Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene

European Journal of Ophthalmology

Volumn 17, Issue 6, 2007, Pages 1000-1003

  Passerini, Ilaria ^a   Sodi, A ^b   Giambene, B ^b   Menchini, U ^b   Torricelli, F ^a  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Adult onset vitelliform macular dystrophy; Intrafamilial variability; Peripherin RDS gene; Retinitis pigmentosa

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; ELECTRORETINOGRAPHY; EXON; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; NIGHT BLINDNESS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; VISUAL ACUITY; VISUAL FIELD;

EID: 39349095474     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067210701700624     Document Type: Article

References (5)

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2. Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Ophthalmology 2005; 12: 1592-8.
3. Leroy BP, Kailasanathan A, De Laey JJ, Black GCM, Manson FDC. Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa. Br J Ophthalmol 2007; 91: 89-93.
4. Farrar GJ, Kenna P, Jordan SA, et al. Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. Genomics 1992; 14: 805-7.
5. Felbor U, Schilling H, Weber BHF. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat 1997; 10: 301-9.