Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene

Hereditary Macular Dystrophy without Visible Fundus Abnormality

Yozo Miyake, Kazuo Ichikawa, Yoshihiko Shiose et al. · American Journal of Ophthalmology · 1989 · 128 citations

Medicine, Genetics, Ophthalmology +12

Morphologic Photoreceptor Abnormality in Occult Macular Dystrophy on Spectral-Domain Optical Coherence Tomography

Sang Jun Park, Se Joon Woo, Kyu Hyung Park et al. · Investigative Ophthalmology & Visual Science · 2010 · 82 citations · Full text

Medicine, Ophthalmology, Vision Science +17

CLINICAL CHARACTERISTICS OF OCCULT MACULAR DYSTROPHY IN FAMILY WITH MUTATION OF RP1L1 GENE

Kazushige Tsunoda, Tomoaki Usui, Tetsuhisa Hatase et al. · Retina · 2012 · 60 citations

Medicine, Molecular Genetics, Ophthalmology +17

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

Sara J. Bowne, Stephen P. Daiger, Heckenlively et al. · PubMed · 2003 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Autosomal Dominant Occult Macular Dystrophy with an <i>RP1L1</i> Mutation (R45W)

Takaaki Hayashi, Tamaki Gekka, Ken‐ichi Kozaki et al. · Optometry and Vision Science · 2012 · 34 citations

Medicine, Genetics, Ophthalmology +15