The current status of molecular diagnosis of inherited retinal dystrophies

Current Opinion in Ophthalmology

Volumn 26, Issue 5, 2015, Pages 346-351

  Chiang, John Pei Wen ^a   Trzupek, Karmen ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b Informed DNA   (United States)

Author keywords

Genetic testing; Molecular diagnosis; Mutation; Retinal dystrophy; Retinitis pigmentosa

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; UNCLASSIFIED DRUG; ABCA4 PROTEIN, HUMAN;

DISEASE SEVERITY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPING TECHNIQUE; HUMAN; INTRON; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PHENOTYPE; PRIORITY JOURNAL; RETINA DYSTROPHY; REVIEW; CHEMICAL DATABASE; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; RETINAL DYSTROPHIES;

ATP-BINDING CASSETTE TRANSPORTERS; DATABASES, CHEMICAL; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRONS; MUTATION; RETINAL DYSTROPHIES;

EID: 84942508621     PISSN: 10408738     EISSN: 15317021     Source Type: Journal    
DOI: 10.1097/ICU.0000000000000185     Document Type: Review

References (12)

1. van Driel MA, Maugeri A, Klevering BJ, et al. ABCR unites what ophthalmologists divide(s). Ophthalmic Genet 1998; 19:117-122.
2. Maugeri A, van Driel MA, van de Pol DJ, et al. The 2588G!C Mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 1999; 64:1024-1035.
3. Miraldi Utz V, Coussa RG, Marino MJ, et al. Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease. Br J Ophthalmol 2014; 98:513-518.
4. Lambertus S, van Huet RAC, Bax NM, et al. Early-onset Stargardt disease -phenotypic and genotypic characteristics. Ophthalmology 2015; 122:335-344.
5. Sheffield VC, Stone EM. Genomics and the eye. N Engl J Med 2011; 364:1932-1942.
6. Huynh N, Jeffrey BG, Turriff A, et al. Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness. Ophthalmic Genet 2014; 35:51-56.
7. Braun TA, Mullins RF, Wagner AH, et al. Nonexomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum Mol Genet 2013; 22:5136-5145 8.
8. Zernant J, Xie YA, Ayuso C, et al. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet 2014; 23:6797-6806.
9. Bauwens M, De Zaeytijd J, Weisschuh N, et al. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. Hum Mutat 2015; 36:39-42.
10. Bax NM, Sangermano R, Roosing S, et al. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Hum Mutat 2015; 36:43-47.
11. Strom SP, Gorin MB. Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. Mol Vis 2013; 19:980-985.
12. Consugar MB, Navarro-Gomez D, Place EM, et al. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med 2015; 17:253-261.