Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X

Archives of Ophthalmology

Volumn 128, Issue 3, 2010, Pages 344-348

  Khan, Arif O ^a,b   Aldahmesh, Mohammed A ^b   Al Harthi, Essam ^a   Alkuraya, Fowzan S ^a,b,c  

^a ALFAISAL UNIVERSITY   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CONVERGENT STRABISMUS; EYE EXAMINATION; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HELICOID SUBRETINA FIBROSIS; HOMOZYGOSITY; HUMAN; NR2E3 GENE; OCULAR FIBROSIS; PEDIGREE; PHENOTYPE; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULA LUTEA; RETINOSCHISIS; SCHOOL CHILD; VISUAL ACUITY;

ADULT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; ESOTROPIA; EYE PROTEINS; FEMALE; FIBROSIS; FLUORESCEIN ANGIOGRAPHY; GENES, RECESSIVE; GENETIC TESTING; HUMANS; MUTATION; ORPHAN NUCLEAR RECEPTORS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINA; RETINAL PIGMENT EPITHELIUM; RETINOSCHISIS; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 77749307455     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2010.15     Document Type: Article

References (25)

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(2):127-131.
2. Milam AH, Rose L, Cideciyan AV, et al. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A. 2002;99(1):473-478.
3. Kobayashi M, Takezawa S, Hara K, et al. Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci U S A. 1999;96(9):4814-4819.
4. Khan AO, Aldahmesh M, Meyer B. The enhanced S-cone syndrome in children. Br J Ophthalmol. 2007;91(3):394-396.
5. Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003;121(9):1316-1323.
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(5):439.
7. Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. Ophthalmology. 2005;112(12):2115.
8. Chavala SH, Sari A, Lewis H, et al. An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. Br J Ophthalmol. 2005;89(8):1065-1066.
9. Gerber S, Rozet JM, Takezawa SI, et al. The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the crypto-Jews from Portugal (Marranos), survivors from the Spanish inquisition. Hum Genet. 2000;107(3):276-284.
10. Coppieters F, Leroy BP, Beysen D, et al. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet. 2007;81(1):147-157.
11. Audo I, Michaelides M, Robson AG, et al. Phenotypic variation in enhanced Scone syndrome. Invest Ophthalmol Vis Sci. 2008;49(5):2082-2093.
12. Pachydaki SI, Klaver CC, Barbazetto IA, et al. Phenotypic features of patients with NR2E3 mutations. Arch Ophthalmol. 2009;127(1):71-75.
13. Bandah D, Merin S, Ashhab M, Banin E, Sharon D. The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. Arch Ophthalmol. 2009;127(3):297-302.
14. Escher P, Gouras P, Roduit R, et al. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. Hum Mutat. 2009;30(3):342-351.
15. Bernal S, Solans T, Gamundi MJ, et al. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. Clin Genet. 2008;73(4):360-366.
16. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M; International Society for Clinical Electrophysiology of Vision. ISCEV standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118(1):69-77.
17. Schorderet DF, Escher P. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat. 2009;30(11):1475-1485.
18. Brown J Jr, Folk JC. Current controversies in the white dot syndromes: multifocal choroiditis, punctate inner choroidopathy, and the diffuse subretinal fibrosis syndrome. Ocul Immunol Inflamm. 1998;6(2):125-127.
19. Cantrill HL, Folk JC. Multifocal choroiditis associated with progressive subretinal fibrosis. Am J Ophthalmol. 1986;101(2):170-180.
20. Cimino L, Mantovani A, Herbort CP. Primary inflammatory choriocapillaropathies. In: Pleyer U, Mondino B, eds. Essentials in Ophthalmology: Uveitis and Immunological Disorders. Berlin, Germany: Springer Verlag; 2005:209-231.
21. Jampol LM, Orth D, Daily MJ, Rabb MF. Subretinal neovascularization with geographic (serpiginous) choroiditis. Am J Ophthalmol. 1979;88(4):683-689.
22. Haider NB, Demarco P, Nystuen AM, et al. The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Vis Neurosci. 2006;23(6):917-929.
23. Chen J, Rattner A, Nathans J. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. J Neurosci. 2005;25(1):118-129.
24. Léveillard T, Mohand-Said S, Lorentz O, et al. Identification and characterization of rod-derived cone viability factor. Nat Genet. 2004;36(7):755-759.
25. Wang NK, Fine HF, Chang S, et al. Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene. Br J Ophthalmol. 2009;93(9):1234-1240.