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Purpose.To report the identification of the firstde novo UBIAD1missense mutation in an individual with Schnyder corneal dystrophy (SCD).Methods.A slit lamp examination was performed on a 47-year-old woman without a family history of corneal disorders. The proband’s parents, two sisters, and son were also examined and genomic DNA from all six individuals was collected. The exons and exon-intron boundaries ofUBIAD1were screened using Sanger sequencing. Identified mutations were screened for in 200 control chromosomes.In silicoanalysis predicted the impact of identified mutations on protein function and structure.Results.Slit lamp examination of the proband revealed findings consistent with SCD. Corneas of the family members appeared unaffected. Screening ofUBIAD1in the proband identified a novel heterozygous c.308C>T mutation, predicted to encode the missense amino acid substitution p.(Thr103Ile). This mutation was not identified in any of the family members or in 200 control chromosomes and was predicted to be damaging to normal protein function and structure.Conclusions.We present a novel heterozygousde novomissense mutation inUBIAD1, p.(Thr103Ile), identified in a patient with classic clinical features of SCD. This highlights the value of genetic testing in clinical diagnostic settings, even in the absence of a positive family history.

Purpose To determine the efficacy of epithelial debridement and diamond burr polishing (ED + DBP) in managing recurrent corneal erosion (RCE) and visually significant epithelial irregularity associated with epithelial basement membrane dystrophy (VS-EBMD). Methods Retrospective, interventional, consecutive case series of all ED + DBP procedures performed between December 1, 2002, and December 1, 2014. Results ED + DBP was performed in 91 eyes (66 patients) for the management of RCE and VS-EBMD. Sixty percent (55/91) of the procedures were performed for RCE, of which 65% (36/55) were associated with EBMD and 22% (12/55) with previous corneal trauma. Forty-six percent (42/91) of the procedures were performed for VS-EBMD, including 6 eyes with RCE. RCE resolved after treatment in 97% of eyes with >3 months of follow-up (mean, 33.2 months; range, 3.5-137.6 months). Corrected distance visual acuity (CDVA) and mean topographic astigmatism improved significantly in the 36 eyes treated for VS-EBMD with >1 month of follow-up. In none of the 22 eyes treated for VS-EBMD with >3 months of follow-up did EBMD recur (mean, 31.7 months; range, 3.2-137.6 months). Surgically induced subepithelial haze was present on last follow-up in 9.4% (8/85) of eyes with >1 month of follow-up, but was not associated with decreased final CDVA in any patient. Conclusions ED + DBP is effective in producing long-term resolution of RCE in 95% of treated eyes and significant improvement in CDVA, decreased topographic astigmatism, and long-term resolution of VS-EBMD in 100% of treated eyes.

Purpose To investigate clinical outcomes in the management of anterior chamber intraocular lenses (ACIOLs) in patients requiring Descemet stripping automated endothelial keratoplasty (DSAEK) for pseudophakic corneal edema. Methods This is a retrospective review of DSAEK procedures performed at a single center between May 1, 2006, and August 1, 2014. Results Forty-three eyes (41 patients) with pseudophakic corneal edema and an ACIOL were identified. In 26 eyes (60.5%), the ACIOL was retained [intraocular lens retention (IOLR) group], and in 17 eyes (39.5%), intraocular lens exchange [(IOLX) group] was concurrent with DSAEK. No significant difference was noted between the IOLR and IOLX groups for the following: the incidence of primary graft failure (7.7% vs. 5.9%; P = 1.0); the incidence (3.8% vs. 0.0%; P = 1.0) or rate (0.036 per eye-year vs. 0 per eye-year; P = 0.28) of secondary graft failure; or the incidence (7.7% vs. 11.8%; P = 1.0) or rate (0.056 per eye-year vs. 0.073 per eye-year; P = 0.69) of endothelial rejection. However, the incidence (23.1% vs. 58.8%; P = 0.026) and rate (0.291 per eye-year vs. 0.475 per eye-year; P = 0.033) of increased intraocular pressure were significantly higher in the IOLX group. There were more complications in the IOLX group, although the difference was not significant (7.7% vs. 29.4%; P = 0.093). Conclusions There is no significant difference in the incidence of primary graft failure or in the rate of secondary graft failure or endothelial rejection in eyes with ACIOL retention or exchange. However, as IOLX is associated with intraoperative and postoperative complications and an increased rate of postoperative intraocular pressure elevation, we recommend performing DSAEK with retention of well-positioned ACIOLs in these eyes.

