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Oguchi Disease with Unusual Findings Associated with A addition, the duration of treatment to induce retinal re- a golden-yellow discoloration of the fundus that disap- attachment is currently unknown. However, patients with pears after prolonged dark adaptation, called the Mizuo- IH have been treated for several months. Nakamura phenomenon. The International Society for Hemangiomas consist histologically of cavernous and Clinical Electrophysiology of Vision–protocol bright- capillary vascular networks. The mechanism by which flash electroretinograms (ERGs), performed after 30 min- oral propranolol aids in the resolution of exudative reti- utes of dark adaptation, are typically electronegative with nal detachment in DCH associated with Sturge-Weber a severely reduced b-wave and milder reduction of the syndrome is unknown. It is possible that, similar to IH, a-wave.1,2 After 3 to 4 hours of dark adaptation, both am- there is vasoconstriction of the DCH due to decreased plitudes recover to nearly normal, especially the a- release of nitric oxide, blocking of proangiogenic sig- wave.2 However, the recovered rod function is rapidly lost nals including vascular endothelial growth factor and ba- after a short light exposure or a single bright white flash.2,3 sic fibroblast growth factor, and apoptosis in proliferat- We describe a case of Oguchi disease with unusual find- ing endothelial cells with vascular tumor regression.5 ings caused by a putative heterozygous mutation in the To our knowledge, the benefits of propranolol therapy SAG gene. have not been reported in adult hemangioma or for DCH. This is the first reported case of propranolol treatment Report of a Case. A 40-year-old woman with visual acu- in an adult with exudative retinal detachment in DCH ity of 20/20 OU had fundus abnormalities and was re- associated with Sturge-Weber syndrome. ferred to our institute. She had photophobia but did not report night blindness. There was no autosomal domi- J. Fernando Arevalo, MD nant family history. The retina had a golden-yellow ap- Juan D. Arias, MD pearance (Figure, A). The Mizuo-Nakamura phenom- Martin A. Serrano, MD enon was observed after 30 minutes of dark adaptation Author Affiliations: Retina and Vitreous Service, Clı´nica (Figure, B). Sequencing of the SAG gene identified a het- Oftalmolo´gica Centro Caracas, Caracas, Venezuela. Dr erozygous mutation of 1147del A at codon 309. No mu- Arevalo is now with the Retina Division, Wilmer Eye In- tation was found in GRK1. stitute, Johns Hopkins University School of Medicine, Bal- The International Society for Clinical Electrophysi- timore, Maryland, and the Vitreoretinal Division, King ology of Vision protocol was used to record the ERGs. Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. The scotopic ERGs after 30 minutes of dark adaptation Correspondence: Dr Arevalo, Vitreoretinal Division, King showed slightly reduced amplitude and delayed im- plicit time in b-wave (Figure, C). The bright-flash ERG Khaled Eye Specialist Hospital, Al-Oruba Street, PO Box 2 7191, Riyadh 11462, Saudi Arabia (arevalojf@jhmi (30 candelas·seconds/m ) had a positive configuration, .edu). although the b:a ratio was lower than normal (Figure, Financial Disclosure: None reported. C). The photopic and flicker ERGs performed after 10 Funding/Support: This work was supported in part by minutes of light adaptation were normal (Figure, C). To the Arevalo-Coutinho Foundation for Research in Oph- determine the extent of the rod function recovery, bright- thalmology, Caracas, Venezuela. flash ERGs were recorded 4 times at 30-second inter- Previous Presentation: This paper was presented at the vals after 30 minutes of dark adaptation. During the 4 34th Annual Meeting of the Macula Society; March 9, stimuli, the waveform changed from the positive pat- 2011; Boca Raton, Florida. tern to a negative configuration with a severely reduced b-wave and additional milder reduction of the a-wave, 1. Schilling H, Sauerwein W, Lommatzsch A, et al. Long-term results after low which is characteristic of homozygous Oguchi disease dose ocular irradiation for choroidal haemangiomas. Br J Ophthalmol. 1997; 81(4):267-273. (Figure, D). To our knowledge, this phenomenon has 2. Anand R. Photodynamic therapy for diffuse choroidal hemangioma associ- never been reported in normal eyes, in eyes with the typi- ated with Sturge Weber syndrome. Am J Ophthalmol. 2003;136(4):758-760. cal type of Oguchi disease, or in other cases of Oguchi 3. Le´aute´-Labrèze C, Dumas de la Roque E, Hubiche T, Boralevi F, Thambo JB, Taı¨eb A. Propranolol for severe hemangiomas of infancy. N Engl J Med. 2008; disease with the same heterozygous SAG mutation (Figure, 358(24):2649-2651. D). The superimposed ERGs elicited by the 4 consecu- 4. Siegfried EC, Keenan WJ, Al-Jureidini S. More on propranolol for hemangio- tive flashes show the variation of rod function recovery mas of infancy. N Engl J Med. 2008;359(26):2846. 