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Clinical features of retinitis pigmentosa with EYS gene mutationin the Japanese Masaki Iwanami 1 , Tomomi Nishida 1 , Marie Miwa 1 , Akiko Yamada 1 , Yuki Nishiwaki 1 , Mayumi Komatsu 1 , Yuko Seko 2 , Seishi Kato 2 , Satoshi Nakadomari 1 1Dept of Ophthalmol, Hosp, Natl Rehab Cent for Persons with Disabilities(NRCD) 2Dept of Vis Sens Disorder, Res Inst, NRCD pp.275-279
Published Date 2013/3/15
DOI https://doi.org/10.11477/mf.1410104621
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Abstract. Purpose:To report clinical features of retinitis pigmentosa with eyes shut homologEYS)mutation in the Japanese. Cases and Methods:Out of 140 patients with autosomal recessive retinitis pigmentosa, 23 cases were identified with probable EYS mutation by genetic tests. The series comprised 9 males and 14 females. The age averaged 53 years. They were evaluated regarding visual acuity, visual field, age of onset of night blindness, age diagnosed with retinitis pigmentosa, and age of cataract surgery. Results:The majority of patients noticed night blindness during third decade of life. Retinitis pigmentosa was diagnosed at the age averaging 39 years. Thirteen patients had received cataract surgery. The fundus showed typical features of late-onset retinitis pigmentosa. Conclusion:Patients with EYS mutation often manifest typical funduscopic features of retinitis pigmentosa and complicated cataract.


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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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