Koji M Nishiguchi1, Yasuhiro Ikeda2, Kosuke Fujita3, Hiroshi Kunikata4, Makoto Akiho5, Kazuki Hashimoto5, Katsuhiro Hosono6, Kentaro Kurata6, Yoshito Koyanagi2, Masato Akiyama2, Takefumi Suzuki7, Ryo Kawasaki8, Yuko Wada9, Yoshihiro Hotta6, Koh-Hei Sonoda2, Akira Murakami10, Mitsuru Nakazawa11, Toru Nakazawa12, Toshiaki Abe13. 1. Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan; Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan. Electronic address: nishiguchi@oph.med.tohoku.ac.jp. 2. Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. 3. Department of Ophthalmic Imaging and Information Analytics, Tohoku University Graduate School of Medicine, Sendai, Japan. 4. Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan; Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, Japan. 5. Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan. 6. Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan. 7. Suzuki Eye Clinic, Shiogama, Japan. 8. Department of Ophthalmology, Yamagata University School of Medicine, Yamagata, Japan. 9. Yuko Wada Eye Clinic, Sendai, Japan. 10. Department of Ophthalmology, Juntendo University Faculty of Medicine, Tokyo, Japan. 11. Department of Ophthalmology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. 12. Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan; Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan; Department of Ophthalmic Imaging and Information Analytics, Tohoku University Graduate School of Medicine, Sendai, Japan; Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, Japan. 13. Division of Clinical Cell Therapy, Center for Translational and Advanced Animal Research, Tohoku University Graduate School of Medicine, Sendai, Japan.
Abstract
PURPOSE: To present phenotypic features of 22 patients with S-antigen (SAG) mutations. DESIGN: Retrospective cohort study. PARTICIPANTS: Twenty-one Japanese patients from 16 families with a homozygous c.924delA mutation and 1 patient with a homozygous c.636delT mutation in the SAG gene. METHODS: Clinical records on symptoms; best-corrected visual acuity; and Goldmann perimetry, fundus photography, fundus autofluorescence (FAF), OCT, and electroretinography results were reviewed. MAIN OUTCOME MEASURES: Best-corrected visual acuity, Goldmann perimetry results, imaging findings, and electroretinography results. RESULTS: Ten patients had Oguchi disease and 12 had retinitis pigmentosa (RP) with mean follow-up periods of 13.8 and 10.2 years, respectively. Retinitis pigmentosa patients were older (mean age, 56.0 years) than those with Oguchi disease (mean age, 22.1 years; P < 0.001) at the initial visit. Night blindness noted in childhood was the most common initial symptom for both Oguchi disease (80.0%) and RP (91.7%) patients. Best-corrected visual acuity in the logarithm of the minimum angle of resolution (logMAR) was well preserved in Oguchi disease patients (mean, 0.02 logMAR in both eyes) but reduced in most RP patients (mean, 1.32 logMAR [right eye] and 1.35 logMAR [left eye]). Similarly, the visual field in the retinal area was preserved in Oguchi disease patients (mean, 677 mm2 right eye and 667 mm2 left eye) and reduced in RP patients (mean, 369 mm2 right eye and 294 mm2 left eye). Fundus images revealed a characteristic golden sheen with no retinal degeneration in Oguchi disease patients, excluding 2 with macular degeneration detected by FAF, OCT, or both and 1 with mild retinal degeneration confirmed by OCT and fluorescein angiography. Pigmentary retinal degeneration most evident posteriorly was observed in RP patients, accompanied by a characteristic golden sheen in 12 of 14 patients undergoing ultra-widefield fundus imaging. OCT showed disrupted macular structure, and FAF revealed variable hypofluorescence. Electroretinography identified absent rod responses in both diseases, along with relative preservation of cone responses in Oguchi disease patients. Three patients showed progressive loss of the golden sheen based on fundus images, including 1 who demonstrated RP 26 years after the initial diagnosis of Oguchi disease. CONCLUSIONS: Retinitis pigmentosa with SAG mutations often shows a characteristic golden sheen surrounding posterior pigmentary retinal degeneration. Oguchi disease can show progressive degeneration in adulthood, rarely resulting in RP.
PURPOSE: To present phenotypic features of 22 patients with S-antigen (SAG) mutations. DESIGN: Retrospective cohort study. PARTICIPANTS: Twenty-one Japanese patients from 16 families with a homozygous c.924delA mutation and 1 patient with a homozygous c.636delT mutation in the SAG gene. METHODS: Clinical records on symptoms; best-corrected visual acuity; and Goldmann perimetry, fundus photography, fundus autofluorescence (FAF), OCT, and electroretinography results were reviewed. MAIN OUTCOME MEASURES: Best-corrected visual acuity, Goldmann perimetry results, imaging findings, and electroretinography results. RESULTS: Ten patients had Oguchi disease and 12 had retinitis pigmentosa (RP) with mean follow-up periods of 13.8 and 10.2 years, respectively. Retinitis pigmentosapatients were older (mean age, 56.0 years) than those with Oguchi disease (mean age, 22.1 years; P < 0.001) at the initial visit. Night blindness noted in childhood was the most common initial symptom for both Oguchi disease (80.0%) and RP (91.7%) patients. Best-corrected visual acuity in the logarithm of the minimum angle of resolution (logMAR) was well preserved in Oguchi diseasepatients (mean, 0.02 logMAR in both eyes) but reduced in most RP patients (mean, 1.32 logMAR [right eye] and 1.35 logMAR [left eye]). Similarly, the visual field in the retinal area was preserved in Oguchi diseasepatients (mean, 677 mm2 right eye and 667 mm2 left eye) and reduced in RP patients (mean, 369 mm2 right eye and 294 mm2 left eye). Fundus images revealed a characteristic golden sheen with no retinal degeneration in Oguchi diseasepatients, excluding 2 with macular degeneration detected by FAF, OCT, or both and 1 with mild retinal degeneration confirmed by OCT and fluorescein angiography. Pigmentary retinal degeneration most evident posteriorly was observed in RP patients, accompanied by a characteristic golden sheen in 12 of 14 patients undergoing ultra-widefield fundus imaging. OCT showed disrupted macular structure, and FAF revealed variable hypofluorescence. Electroretinography identified absent rod responses in both diseases, along with relative preservation of cone responses in Oguchi diseasepatients. Three patients showed progressive loss of the golden sheen based on fundus images, including 1 who demonstrated RP 26 years after the initial diagnosis of Oguchi disease. CONCLUSIONS:Retinitis pigmentosa with SAG mutations often shows a characteristic golden sheen surrounding posterior pigmentary retinal degeneration. Oguchi disease can show progressive degeneration in adulthood, rarely resulting in RP.
Authors: James A Poulter; Molly S C Gravett; Rachel L Taylor; Kaoru Fujinami; Julie De Zaeytijd; James Bellingham; Atta Ur Rehman; Takaaki Hayashi; Mineo Kondo; Abdur Rehman; Muhammad Ansar; Dan Donnelly; Carmel Toomes; Manir Ali; Elfride De Baere; Bart P Leroy; Nigel P Davies; Robert H Henderson; Andrew R Webster; Carlo Rivolta; Christina Zeitz; Omar A Mahroo; Gavin Arno; Graeme C M Black; Martin McKibbin; Sarah A Harris; Kamron N Khan; Chris F Inglehearn Journal: Hum Mutat Date: 2020-11-30 Impact factor: 4.700