Choroidal Neovascularization in Patients with Adult-Onset Foveomacular Dystrophy Caused by Mutations in the RDS/Peripherin Gene

Abstract

Adult-onset foveomacular dystrophy (AOFMD) was first described as a peculiar foveomacular dystrophy in 1974 (Gass, 1974). A mutation in the RDS/peripherin gene (Pro-210- Arg) was identified in this particular kindred (Gorin et al., 1994). Subsequently, Feist and coworkers reported a case of choroidal neovascularization associated with AOFMD in a patient with the Pro-210-Arg mutation (Feist et al., 1994). To our knowledge, CNV in AOFMD is rare as demonstrated by only two other descriptions of it in the literature: 1) Vine and Schatz described three instances in two patients, neither of whom had an identi- fied mutation (Vine et al., 1980); and 2) Battaglia Parodi and coworkers described a case of subfoveal CNV in a vascularized pigment epithelial detachment in a patient with AOFMD (Battaglia et al., 2000). Recently, an A to G change, predicting a Tyr-141-Cys substitution in the RDS/peripherin gene has been described that results in AOFMD which is dominantly transmitted (Yang et al., 2004). In addition, a frameshift mutation in exon 1 of the RDS/peripherin gene, that results in a guanine deletion at nucleotide position 112, leads to a premature termination of the gene product at amino acid 38 and has been implicated in the genesis of AOFMD in a 13-family member kindred (Yang et al., 2003). We present three cases of subfoveal CNV in patients with AOFMD, which were caused by RDS/peripherin gene mutations.