A novel RPGR mutation masquerading as Stargardt disease

British Journal of Ophthalmology

Volumn 98, Issue 5, 2014, Pages 709-711

  Bassuk, Alexander G ^a   Sujirakul, Tharikarn ^b   Tsang, Stephen H ^b   Mahajan, Vinit B ^a  

^a UNIVERSITY OF IOWA   (United States)

^b Bernard and Shirlee Brown Glaucoma Laboratory Departments of Ophthalmology Pathology and Cell Biology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENETICS; RETINA; TREATMENT OTHER;

ADULT; DIAGNOSIS, DIFFERENTIAL; EYE PROTEINS; FAMILY HEALTH; FEMALE; HUMANS; MACULAR DEGENERATION; MALE; PEDIGREE; RETINAL DYSTROPHIES;

EID: 84898816814     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2013-304822     Document Type: Letter

References (6)

1. Laboratory for the Molecular Diagnosis of Inherited Eye Diseases, The University of Texas - HoustonHealth Science Center, Daiger SP. RetNet: Summaries of Genes and Loci Causing Retinal Diseases. Secondary RetNet: Summaries of Genes and Loci Causing Retinal Diseases. https://sph.uth.edu/retnet/ sum-dis.htm (accessed Aug 2013).
2. Audo I, Bujakowska KM, Leveillard T, et al. Development and application of a next-generationsequencing (NGS) approach to detect known andnovel gene defects underlying retinal diseases. Orphanet J Rare Dis 2012;7:8. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352121/ (accessed Dec 2013)
3. Acton JH, Greenberg JP, Greenstein VC, et al. Evaluation of multimodal imaging in carriers ofX-linked retinitis pigmentosa. Exp Eye Res 2013;113:41-8.
4. Pyo Park S, Hwan Hong I, Tsang SH, et al. Cellular imaging demonstrates genetic mosaicism inheterozygous carriers of an X-linked ciliopathy gene. Eur J Hum Genet 2013;21:1240-8.
5. Zernant J, Schubert C, Im KM, et al. Analysis of the ABCA4 gene by next-generation sequencing. Invest Ophthalmol Vis Sci 2011;52:8479-87.
6. Branham K, Othman M, Brumm M, et al. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci 2012;53:8232-7.