Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene

Archives of Ophthalmology

Volumn 129, Issue 7, 2011, Pages 954-956

  Mukhopadhyay, Rajarshi ^a   Holder, Graham E ^a   Moore, Anthony T ^a   Webster, Andrew R ^a  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; ELECTROOCULOGRAM; EYE EXAMINATION; FEMALE; FLUORESCENCE; GENE; GENE MUTATION; HUMAN; LETTER; OPHTHALMOSCOPY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RETINITIS PIGMENTOSA 1 GENE; SUBCAPSULAR CATARACT;

BASE SEQUENCE; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FUNCTIONAL LATERALITY; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL FIELDS;

EID: 79960184355     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2011.171     Document Type: Letter

References (5)

1. Farrell DF. Unilateral retinitis pigmentosa and cone-rod dystrophy. Clin Ophthalmol. 2009;3:263-270.
2. Joseph R. Unilateral retinitis pigmentosa. Br J Ophthalmol. 1951;35(2):98-113.
3. Kolb H, Galloway NR. Three cases of unilateral pigmentary degeneration. Br J Ophthalmol. 1964;48:471-479.
4. Bowne SJ, Daiger SP, Hims MM, et al. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1999;8(11):2121-2128. (Pubitemid 29458741)
5. Liu Q, Lyubarsky A, Skalet JH, Pugh EN Jr, Pierce EA. RP1 is required for the correct stacking of outer segment discs. Invest Ophthalmol Vis Sci. 2003;44(10):4171-4183. (Pubitemid 37186248)