the patient was put to dark adaptation for 3 hours, there was a change in his fundus background colour from grey to red (Mizuo-Nakamura phenomenon). The b-wave amplitude was decreased on the rod electroretinogram. The cone electroretinogram on the other hand was normal. All this was confirmed by his genetic study which favoured this diagnosis. Conclusion: This disease presents with features similar to retinitis pigmentosa in terms of mutations in the SAG gene. This highlights the importance of the Mizou-Nakamura phenomenon in formulating a confirmatory diagnosis and treatment protocol. Keywords: Congenital stationary night blindness, Mizuo-Nakamura phenomenon, Oguchi disease, Rod electroretinogram. |
| Databáze: | OpenAIRE |
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