� PURPOSE: To report sight-threatening complications following extensive bulbar conjunctival resection and postoperative mitomycin C therapy for cosmetic eyewhitening in the United States. � DESIGN: Retrospective noncomparative case series. � METHODS: Multicenter report of 9 patients referred for evaluation and management of complications following bilateral cosmetic eye whitening. � RESULTS: Seventeen eyes of 9 patients underwent cosmetic eye-whitening performed between 2 and 48 months prior to referral to one of the centers. Sixteen of the 17 eyes had persistent conjunctival epithelial defects, with 10 eyes requiring amniotic membrane grafting to facilitate re-epithelialization. Four eyes of 2 patients developed limbal stem cell compromise confirmed with in vivo confocal laser scanning microscopy. One patient developed infectious scleritis and diplopia resulting from Tenon capsule scarring. Another patient developed scleral necrosis, secondary infectious scleritis, and infectious endophthalmitis. This patient subsequently developed noninfectious scleritis that required 3-drug-regimen immunosuppression. � CONCLUSION: Severe adverse effects can occur after extensive cosmetic conjunctival resection followed by topical mitomycin C application. Patients and physicians should be aware of the potential sight-threatening complications associated with this eye-whitening procedure. (Am J Ophthalmol 2014;158:967‐973. Published by Elsevier Inc.)

Purpose To report the usefulness of the Boston type I keratoprosthesis (Massachusetts Eye and Ear Infirmary, Boston, MA) in the management of corneal opacification, corneal limbal stem cell failure, or both in a large single-surgeon series. Design Retrospective review of consecutive clinical case series. Participants All patients undergoing keratoprosthesis implantation by a single surgeon (AJA) between May 1, 2004, and May 31, 2008. Methods Data were collected regarding the preoperative characteristics of each eye undergoing keratoprosthesis implantation, the surgical procedure(s) performed, and the postoperative course. Statistical analysis was performed to identify factors influencing the incidence and severity of postoperative complications. Main Outcome Measures Interval visual acuities, keratoprosthesis retention, and significant postoperative complications. Results Fifty-seven keratoprosthesis procedures were performed in 50 eyes of 49 patients. The primary indication for surgery was repeat corneal transplantation failure (68%), although no prior corneal surgery had been performed in 16% of eyes. Preoperative visual acuity was 20/200 or worse in all eyes, with 88% of eyes having preoperative vision of counting fingers, hand movements, or light perception. The percentage of eyes with postoperative visual acuity of 20/100 or better was 67% at 6 months (n = 45), 75% at 1 year (n = 28), 69% at 2 years (n = 13), and 100% at 3 years (n = 7). In the 31% of patients in whom preoperative vision in the contralateral eye was 20/50 or better, the postoperative vision in the operative eye improved to 20/50 or better in 47% at the last follow-up (average, 18 months; range, 4–49 months). The overall keratoprosthesis retention rate was 84% at an average follow-up of 17 months (79 person-years of follow-up), with 100% retention in 8 eyes with no history of prior corneal transplantation (14.8 person-years of follow-up). The most common postoperative complications were retroprosthetic membrane formation (22 eyes) and persistent epithelial defects (19 eyes). No cases of infectious endophthalmitis were encountered, and only 1 patient with a history of glaucoma required additional glaucoma surgery during the postoperative period. Conclusions The Boston type I keratoprosthesis is an effective means of managing repeat corneal graft failure and corneal limbal stem cell failure with or without corneal opacification in patients with both unilateral and bilateral visual impairment. Financial Disclosure(s) The author(s) have no proprietary or commercial interest in any materials discussed in this article.

To report the utility of epithelial debridement and diamond burr polishing of Bowman's layer (ED + DBP) in the management of recurrent corneal erosions and visually significant epithelial irregularity associated with epithelial basement membrane dystrophy (EBMD).Retrospective interventional consecutive case series.All patients who underwent ED + DBP by a single surgeon between November 1, 2002 and November 1, 2008.Data were collected regarding the frequency and severity of symptoms associated with EBMD as well as previous treatments. Details regarding the procedure and the postoperative course were recorded as well. The significance of the improvement in visual acuity after treatment was determined using Wilcoxon signed rank test.Change in visual acuity and recurrent corneal erosions after treatment.ED + DBP was performed on 56 eyes (42 patients) during the 72-month period under review. Of the 56 eyes, 37 (66%) were treated for recurrent corneal erosions and 22 (39%) were treated for visually significant epithelial irregularity (3 eyes were treated for both conditions). EBMD was diagnosed in 46 eyes (82%), and a history of corneal trauma was elicited in 9 eyes (16%). Visual acuity improved significantly (P = 0.016), and recurrent corneal erosions resolved after treatment in 24 (96%) of the 25 eyes with a history of corneal erosions before treatment with more than 3 months of follow-up (average, 18.9 months; range, 3.5-66.5 months). Visual acuity improved significantly (P = 0.004), and visual aberrations related to epithelial irregularity resolved in all 14 eyes treated for visually significant EBMD with more than 3 months of follow-up (average, 14.2 months; range, 3.4-50.8 months). Mild, central subepithelial corneal haze developed in 12 (26%) of the 47 eyes that did not demonstrate subepithelial haze before ED + DBP, although it was not associated with decreased vision at the last follow-up visit in any patient.ED + DBP is a safe and effective technique in the management of recurrent corneal erosions and visually significant epithelial irregularity associated with EBMD.

