An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome
2005; BMJ; Volume: 89; Issue: 8 Linguagem: Inglês
10.1136/bjo.2005.068130
ISSN1468-2079
AutoresSai H. Chavala, Alper Sarı, Hilel Lewis, G J T Pauer, E. Simpson, S.A. Hagstrom, Elias I Traboulsi,
Tópico(s)Retinal and Macular Surgery
ResumoA novel mutation in the RDS gene in an Italian family with pattern dystrophyThe term ''pattern dystrophy'' (PD) of the retina refers to a group of inherited dystrophies characterised by deposition of abnormal pigment at the level of retinal pigment epithelium (RPE). 1 Several studies have correlated PD with mutations in the RDS gene. 2-7Therefore,
Referência(s)