The enhanced S-cone syndrome in children [2]

British Journal of Ophthalmology

Volumn 91, Issue 3, 2007, Pages 394-396

  Khan, Arif O ^a   Aldahmesh, Mohammed ^b   Meyer, Brian ^b  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS RECEPTOR; NUCLEAR RECEPTOR 2E3; UNCLASSIFIED DRUG;

CASE REPORT; CLINICAL FEATURE; ENHANCED S CONE SYNDROME; EYE EXAMINATION; FEMALE; HUMAN; LETTER; MALE; MUTATION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DEGENERATION; VISUAL ACUITY; PATHOLOGY; PIGMENT EPITHELIUM; RETINA CONE; SYNDROME;

CHILD, PRESCHOOL; CONES (RETINA); FEMALE; HUMANS; MALE; PIGMENT EPITHELIUM OF EYE; RETINAL DEGENERATION; SYNDROME;

EID: 33947597524     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2006.097956     Document Type: Letter

References (8)

1. Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 2000;24:127-31.
2. Michaelides M, Holder GE, Moore AT. Inherited retinal dystrophies. In: Taylor D, Hoyt GS, eds. Pediatric ophthalmology and strabismus. 2nd edn. New York: Elsevier Saunders, 2005:531-57.
3. Fishman GA. The enhanced S-cone syndrome. In: Fishman GA, Birch DG, Holder GE, Brigell MG, eds. Ophthalmology monograph 2-Electrophysiologic testing in disorders of the retina, optic nerve, and visual pathway. 2nd edn. Singapore: The American Academy of Ophthalmology, 2001:120.
4. Sharon D, Sandberg MA, Caruso RC, et al. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol 2003;121:1316-23.
5. Cepko C. Giving in to the blues. Nat Genet 2000;24:99-100.
6. Wright AF, Reddick AC, Schwartz SB, et al. Mutation analysis of NR2E3 and NRL genes in enhanced S Cone syndrome. Hum Mutat 2004;24:439.
7. Nishiguchi KM, Friedman JS, Sandberg MA, et al. Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci USA 2004;101:17819-24.
8. Haider NB, Naggert JK, Nishina PM. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet 2001;10:1619-26.