Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene

Eye

Volumn 25, Issue 8, 2011, Pages 1098-1101

  Sergouniotis, P I ^a,b   Davidson, A E ^a   Sehmi, K ^b   Webster, A R ^a,b   Robson, A G ^a,b   Moore, A T ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ARRESTIN; RHODOPSIN;

AUTOFLUORESCENCE IMAGING; BRUCH MEMBRANE; CASE REPORT; CHILD; CONTROLLED STUDY; DARK ADAPTATION; ELECTRORETINOGRAM; FEMALE; GENE; HUMAN; LETTER; NIGHT BLINDNESS; NONSENSE MUTATION; OGUCHI DISEASE; OPHTHALMOSCOPY; PHOTORECEPTOR INNER SEGMENT; PHOTORECEPTOR OUTER SEGMENT; PHOTOTRANSDUCTION; RETINA CONE; SAG GENE; SCHOOL CHILD; SOUTH ASIA; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY;

EID: 80051741669     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2011.88     Document Type: Letter

References (7)

1. Dryja TP. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. Am J Ophthalmol 2000; 130: 547-563
2. Maw M, Kumaramanickavel G, Kar B, John S, Bridges R, Denton M. Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. Hum Mutat 1998; (Suppl 1): S317-S319
3. Hashimoto H, Kishi S. Shortening of the rod outer segment in Oguchi disease. Graefes Arch Clin Exp Ophthalmol 2009; 24: 1561-1563
4. Takada M, Otani A, Ogino K, Yoshimura N. Spectral-domain optical coherence tomography findings in the Mizuo-Nakamura phenomenon of Oguchi disease. Retina 2011; 31: 626-628
5. Robson AG, Mengher LS, Tan MH, Moore AT. An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis. Eye (Lond) 2009; 23: 1876-1878
6. Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA et al. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature 2004; 427: 75-78 (Pubitemid 38094824)
7. McBain VA, Egan CA, Pieris SJ, Supramaniam G, Webster AR, Bird AC et al. Functional observations in vitamin A deficiency: diagnosis and time course of recovery. Eye (Lond) 2007; 21: 367-376 (Pubitemid 46358800)