Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation [11]

British Journal of Ophthalmology

Volumn 91, Issue 5, 2007, Pages 699-701

  Jacobson, Samuel G ^a   Sumaroka, Alexander ^a   Aleman, Tomas S ^a   Cideciyan, Artur V ^a   Danciger, Michael ^b   Farber, Debora B ^c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b LOYOLA MARYMOUNT UNIVERSITY   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP PHOSPHODIESTERASE; PHOSPHODIESTERASE; PHOSPHODIESTERASE 6B; UNCLASSIFIED DRUG;

ADULT; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; LETTER; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; VISUAL ACUITY; VISUAL FIELD;

ADULT; FEMALE; HOMOZYGOTE; HUMANS; MUTATION; PHOSPHORIC DIESTER HYDROLASES; RETINITIS PIGMENTOSA;

EID: 34248159371     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2006.104463     Document Type: Letter

References (10)

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2. Bowes C, Li T, Danciger M, et al. Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphoaiesterase. Nature 1990;347:677-80.
3. Farber DB, Danciger JS, Aguirre G. The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1. Neuron 1992;9:349-56.
4. Pang J, Cheng M, Stevenson D, et al. Adenoviral-mediated gene transfer to retinal explants during development and degeneration. Exp Eye Res 2004;79:189-201.
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8. Jacobson SG, Cideciyan AV, Aleman TS, et al. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet 2003;12:1073-8.
9. Jacobson SG, Sumaroka A, Aleman TS, et al. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual retinal degeneration. Hum Mol Genet 2004;13:1893-902.
10. Marc RE, Jones BW, Watt CB, et al. Neural remodelling in retinal degeneration. Prog Retin Eye Res 2003;22:607-55.