Phenotype Variations Caused by Mutations in theRP1L1Gene in a Large Mainly German Cohort | Zendy

Ditta Zobor | Zendy; Gergely Zobor | Zendy; Stephanie Hipp | Zendy; Britta Baumann | Zendy; Nicole Weisschuh | Zendy; Saskia Biskup | Zendy; Ieva Sliesoraitytė | Zendy; Eberhart Zrenner | Zendy; Susanne Kohl | Zendy

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Phenotype Variations Caused by Mutations in theRP1L1Gene in a Large Mainly German Cohort

Author(s) -

Ditta Zobor,

Gergely Zobor,

Stephanie Hipp,

Britta Baumann,

Nicole Weisschuh,

Saskia Biskup,

Ieva Sliesoraitytė,

Eberhart Zrenner,

Susanne Kohl

Publication year - 2018

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.18-24033

Subject(s) - retinitis pigmentosa , erg , genetics , compound heterozygosity , mutation , phenotype , retinal degeneration , electroretinography , medicine , dystrophy , ophthalmology , fundus (uterus) , biology , retinal , gene

Mutations in the retinitis pigmentosa-1-like-1 (RP1L1) gene are the major cause of autosomal dominant occult macular dystrophy (OCMD), while recessive mutations have been linked to autosomal recessive retinitis pigmentosa (arRP). We present the clinical phenotype of a large German OCMD cohort, as well as four RP patients.

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