Natsuko Nakamura1,2, Kazushige Tsunoda1, Yoshinobu Mizuno3, Tomoaki Usui4, Tetsuhisa Hatase5, Shinji Ueno6, Kazuki Kuniyoshi7, Takaaki Hayashi8, Satoshi Katagiri8, Mineo Kondo9, Shuhei Kameya10, Kazutoshi Yoshitake11, Kaoru Fujinami1,12,13, Takeshi Iwata11, Yozo Miyake1,14. 1. Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. 2. Department of Ophthalmology, The University of Tokyo, Tokyo, Japan. 3. Department of Ophthalmology, Teikyo University, Tokyo, Japan. 4. Akiba Eye Clinic, Niigata, Japan. 5. Division of Ophthalmology and Visual Science, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan. 6. Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. 7. Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka-Sayama, Osaka, Japan. 8. Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan. 9. Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Mie, Japan. 10. Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Inzai, Chiba, Japan. 11. Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. 12. University College London Institute of Ophthalmology, London, United Kingdom. 13. Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan. 14. Kobe Eye Center, Hyogo, Japan.
Abstract
Purpose: To determine the course of occult macular dystrophy (OMD, Miyake's disease) and to propose stages of OMD based on the optical coherence tomographic (OCT) findings. Methods: Sixty-one patients from 33 families with OMD who carried one of the proven variants of the RP1L1 gene were studied at seven centers in Japan. Ophthalmological examinations including the best-corrected visual acuity (BVCA) and OCT were performed. Results: The median age at the last visit was 50 years with a range of 10 to 88 years, and the median age at the symptom onset was 30 years with a range of 3 to 60 years. There were significant negative correlations between the duration of OMD and BCVA, the central retinal thickness (CRT) and the thickness between external limiting membrane and retinal pigment epithelium (ERT). The BCVA gradually decreased for 10 years after symptom onset and was stable thereafter. Kaplan-Meier survival curves of the BCVA and retinal thickness showed that all of the patients had retained a vision of 1.0 logMAR, and over 80% of the patients had retained 50% thickness of the normal CRT and ERT for at least 60 years after symptom onset. The stages of OMD based on the visual symptoms and OCT findings are proposed. Conclusions: The photoreceptors do not become completely atrophic even at the late stage, which may account for the good retinal pigment epithelium (RPE) structure and normal-appearing fundus. The proposed stages facilitate the investigation of the pathogenicity of OMD and provide information to determine the effectiveness of therapeutic procedures.
Purpose: To determine the course of occult macular dystrophy (OMD, Miyake's disease) and to propose stages of OMD based on the optical coherence tomographic (OCT) findings. Methods: Sixty-one patients from 33 families with OMD who carried one of the proven variants of the RP1L1 gene were studied at seven centers in Japan. Ophthalmological examinations including the best-corrected visual acuity (BVCA) and OCT were performed. Results: The median age at the last visit was 50 years with a range of 10 to 88 years, and the median age at the symptom onset was 30 years with a range of 3 to 60 years. There were significant negative correlations between the duration of OMD and BCVA, the central retinal thickness (CRT) and the thickness between external limiting membrane and retinal pigment epithelium (ERT). The BCVA gradually decreased for 10 years after symptom onset and was stable thereafter. Kaplan-Meier survival curves of the BCVA and retinal thickness showed that all of the patients had retained a vision of 1.0 logMAR, and over 80% of the patients had retained 50% thickness of the normal CRT and ERT for at least 60 years after symptom onset. The stages of OMD based on the visual symptoms and OCT findings are proposed. Conclusions: The photoreceptors do not become completely atrophic even at the late stage, which may account for the good retinal pigment epithelium (RPE) structure and normal-appearing fundus. The proposed stages facilitate the investigation of the pathogenicity of OMD and provide information to determine the effectiveness of therapeutic procedures.
Authors: Olga Zabek; Ioannis Lamprakis; Annekatrin Rickmann; Giacomo Calzetti; Bence György; Hendrik P N Scholl; Maria Della Volpe Waizel Journal: Am J Ophthalmol Case Rep Date: 2022-04-10
Authors: Lorenzo Bianco; Alessandro Arrigo; Alessio Antropoli; Paola Carrera; Ivana Spiga; Maria Grazia Patricelli; Francesco Bandello; Maurizio Battaglia Parodi Journal: Am J Ophthalmol Case Rep Date: 2022-04-21