Associated Papers
A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.
Hiraoka M et al.
Ophthalmic Genetics, 2020
Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.
Wang DD et al.
Investigative Ophthalmology & Visual Science, 2020
32176261 (PubMed )
Supplement: iovs-61-3-10_s002.xlsx › Sheet_1
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.
Fujinami K et al.
Ophthalmology, 2019
Dominant cystoid macular dystrophy associated with mutations in the RP1L1 gene.
Fu Y et al.
International Journal of Ophthalmology, 2019
Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.
Qi YH et al.
Frontiers in Genetics, 2017
Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.
Piermarocchi S et al.
Molecular Medicine Reports, 2016
Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy.
Ziccardi L et al.
American Journal of Ophthalmology, 2015
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).
Takahashi H et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene.
Okuno T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2013
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Davidson AE et al.
Human Mutation, 2013
Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
Hayashi T et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2012
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Akahori M et al.
American Journal of Human Genetics, 2010
[Case of unilateral impairment of short-wavelength sensitive cone with sudden onset].
Okuno T et al.
Nippon Ganka Gakkai Zasshi, 2010
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