Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5

摘要

The anoctamin (ANO) family consists of 10 members, many of which have been found to be calcium-activated chloride channels (CaCC).1"3 Recessive mutations in anoctamin 5 (AN05) result in a proximal limb-girdle muscular dystrophy (LGMD2L). ANO5 is mostly expressed in the skeletal tissue in humans, but transcripts have been identified in the retinal pigment epithelium (RPE)/choroid and fetal eye.The present report describes an association between LGMD2L consequent upon mutation in ANO5 and macular dystrophy in one affected person.