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Kwangsic Joo, Lizhu Yang, Kazushige Tsunoda, Mineo Kondo, Yu Fujinami, Gavin Arno, Toshihide Kurihara, Kazuo Tsubota, Takeshi Iwata, Xuan Zou, Hui Li, Yozo Miyake, Kyu Hyung Park, Kaoru Fujinami, Ruifang Sui, Se Joon Woo; Multimodal imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease): EAOMD Report No. 3. Invest. Ophthalmol. Vis. Sci. 2018;59(9):1430.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the retinal morphological characteristics of occult macular dystrophy (OMD) using multimodal imaging.
Thirty-six patients (72 eyes) from 21 families with clinical manifestations of OMD and identifying pathogenic RP1L1 variants were enrolled from 3 centers in South Korea, Japan and China. RP1L1 variants were detected by direct sequencing, targeted panel sequencing and whole exome sequencing. We evaluated detailed retinal morphologic abnormalities by spectral-domain optical coherence tomography (OCT), fundus fluorescein angiography (FA), fundus infrared (IR) reflectance and autofluorescence (AF), and analyzed their correlation with genotypes and visual acuity (VA).
Total eight missense variants were included, namely, p.R45W, p.T1194M/p.T1196I (complex), p.S1198F, p.S1199C, p.G1200A, p.G1200D, and p.V1201G. Thirty patients (30/36, 83.3%) showed classical OCT findings that are blurred ellipsoid zone (EZ) and absence of interdigitation zone (IZ) of photoreceptors regardless of genotypes. Among them, four eyes of two elderly patients (p.Gly1200Asp and p.Ser1199Cys) accompanied distinctive subfoveal cavitation on OCT with localized mild pooling of fluorescein dye on FA and hyper-AF. Subtle disturbance of photoreceptors without classical OCT findings was observed in 6 patients (6/36, 16.6%). Most patients (28/34, 82.4%) showed normal AF except 5 patients (5/34, 14.7%) showing central hyper-AF. Half of the patients (16/32, 50%) showed low macular reflectance on IR images. Low macular reflectance on IR was correlated with classical phenotype on OCT (Chi-squared test, p = 0.0013). The diverse features on multimodal imaging were not associated with genotypes. Subtle disturbance of photoreceptors on OCT was directly associated with good visual acuity compared to classical OCT findings (independent samples t-test, p = 0.000034).
Diverse retinal morphological abnormalities of OMD were documented using multimodal imaging analysis and they were not associated with RP1L1 genotypes. Atypical morphologic features in OMD patients suggest a spectrum of OMD phenotypes and temporal changes. A long-term follow-up study on morphologic features of OMD patients is needed.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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