Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3

• Published in: Investigative ophthalmology & visual science 2022-01, Vol.63 (1), p.12-12
• Main Authors: Ahn, Seong Joon, Yang, Lizhu, Tsunoda, Kazushige, Kondo, Mineo, Fujinami-Yokokawa, Yu, Nakamura, Natsuko, Iwata, Takeshi, Kim, Min Seok, Mun, Yongseok, Park, Jun Young, Joo, Kwangsic, Park, Kyu Hyung, Miyake, Yozo, Sui, Ruifang, Fujinami, Kaoru, Woo, Se Joon
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Electroretinography; Eye Proteins - genetics; Far East; Female; Genotype; Humans; Macular Degeneration - diagnostic imaging; Macular Degeneration - genetics; Macular Degeneration - physiopathology; Male; Middle Aged; Phenotype; Retina; Retrospective Studies; Scotoma - diagnostic imaging; Scotoma - genetics; Scotoma - physiopathology; Tomography, Optical Coherence; Visual Acuity - physiology; Visual Field Tests; Visual Fields - physiology; Young Adult
• ISSN: 1552-5783; 0146-0404; 1552-5783
• DOI: 10.1167/iovs.63.1.12

The purpose of this study was to investigate the perimetric features and their associations with structural and functional features in patients with RP1L1-associated occult macular dystrophy (OMD; i.e. Miyake disease). In this international, multicenter, retrospective cohort study, 76 eyes of 38 patients from an East Asian cohort of patients with RP1L1-associated OMD were recruited. Visual field tests were performed using standard automated perimetry, and the patients were classified into three perimetric groups based on the visual field findings: central scotoma, other scotoma (e.g. paracentral scotoma), and no scotoma. The association of the structural and functional findings with the perimetric findings was evaluated. Fifty-four eyes (71.1%) showed central scotoma, 14 (18.4%) had other scotomata, and 8 (10.5%) had no scotoma. Central scotoma was mostly noted in both eyes (96.3%) and within the central 10 degrees (90.7%). Among the three perimetric groups, there were significant differences in visual symptoms, best-corrected visual acuity (BCVA), and structural phenotypes (i.e. severity of photoreceptor changes). The central scotoma group showed worse BCVA often with severe structural abnormalities (96.3%) and a pathogenic variant of p.R45W (72.2%). The multifocal electroretinogram (mfERG) groups largely corresponded with the perimetric groups; however, 8 (10.5%) of 76 eyes showed mfERG abnormalities preceding typical central scotoma. The patterns of scotoma with different clinical severity were first identified in occult macular dystrophy, and central scotoma, a severe pattern, was most frequently observed. These perimetric patterns were associated with the severity of BCVA, structural phenotypes, genotype, and objective functional characteristics which may precede in some cases.