Abstract
The purpose of this study was to report a patient with Oguchi disease whose ophthalmological characteristics were masked by retinitis pigmentosa (RP). The method used in this study was case report. A 53-year-old man had a progressive decrease in his visual acuity and was diagnosed with RP because of night blindness, fundoscopic findings, ring scotoma, and extinguished single-flash electroretinograms (ERGs). However, a faint golden-yellowish reflex of the retina prompted us to make a more detailed examination of the fundus after a long period of dark adaptation, ERGs, and genetic analysis. Examinations showed the Mizuo-Nakamura phenomenon, relative intact photopic ERGs, and a SAG mutation, and the patient was diagnosed with RP associated with Oguchi disease. When RP accompanies Oguchi disease, the clinical characteristics of Oguchi disease might be masked. In such a situation, the correct diagnosis is difficult. However, careful analysis of clinical findings will suggest Oguchi disease, which can be confirmed by molecular genetics.
References
Oguchi C (1907) On a type of night-blindness. Acta Soc Ophthalmol Jpn 11:123–134 (Japanese)
Miyake Y (2006) Oguchi’s disease. In: Miyake Y (ed) Electrodiagnosis of retinal diseases. Springer, Tokyo, pp 119–122
Miyake Y, Horiguchi M, Suzuki S, Kondo M, Tanikawa A (1996) Electrophysiological findings in patients with Oguchi’s disease. Jpn J Ophthalmol 40:511–519
Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A (1995) A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet 10:360–362
Yamamoto S, Sippel KC, Berson EL, Dryja TP (1997) Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 15:175–178
Tanaka K (1942) A case of Oguchi’s disease with retinitis pigmentosa. Jpn Rev Clin Ophthalmol 37:1237 (Japanese)
Shimizu S (1942) A family with Oguchi’s disease and with retinitis pigmentosa accompanied with glaucoma. Jpn Rev Clin Ophthalmol 40:218–219 (Japanese)
Yamanaka M (1969) Histologic study of Oguchi’s disease. Its relationship to pigmentary degeneration of the retina. Am J Ophthalmol 68:19–26
Maw M, Kumaramanickave G, Kar B, Kar B, John S, Bridges R, Denton M (1998) Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. Hum Mutat (Suppl 1):S317–S319
Nakazawa M, Wada Y, Fuchs S, Gal A, Tamai M (1997) Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene. Retina 17:17–22
Hayashi T, Tsuzuranuki S, Kozaki K, Urashima M, Tsuneoka H (2011) Macular dysfunction in Oguchi disease with the frequent mutation 1147delA in the SAG gene. Ophthalmic Res 46:175–180
Nakazawa M, Wada Y, Tamai M (1998) Arrestin gene mutations in autosomal recessive retinitis pigmentosa. Arch Ophthalmol 116:498–501
Nakamachi Y, Nakamura M, Fujii S, Yamamoto M, Okubo K (1998) Oguchi disease with sectoral retinitis pigmentosa haboring adenine deletion at position 1147 in the arrestin gene. Am J Ophthalmol 125:249–251
Wali L, Leguire LE (1992) The photopic hill: a new phenomenon of the light adapted electroretinogram. Doc Ophthalmol 80:335–342
Nakamura M, Yamamoto S, Okada M, Ito Y, Miyake Y (2004) Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi’s disease. Ophthalmology 111:1410–1414
Saga M, Mashima Y, Kudoh J, Oguchi Y, Shimizu N (2004) Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease. Jpn J Ophthalmol 48:350–352
Yoshii M, Murakami A, Akeo K, Nakamura A, Shimoyama M, Ikeda Y, Kikuchi Y, Okisaka S, Yanashima K, Oguchi Y (1998) Visual function and gene analysis in family with Oguchi disease. Ophthalmic Res 30:394–401
Gurevich VV, Gurevich EV (2006) The structural basis of arrestin-mediated regulation of G-protein-coupled receptors. Pharmacol Ther 110:465–502
Isashiki Y, Ohba N, Kimura K, Sonoda S, Kakiuchi T, Ozawa T (1999) Retinitis pigmentosa with visual fluctuation and arrestin gene mutation. Br J Ophthalmol 83:1197–1198
Majima K (1954) Report of a patient with Oguchi disease. Jpn Rev Clin Ophthalmol 48:121 (Japanese)
Acknowledgments
No author has a financial or proprietary interest in any material or method mentioned. Support of this study was provided by Research Grants from the Ministry of Health, Labor, and Welfare, Japan.
Conflict of interest
None.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sonoyama, H., Shinoda, K., Ishigami, C. et al. Oguchi disease masked by retinitis pigmentosa. Doc Ophthalmol 123, 127–133 (2011). https://doi.org/10.1007/s10633-011-9286-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10633-011-9286-x