UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695  A  & gt;  G identified in a multigenerational Japanese family with Schnyder corneal dystrophy

ConclusionThis is the first report on the pathogenicUBIAD1 variation c.695  A >  G (p.Asn232Ser) in a Japanese population. SCD is a rare corneal dystrophy, and further research on additional cases will aid in the elucidation of disease mechanisms and development of therapeutic strategies.
Source: Japanese Journal of Ophthalmology - Category: Opthalmology Source Type: research