Childhood retinal dystrophies: What's in a name

British Journal of Ophthalmology

Volumn 97, Issue 3, 2013, Pages 247-

  Traboulsi, Elias I ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACCOMMODATION PARALYSIS; AUTOFLUORESCENCE; CABP4 GENE; CHILDHOOD DISEASE; CLINICAL FEATURE; COLOR BLINDNESS; EDITORIAL; ELECTRORETINOGRAPHY; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; LEBER CONGENITAL AMAUROSIS; MOLECULAR PATHOLOGY; MUTATOR GENE; NIGHT BLINDNESS; NYSTAGMUS; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; RETINA DYSTROPHY; STARGARDT DISEASE; SYNDROME DELINEATION;

DNA; EYE DISEASES, HEREDITARY; FEMALE; GA-BINDING PROTEIN TRANSCRIPTION FACTOR; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MUTATION; MYOPIA; NIGHT BLINDNESS; RETINAL CONE PHOTORECEPTOR CELLS;

EID: 84874661243     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2012-302703     Document Type: Editorial

References (5)

1. Khan AO, Alrashed M, Alkuraya FS. Clinical characterization of the CABP4-related phenotype. Br J Ophthalmol 2013;97:262-5.
2. Zeitz C, Kloeckener-Gruissem B, Forster U, et al. Mutations in CABP4, the gene encoding the Ca2 +-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet 2006;79:657-67.
3. Maeda T, Lem J, Palczewski K, et al. A critical role of CaBP4 in the cone synapse. Invest Ophthalmol Vis Sci 2005;46:4320-7.
4. Aldahmesh MA, Al-Owain M, Alqahtani F, et al. A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis 2010;16:207-12.
5. Littink KW, van Genderen MM, Collin RW, et al. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci 2009;50:2344-50.