(GPR143) Ocular Albinism Type 1
• Cell line states: affected males (c.251del C)
• Defects in GPR143 are the cause of ocular albinism type 1 (OA1); also known as Nettleship-Falls type ocular albinism. OA1 is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes.