Expanded clinical spectrum of enhanced S-cone syndrome

JAMA Ophthalmology

Volumn 131, Issue 10, 2013, Pages 1324-1330

  Yzer, Suzanne ^a,b   Barbazetto, Irene ^c   Allikmets, Rando ^a,d   Van Schooneveld, Mary J ^e   Bergen, Arthur ^e   Tsang, Stephen H ^a,d   Jacobson, Samuel G ^f   Yannuzzi, Lawrence A ^c,g  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b ROTTERDAM EYE HOSPITAL   (Netherlands)

^c VITREOUS RETINA MACULA CONSULTANTS OF NEW YORK   (United States)

^d NewYork Presbyterian Hospital   (United States)

^e NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN NR2E3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE STUDY; CHILD; CLINICAL ARTICLE; CLINICAL OBSERVATION; ENHANCED S CONE SYNDROME; FEMALE; GENE MUTATION; HOMOZYGOTE; HUMAN; HYPERPIGMENTATION; MALE; NIGHT BLINDNESS; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PIGMENT EPITHELIUM; PLEIOTROPY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA DYSTROPHY; RETINA MACULOPATHY; RETROSPECTIVE STUDY; SCHOOL CHILD; VISION; VISUAL ACUITY;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FEMALE; FIBROSIS; FLUORESCEIN ANGIOGRAPHY; HUMANS; MALE; MIDDLE AGED; ORPHAN NUCLEAR RECEPTORS; PHOTIC STIMULATION; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; RETINAL PIGMENT EPITHELIUM; RETROSPECTIVE STUDIES; TOMOGRAPHY, OPTICAL COHERENCE; VISION DISORDERS; VISUAL ACUITY; YOUNG ADULT;

EID: 84885941886     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.4349     Document Type: Article

References (32)

1. Jacobson SG, Marmor MF, Kemp CM, Knighton RW. SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci. 1990;31(5):827-838. (Pubitemid 20186094)
2. Marmor MF, Jacobson SG, Foerster MH, Kellner U, Weleber RG. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol. 1990;110(2):124-134. (Pubitemid 20242333)
3. Jacobson SG, Román AJ, Román MI, Gass JD, Parker JA. Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol. 1991;111(4):446-453.
4. Curcio CA, Sloan KR, Kalina RE, Hendrickson AE. Human photoreceptor topography. J Comp Neurol. 1990;292(4):497-523. (Pubitemid 20076633)
5. 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 USA. 2002;99(1):473-478. (Pubitemid 34060385)
6. Bonilha VL, Fishman GA, Rayborn ME, Hollyfield JG. Retinal pathology of a patient with Goldmann-Favre syndrome. Ophthalmic Genet. 2009;30(4):172-180.
7. Hood DC, Cideciyan AV, Roman AJ, Jacobson SG. Enhanced S cone syndrome: evidence for an abnormally large number of S cones. Vision Res. 1995;35(10):1473-1481.
8. Greenstein VC, Zaidi Q, Hood DC, Spehar B, Cideciyan AV, Jacobson SG. The enhanced S cone syndrome: an analysis of receptoral and post-receptoral changes. Vision Res. 1996;36(22):3711-3722. (Pubitemid 26390606)
9. Fishman GA, Jampol LM, Goldberg MF. Diagnostic features of the Favre-Goldmann syndrome. Br J Ophthalmol. 1976;60(5):345-353.
10. Román AJ, Jacobson SG. S cone-driven but not S cone-type electroretinograms in the enhanced S cone syndrome. Exp Eye Res. 1991;53(5):685-690.
11. Mollema N, Haider NB. Focus on molecules: nuclear hormone receptor Nr2e3: impact on retinal development and disease. Exp Eye Res. 2010;91(2):116-117.
12. Haider NB, Mollema N, Gaule M, et al. Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction. Exp Eye Res. 2009;89(3):365-372.
13. Khan AO, Aldahmesh MA, Al-Harthi E, Alkuraya FS. Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X. Arch Ophthalmol. 2010;128(3):344-348.
14. Pachydaki SI, Klaver CC, Barbazetto IA, et al. Phenotypic features of patients with NR2E3 mutations. Arch Ophthalmol. 2009;127(1):71-75.
15. 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. (Pubitemid 30094711)
16. 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.
17. Spaide RF, Curcio CA. Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model. Retina. 2011;31(8):1609-1619.
18. Zweifel SA, Engelbert M, Laud K, Margolis R, Spaide RF, Freund KB. Outer retinal tubulation: a novel optical coherence tomography finding. Arch Ophthalmol. 2009;127(12):1596-1602.
19. Shields CL, Guzman JM, Shapiro MJ, Fogel LE, Shields JA. Torpedo maculopathy at the site of the fetal "bulge". Arch Ophthalmol. 2010;128(4): 499-501.
20. Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ. Torpedo maculopathy. Br J Ophthalmol. 2010;94(3):302-306.
21. Cassiman C, Spileers W, De Baere E, de Ravel T, Casteels I. Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations. Ophthalmic Genet. 2013;34(1-2):105-108.
22. Nakamura M, Hotta Y, Piao CH, Kondo M, Terasaki H, Miyake Y. Enhanced S-cone syndrome with subfoveal neovascularization. Am J Ophthalmol. 2002;133(4):575-577. (Pubitemid 34258077)
23. Lam BL, Goldberg JL, Hartley KL, Stone EM, Liu M. Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. Am J Ophthalmol. 2007;144(1):157-159. (Pubitemid 46963179)
24. Jacobson SG, Sumaroka A, Aleman TS, et al. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet. 2004;13(17):1893-1902. (Pubitemid 39214337)
25. 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. (Pubitemid 40110772)
26. Mustafi D, Kevany BM, Genoud C, et al. Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. FASEB J. 2011;25(9):3157-3176.
27. To KW, Adamian M, Jakobiec FA, Berson EL. Clinical and histopathologic findings in clumped pigmentary retinal degeneration. Arch Ophthalmol. 1996;114(8):950-955. (Pubitemid 26271460)
28. 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. (Pubitemid 37128411)
29. Mears AJ, Kondo M, Swain PK, et al. Nrl is required for rod photoreceptor development. Nat Genet. 2001;29(4):447-452. (Pubitemid 34326696)
30. Chen J, Nathans J. Genetic ablation of cone photoreceptors eliminates retinal folds in the retinal degeneration 7 (rd7) mouse. Invest Ophthalmol Vis Sci. 2007;48(6):2799-2805. (Pubitemid 351261236)
31. 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.
32. Audo I, Michaelides M, Robson AG, et al. Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci. 2008;49(5):2082-2093.