5. Storch CH, Hoeger PH. Propranolol for infantile haemangiomas: insights into (Figure, E). the molecular mechanisms of action. Br J Dermatol. 2010;163(2):269-274. 6. Sans V, de la Roque ED, Berge J, et al. Propranolol for severe infantile hem- angiomas: follow-up report. Pediatrics. 2009;124(3):e423-e431. Comment. To our knowledge, this is the first case of Ogu- chi disease with a distinct fundus appearance and mild electrophysiological abnormalities associated with a pu- tative heterozygous SAG mutation. However, we cannot Oguchi Disease With Unusual Findings exclude the possibility that another mutation exists in Associated With a Heterozygous Mutation the intron of another allele, which causes the mild phe- in the SAG Gene notype in this patient. The repetitive-flash ERG protocol was crucial for the guchi disease is a type of congenital stationary diagnosis. It has been reported that double- or triple- night blindness with an autosomal recessive in- flash stimulations after prolonged dark adaption induce heritance pattern. Two causative genes have ERG alterations in typical patients with Oguchi dis- O 3 been reported for Oguchi disease: the SAG and GRK1 ease. However, the use of a 30-second interval allowed genes. Homozygous Oguchi disease is characterized by us to follow the degree of rod function recovery. ARCH OPHTHALMOL / VOL 129 (NO. 10), OCT 2011 WWW.ARCHOPHTHALMOL.COM 1375 ©2011 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/23/2021 Case Carrier Typical Healthy DA 0.016 (Rod) A C DA 30.0 LA 2.7, 2 Hz LA 2.7, 30 Hz 50 µV 50 µV 50 µV 50 µV 10 ms 10 ms 10 ms 10 ms DA 30.0 Repetitive B D First Second Third Fourth 50 µV 50 µV 50 µV 50 µV 10 ms 10 ms 10 ms 10 ms Superimposed E 50 µV 50 µV 50 µV 50 µV 10 ms 10 ms 10 ms 10 ms Figure. Fundus photographs showing the Mizuo-Nakamura phenomenon before (A) and after (B) 30 minutes of dark adaptation. C, The electroretinograms (ERGs) recorded according to the International Society for Clinical Electrophysiology of Vision protocol. D, The ERGs elicited by 4 repetitive flashes at interstimulus intervals of 30 seconds. E, Superimposed ERGs elicited by 4 flashes. The ERGs are from our patient with Oguchi disease (case), another patient with Oguchi disease with a heterozygous mutation (carrier), a typical patient with Oguchi disease, and a healthy subject. DA indicates dark adaptation; LA, light adaptation. Arrestin and rhodopsin kinase act in sequence to de- Author Affiliations: Laboratory of Visual Physiology, Na- activate rhodopsin to stop the phototransduction cas- tional Institute of Sensory Organs, National Tokyo Medi- cade.4 Results of molecular biological studies have sug- cal Center (Drs Fujinami, Tsunoda, and Miyake) and De- gested that residual arrestin activity correlates with the partment of Ophthalmology, Keio University of Medicine severity of the clinical phenotype.5 However, in our case (Dr Oguchi), Tokyo, and Department of Ophthalmol- it was more difficult to determine the relationship be- ogy, Nagoya University Graduate School of Medicine, tween the putative heterozygous mutation of the SAG gene Aichi (Dr Nakamura), Japan. and the mild electrophysiological abnormalities in the rod Correspondence: Dr Tsunoda, Laboratory of Visual Physi- function recovery. A modifying effect of deactivating rho- ology, National Institute of Sensory Organs, National dopsin should be considered. Tokyo Medical Center, 2-5-1, Higashigaoka, Meguro- The time required for the reappearance of the rod func- ku, Tokyo 152-8902, Japan (tsunodakazushige@kankakuki tion demonstrated in the electrophysiological study and .go.jp). the time required to demonstrate the Mizuo-Nakamura Financial Disclosure: None reported. phenomenon were nearly identical. We suggest that the physiological basis for the Mizuo-Nakamura phenom- 1. Carr RE, Gouras P. Oguchi’s disease. Arch Ophthalmol. 1965;73:646-656. 2. Miyake Y, Horiguchi M, Suzuki S, Kondo M, Tanikawa A. Electrophysiologi- enon may be closely related to the abnormal deactiva- cal findings in patients with Oguchi’s disease. Jpn J Ophthalmol. 1996;40(4): tion of rhodopsin. 511-519. 3. Gouras P. Electroretinography: some basic principles. Invest Ophthalmol. 1970; Kaoru Fujinami, MD 9(8):557-569. 4. Ohguro H, Van Hooser JP, Milam AH, Palczewski K. Rhodopsin phosphory- Kazushige Tsunoda, MD, PhD lation and dephosphorylation in vivo. JBiolChem. 1995;270(24):14259- Makoto Nakamura, MD, PhD 14262. 5. Dryja TP. Molecular genetics of Oguchi disease, fundus albipunctatus, and Yoshihisa Oguchi, MD, PhD other forms of stationary night blindness: LVII Edward Jackson Memorial Yozo Miyake, MD, PhD Lecture. Am J Ophthalmol. 2000;130(5):547-563. ARCH OPHTHALMOL / VOL 129 (NO. 10), OCT 2011 WWW.ARCHOPHTHALMOL.COM 1376 ©2011 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/23/2021.
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