Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6

Retinal Cases and Brief Reports

Volumn 5, Issue 1, 2011, Pages 56-61

  Kim, Ben J ^a   Ibrahim, Mohamed A ^a   Goldberg, Morton F ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84863011185     PISSN: 19351089     EISSN: 19371578     Source Type: Journal    
DOI: 10.1097/ICB.0b013e3181cd1d8b     Document Type: Article

References (10)

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3. Querques G, Carrillo P, Querques L, Bux AV, Del Curatolo MV, Delle Noci N. High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. Arch Ophthalmol 2009;127:703-706.
4. Lima LH, CellaW, Greenstein VC, et al. Structural assessment of hyperautofiuorescent ring in patients with retinitis pigmentosa. Retina 2009;29:1025-1031.
5. Wilkie SE, Newbold RJ, Deery E, et al. Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. Hum Mol Genet 2000;9:3065-3073. (Pubitemid 32000780)
6. Weigell-Weber M, Fokstuen S, Torok B, Niemeyer G, Schinzel A, Hergersberg M. Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? Arch Ophthalmol 2000;118:300. (Pubitemid 30086229)
7. Gregory-Evans K, Kelsell RE, Gregory-Evans CY, et al. Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. Ophthalmology 2000;107: 55-61. (Pubitemid 30210182)
8. Downes SM, Payne AM, Kelsell RE, et al. Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. Arch Ophthalmol 2001;119:1667-1673. (Pubitemid 33035709)
9. Gregory-Evans K, Fariss RN, Possin DE, Gregory-Evans CY, Milam AH. Abnormal cone synapses in human cone-rod dystrophy. Ophthalmology 1998;105:2306-2312. (Pubitemid 30191676)
10. To K, Adamian M, Jakobiec FA, Berson EL. Histopathologic and immunohistochemical study of dominant cone degeneration. Am J Ophthalmol 1998;126:140-142. (Pubitemid 28341234)