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East Asia Occult Macular Dystrophy (EAOMD) Project

Occult macular dystrophy (OMD), first described in Japan by Prof Yozo Miyake, is a dominantly inherited macular dystrophy characterized by a progressive visual impairment with an essentially normal fundus appearance (Ref 1-3). Macular dysfunction detected by macular electroretinograms (ERGs) is key to diagnosing this disorder (Ref 1-5).

In 2010, linkage analysis and genetic studies of Japanese OMD families identified causative mutations in the Retinitis Pigmentosa 1-like 1 (RP1L1) gene and immunohistochemistry studies in the retina of cynomolgus monkey demonstrated the expression of the RP1L1 protein in rod and cone photoreceptors. (Ref 6) Since this discovery, a number of individuals and families with RP1L1 mutations in East Asia have been reported. (Ref 7,8) A nationwide OMD study in Japan revealed the distinct microstructural phenotype of RP1L1-associated retinopathy (Miyake’s disease) in 2016. (Ref 9)

It is known that OMD represents one of the most prevalent IRDs in the East Asian population, which is quite unique compared to the relatively low prevalence among the European population. However, the characteristics of OMD have not been fully understood in the Asian context.

The objective of the EAOMD is to characterize the clinical and genetic features of OMD in the East Asian population utilizing the standardized diagnostic criteria.


  1. Miyake Y, Ichikawa K, Shiose Y, Kawase Y. Hereditary macular dystrophy without visible fundus abnormality. Am J Ophthalmol. 1989 Sep 15;108(3):292-9.

  2. Miyake Y, Horiguchi M, Tomita N, Kondo M, Tanikawa A, Takahashi H, Suzuki S, Terasaki H. Occult macular dystrophy. Am J Ophthalmol. 1996 Nov;122(5):644-53.

  3. Miyake Y, Tsunoda K. Occult macular dystrophy. Jpn J Ophthalmol. 2015 Mar;59(2):71-80.

  4. Tsunoda K, Usui T, Hatase T, Yamai S, Fujinami K, Hanazono G, Shinoda K, Ohde H, Akahori M, Iwata T, Miyake Y. Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene. Retina. 2012 Jun;32(6):1135-47.

  5. Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y. Fundus autofluorescence in autosomal dominant occult macular dystrophy. Arch Ophthalmol. 2011 May;129(5):597-602.

  6. Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T. Dominant mutations in RP1L1 are responsible for occult macular dystrophy. Am J Hum Genet. 2010 Sep 10;87(3):424-9.

  7. Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ. Clinical and genetic characteristics of Korean occult macular dystrophy patients. Invest Ophthalmol Vis Sci. 2013 Jul 18;54(7):4856-63.

  8. Nakanishi A, Ueno S, Kawano K, Ito Y, Kominami T, Yasuda S, Kondo M, Tsunoda K, Iwata T, Terasaki H. Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7243-9.

  9. Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K. Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4837-4846.

Chair’s office

National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center

2-5-1, Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan

Institution Contacts

Kaoru Fujinami, MD, PhD

Study Chair, Principal Investigator



Takeshi Iwata, PhD

President, Japan/Asian Eye Genetics Consortium


Kazushige Tsunoda, MD, PhD

Principal Investigator, Japan Eye Genetics Consortium


Yozo Miyake, MD, PhD


Lizhu Yang, MD


Gavin Arno, PhD


Yu  Fujinami-Yokokawa,  BsCN​


Xiao Liu, MD


Leading Institutes

Peking Union Medical College Hospital

1#Shuaifuyuan, Dongcheng District, Beijing 100730, China.


Ruifang Sui, MD, PhD

Principal Investigator


Lizhu Yang, MD



Seoul National University Bundang Hospital

173(baekchilsipsam)beo, Bundang-gu, Seongnam-si, Gyeonggi-do, South Korea


Institution Contacts


Se Joon Woo, MD, PhD

Principal Investigator


Kwangsic Joo, MD


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