Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss | Zendy

Akhila Alapati | Zendy; Kerry Goetz | Zendy; John Suk | Zendy; Mili Navani | Zendy; Amani Al-Tarouti | Zendy; Thiran Jayasundera | Zendy; Santa J. Tumminia | Zendy; Pauline Lee | Zendy; Radha Ayyagari | Zendy

Open Access

Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss

Author(s) -

Akhila Alapati,

Kerry Goetz,

John Suk,

Mili Navani,

Amani Al-Tarouti,

Thiran Jayasundera,

Santa J. Tumminia,

Pauline Lee,

Radha Ayyagari

Publication year - 2014

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.14-14359

Subject(s) - abca4 , macular dystrophy , proband , medicine , retinitis pigmentosa , dystrophy , compound heterozygosity , genetic testing , maculopathy , genetic heterogeneity , rpe65 , genetics , mutation , ophthalmology , gastroenterology , phenotype , pathology , retinal , biology , retinopathy , endocrinology , retinal pigment epithelium , gene , diabetes mellitus

To analyze the genetic test results of probands referred to eyeGENE with a diagnosis of hereditary maculopathy.

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