Condition: OCCULT MACULAR DYSTROPHY
rs267607017 in
RP1L1 gene and
OCCULT MACULAR DYSTROPHY
PMID 22605915 2012 A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.
PMID 20826268 2010 However, amino acid substitution of p.Arg45Trp in retinitis pigmentosa 1-like 1 (RP1L1) was found in three OMD families and p.Trp960Arg in a remaining OMD family.
PMID 20826268 2010 However, amino acid substitution of p.Arg45Trp in retinitis pigmentosa 1-like 1 (RP1L1) was found in three OMD families and p.Trp960Arg in a remaining OMD family.
PMID 20826268 2010 Dominant mutations in RP1L1 are responsible for occult macular dystrophy.