Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics of SCCD have localized the defective gene to a 1.58 Mbp interval on chromosome 1p, exhaustive sequencing of positional candidate genes has thus far failed to reveal causal mutations. We have ascertained a large multigenerational family in Nova Scotia affected with SCCD in which we have confirmed linkage to the same general area of chromosome 1. Intensive fine mapping in our family revealed a 1.3 Mbp candidate interval overlapping that previously reported. Sequencing of genes in our interval led to the identification of five putative causal mutations in gene UBIAD1, in our family as well as in four other small families of various geographic origins. UBIAD1 encodes a potential prenyltransferase, and is reported to interact physically with apolipoprotein E. UBIAD1 may play a direct role in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage.

irritation. Using AMT with MOSR relieves symptoms and decreases surgical time.Recently, several sutureless amniotic graft implantation procedures have been described. The Prokera ring (Bio-Tissue, Inc, Doral, Fla.) is an FDA-approved device that consists of a cryopreserved amniotic membrane circle clamped into a dual-polycarbonate ring. However, it has a relatively high cost. Liang et al. created a modified symblepharon ring using a polymethylmethacrylate ring to apply the amniotic membrane for patients with ocular chemical burns. 4 They showed that sutureless AMT using MOSR had better efficacy than the conventional sutured AMT in the treatment of acute ocular burns.Symblepharon formation is one of the most challenging problems in severe ocular surface diseases. Various procedures have been evaluated to prevent symblepharon formation, such as the conformer or conventional symblepharon ring combined with AMT. Commercially available amniotic bandage tissues such as the Prokera ring cover just the corneal and limbal surfaces, leaving the deep fornix unreachable, and fail to prevent symblepharon formation. AMT with the MOSR procedure expands the effective coverage of the amniotic graft to the entire ocular surface, including the cornea, bulbar conjunctiva, fornices, and palpebral conjunctiva, and prevents significant ocular surface scarring and symblepharon formation. Compared with other options, the MOSR is an inexpensive and an easily accessible option. It can also be customized for each individual. As the MOSR is placed into fornices, it does not have any cosmetic effects. The central aperture of the MOSR allows oxygen and drops to reach the ocular surface and allows examination of the ocular surface during the postoperative period. Postoperatively, the MOSR can be easily removed from the ocular surface in the office.This study demonstrates a simple, effective, and safe technique using AMT combined with MOSR for ocular surface rehabilitation without the need for suturing. This modified technique is economically advantageous and may be an alternative to conventional symblepharon ring or other sutureless AMT techniques.

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