Purpose Posterior polymorphous corneal dystrophy (PPCD) is an autosomal-dominant disorder of the corneal endothelium associated with visually significant corneal edema and glaucoma. Statistical genetic analysis of 4 families with PPCD has demonstrated linkage to a 2.4 cM common support interval on chromosome 20 bordered by the markers D20S182 and D20S139. We sought to identify the genetic basis of PPCD linked to chromosome 20 (PPCD1) by screening the 26 positional candidate genes between these markers in a family previously mapped to the PPCD1 region. Methods The coding regions of the 26 positional candidate genes mapped to the common PPCD1 support interval were amplified and sequenced in affected and unaffected individuals from a family previously linked to the PPCD1 locus. Nine other genes positioned just outside of the common PPCD1 support interval but within the autosomal-dominant congenital hereditary endothelial dystrophy interval were also screened. Results Four DNA sequence variants in 3 of the positional candidate genes demonstrated complete segregation with the affected phenotype: p.Thr109Thr (rs6111803) in OVOL2, p.Arg56Gln (novel variant-RPSnovel) in RPS19P1, and p.Thr85Thr (rs1053834) and p.Pro99Ser (rs1053839) in C20orf79. Each of these 4 sequence variants demonstrated significant linkage with the affected phenotype in this family (P = 2.5 x 10 for RPSnovel, rs1053834 and rs1053839; P = 8.6 x 10 for rs6111803). However, we also identified each of these 4 sequence variants in > or = affected control individuals. The haplotype on which the disease-causing mutation is segregating was found to have a population frequency of 4.2% in the CEPH HapMap trios. Although a number of other previously described and novel single nucleotide polymorphisms were identified in the 35 positional candidate genes located within the PPCD1 and congenital hereditary endothelial dystrophy intervals, none segregated with the affected phenotype. Conclusions We report the absence of a presumed pathogenic coding region mutation in the common PPCD1 support interval. Although minor alleles of 4 single nucleotide polymorphisms were identified that segregated with the affected phenotype, the relatively high frequency of each minor allele in the general population indicates that none is a candidate for the causal variant for PPCD. Instead, the causal variant is most likely a coding region deletion or a variant in a noncoding region of the PPCD1 common support interval.

To report the usefulness of the Boston type I keratoprosthesis (Massachusetts Eye and Ear Infirmary, Boston, MA) in the management of corneal opacification, corneal limbal stem cell failure, or both in a large single-surgeon series.Retrospective review of consecutive clinical case series.All patients undergoing keratoprosthesis implantation by a single surgeon (AJA) between May 1, 2004, and May 31, 2008.Data were collected regarding the preoperative characteristics of each eye undergoing keratoprosthesis implantation, the surgical procedure(s) performed, and the postoperative course. Statistical analysis was performed to identify factors influencing the incidence and severity of postoperative complications.Interval visual acuities, keratoprosthesis retention, and significant postoperative complications.Fifty-seven keratoprosthesis procedures were performed in 50 eyes of 49 patients. The primary indication for surgery was repeat corneal transplantation failure (68%), although no prior corneal surgery had been performed in 16% of eyes. Preoperative visual acuity was 20/200 or worse in all eyes, with 88% of eyes having preoperative vision of counting fingers, hand movements, or light perception. The percentage of eyes with postoperative visual acuity of 20/100 or better was 67% at 6 months (n = 45), 75% at 1 year (n = 28), 69% at 2 years (n = 13), and 100% at 3 years (n = 7). In the 31% of patients in whom preoperative vision in the contralateral eye was 20/50 or better, the postoperative vision in the operative eye improved to 20/50 or better in 47% at the last follow-up (average, 18 months; range, 4-49 months). The overall keratoprosthesis retention rate was 84% at an average follow-up of 17 months (79 person-years of follow-up), with 100% retention in 8 eyes with no history of prior corneal transplantation (14.8 person-years of follow-up). The most common postoperative complications were retroprosthetic membrane formation (22 eyes) and persistent epithelial defects (19 eyes). No cases of infectious endophthalmitis were encountered, and only 1 patient with a history of glaucoma required additional glaucoma surgery during the postoperative period.The Boston type I keratoprosthesis is an effective means of managing repeat corneal graft failure and corneal limbal stem cell failure with or without corneal opacification in patients with both unilateral and bilateral visual impairment.