Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy

Abstract

Our findings show that the corneal grafts in the reported SCD pedigree remained clear with no rejection or disease recurrence over the long term.

Interhelical H-Bonds Modulate the Activity of a Polytopic Transmembrane Kinase

“…Furthermore, Proteinprotein interactions within the membrane are involved in many vital cellular processes [30] and mutations in these residues are associated with disease. For example, the introduction of a polar residue (I441T) in the TMS of the Thiamine transporter 1 in Homo sapiens leads to Anemia [33] and the mutation G177R/E in the UbiA prenyltransferase domain-containing protein 1, Homo sapiens, cause the rare Schnyder crystalline corneal dystrophy [34]. These evidential facts strongly suggest that membrane proteins can be regulated by hydrophilic interactions among their TMS, and changes in these interactions may lead to alterations in the conformation of the catalytic domain.…”

Management of Stromal Corneal Dystrophies; Review of the Literature with a Focus on Phototherapeutic Keratectomy and Keratoplasty

“…There is scarce literature on the outcome of penetrating keratoplasty and no data on the outcome of DALK in SCD. Kitazawa et al reported long-term outcomes following penetrating keratoplasty in six eyes of five patients with Schnyder’s dystrophy confirmed by genetic analysis [ 127 ]. The authors reported BCVA of 0.02 LogMar in all eyes at 3 years, which was a significant improvement from preoperative visual acuity (1.7 to 0.22 LogMar).…”