Delhi Journal of Ophthalmology

Oguchi’s Disease With Mizuo-Nakamura Phenomenon

Sugandha Goel, Debmalya Das, Kumar Saurabh, Rupak Roy, Sudipta Das, Eesh Nigam
Department of Vitreo Retina, Aditya Birla Sankara Nethralaya, Mukundapur, Kolkata, West Bengal, India

Corresponding Author:

Debmalya Das 
MBBS, DOMS, DNB
Department of Vitreo Retina
Aditya Birla Sankara Nethralaya, Mukundapur, Kolkata, West Bengal, India
Email: drdmd@snmail.org

Received: 24-JUL-2020

Accepted: 01-AUG-2020

Published Online: 09-JUL-2021

DOI:http://dx.doi.org/10.7869/djo.677

Abstract
Oguchi’s disease is an unusual form of congenital stationary night blindness with autosomal recessive inheritance. Mizuo-Nakamura phenomenon is classical of Oguchi’s disease. Full-field electroretinogram shows absent rod response and essentially normal cone-mediated response. The mixed rod–cone response has a negative configuration with relatively well-preserved oscillatory potentials. It recovers to a near normal level after a long period of dark adaptation. We herein report a case of Oguchi’s disease with Mizuo-Nakamura phenomenon.

Keywords :Oguchi’s; Mizuo-Nakamura Phenomenon; Electroretinogram

Oguchi’s disease is an unusual form of congenital stationary night blindness with autosomal recessive inheritance. It is caused by mutation of arrestin or rhodopsin kinase.1 We herein report a case of Oguchi’s disease with Mizuo-Nakamura phenomenon.

A 22-year-old male came with complaints of night blindness since childhood. His visual acuity was 20/20 in both eyes. Color vision was normal. Anterior segment examination was unremarkable. Fundus examination of both eyes revealed diffuse golden, tapetal-like sheen with mild retinal vascular attenuation (Figures 1a and 1b) which was extinguished after 45 minutes of dark adaptation with normal visible retinal vasculature (Figures 1c and 1d). This characteristic phenomenon observed on fundus examination from dark-adapted state to light adaptation is known as Mizuo-Nakamura phenomenon. There was no evidence of bony spicule pigmentation. Full field electroretinogram showed non-recordable single flash rod response with characteristic negative waveform morphology in combined rod-cone response and normal cone response (Figure 2). A diagnosis of Oguchi’s disease was made. Patient was advised for screening of family members and genetic counselling but patient was lost to follow up.





Mizuo-Nakamura phenomenon is classical of Oguchi’s disease.2 This can also be seen in retinitis pigmentosa,3 X-linked retinoschisis4 and cone-rod dystrophy.5 It has been reported that it occurs due to elevated extracellular potassium levels generated in the retina in response to an excessive stimulation of rod photoreceptors. Thus, a patient of Oguchi’s disease presents with characteristic clinical features. Electroretinogram corroborates the clinical findings. Full-field electroretinogram shows absent rod response and essentially normal cone-mediated response. The mixed rod–cone response has a negative configuration with relatively well-preserved oscillatory potentials. It recovers to a near normal level after a long period of dark adaptation.

References
  1. Dryja TP. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. Am J Ophthalmol. 2000 Nov;130(5):547–563. 
  2. Mittal K, Chawla R. Mizuo-Nakamura Phenomena. Ophthalmic Surg Lasers Imaging Retina. 2016 Nov 1;47(11):1068.
  3. Yuan A, Nusinowitz S, Sarraf D. Mizuo--Nakamura phenomenon with a negative waveform ERG.Br J Ophthalmol. 2011 Jan;95(1):147-8, 156. 
  4. De Jong PT, Zrenner E, van Meel GJ, Keunen JE, van Norren D. Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon. Arch Ophthalmol. 1991 Aug;109(8):1104–1108.
  5. Van Everdingen JA, Went LN, Keunen JE, Oosterhuis JA. X linked progressive cone dystrophy with specific attention to carrier detection. J Med Genet. 1992 May;29(5):291–294.

CITE THIS ARTICLE

Goel S, Das D, Saurabh K, Roy R, Das S, Nigam EOguchi’s Disease With Mizuo-Nakamura Phenomenon.DJO 2021;31:118-119

CITE THIS URL

Goel S, Das D, Saurabh K, Roy R, Das S, Nigam EOguchi’s Disease With Mizuo-Nakamura Phenomenon.DJO [serial online] 2021[cited 2021 Jul 28];31:118-119. Available from: https://www.djo.org.in/articles/31/4/Oguchis-Disease-With-Mizuo-Nakamura-Phenomenon.html