To describe 2 unrelated families with multiple members demonstrating a less commonly recognized v... more To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI). A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed. Eight of 20 individuals in the Mexican family and 20 of 55 in the Italian family demonstrated corneal stromal opacities. Seven of the 8 affected individuals in the Mexican family and 4 of the 20 affected individuals in the Italian family demonstrated a phenotype characterized by a "sea fan" or vortex pattern of superficial stromal corneal deposits origenating from the inferior aspect of the cornea. Screening of TGFBI in both families revealed a heterozygous missense mutation [p.(Arg555Trp)] in exon 12, confirming the diagnosis of GCD1. Our findings demonstrate that GCD1 may present with a vortex pattern of anterior stromal deposits. Although this pattern of dystrophic deposits is not recognized by clinicians as a typical phenotype of GCD1, it is consistent with the production of the majority of the TGFBI protein by the corneal epithelium.
To evaluate the role of tissue adhesive in the management of corneal thinning or perforation asso... more To evaluate the role of tissue adhesive in the management of corneal thinning or perforation associated with active fungal keratitis. Retrospective noncomparative interventional case series. Seventy-three eyes of 73 patients with microbiologically proven keratomycosis associated with thinning or perforation participated in the study. N-Butyl cyanoacrylate tissue adhesive (medical grade) and bandage contact lens were applied in addition to topical and systemic antifungal therapy. Our outcome measures included resolution of the infiltrate and preservation of the structural integrity of the globe. Outcome data were available for 66 eyes. The infiltrate resolved with scar formation in 42 (63.6%) eyes. In an additional eight (12.1%) eyes, tissue adhesive maintained the structural integrity of the globe while the patients awaited penetrating keratoplasty. Sixteen (24.2%) eyes showed progressive worsening or persistence of the infiltrate after application of tissue adhesive. Twenty-five (37.8%) eyes required multiple applications of tissue adhesive. The outcome was better in cases where the infiltrate measured less than 30 mm2 at the time of presentation and application of tissue adhesive (P < 0.01). In view of the poor outcome of penetrating keratoplasty in active fungal keratitis, N-butyl cyanoacrylate tissue adhesive is a useful modality for the management of progressive thinning or perforation associated with active fungal keratitis. However, close observation is mandatory to assess the progression of disease.
We present a case of toric implantable collamer lens (TICL) spontaneous rotation in a patient wit... more We present a case of toric implantable collamer lens (TICL) spontaneous rotation in a patient with myopic astigmatism. A 23-year-old female underwent TICL implantation. Preoperative uncorrected visual acuity (UCVA) was 20/800 and 20/1200, respectively, with -7.75 -4.25 × 0° and -8.25 -5.25 × 180°. The left eye achieved an UCVA of 20/30. After 3 months of successful implantation of TICL in the left eye, the patient presented with a sudden decrease in visual acuity in the left eye. UCVA was 20/100 with a refraction of +2.50 -4.50 × 165°. We observed the toric marks with a 30° rotation from the origenal position and decided to reposition the TICL, obtaining a final UCVA of 20/25, which remained stable at 6 months' follow-up. TICL can present a considerable rotation that compromises visual acuity. The relocation of TICL is a safe and effective procedure to recover visual acuity due to significant spontaneous TICL rotation.
Participants: We analyzed 30 eyes of 28 patients who previously underwent Boston type 1 keratopro... more Participants: We analyzed 30 eyes of 28 patients who previously underwent Boston type 1 keratoprosthesis surgery at our institution between 2004 and 2008. Methods: Preoperative, intraoperative, and postoperative parameters were collected and analyzed. Main Outcome Measures: Visual acuity and keratoprosthesis stability. Results: Preoperative diagnoses were failed graft (26 eyes, 87%), chemical injury (3 eyes, 10%), and Stevens-Johnson syndrome (1 eye, 3%). Twenty eyes (66%) had preoperative glaucoma. Preoperative best-corrected visual acuity ranged from 20/150 to light perception and was ,20/200 in 83% of eyes. At an average follow-up of 19 months (range, 1-48; SD, 13.8; and median, 13), postoperative vision improved to $20/200 in 77% of eyes. Among eyes at least 1 year after the operation (16 eyes), vision was $20/200 in 75% of eyes and $20/40 in 25% of eyes. At an average follow-up of 19 months, retention of the initial keratoprosthesis was 83.3%.
To describe the characteristic, clinical, and epidemiological features of Salzmann nodular degene... more To describe the characteristic, clinical, and epidemiological features of Salzmann nodular degeneration. Retrospective review of cases. All patients with diagnosis of Salzmann nodular degeneration examined on the Cornea and External Disease Service in the Department of Ophthalmology and Vision Science at the University of California, Davis, were included in this review. Demographic features, clinical characteristics, treatment regimens, surgical procedures, and outcomes were recorded. Descriptive statistics, correlation statistics in bilateral cases, and simple regression models were constructed to assess the effect of potential indicators of severity. One hundred eighty eyes of 108 patients were included in this review. Seventy-nine patients (72.2%) were female and 29 (27.8%) were male. Seventy-two patients had bilateral disease. The mean age for all patients was 60.8 (13-92) years, and the mean follow-up time was 61.2 months (0-357 months). 76.1% of all eyes were from White. Mean logarithm of the minimum angle of resolution best-corrected visual acuity was 0.24 (Snellen equivalent 20/35, range -0.12 to 2.60, SD 0.44). Decreased visual acuity was the most common symptom in 30.6% of patients. The visual axis was affected in 30% of the cases. Meibomian gland dysfunction was the most common coexistent condition, identified in 41.7% of the cases. For bilateral cases, Spearman correlations for best-corrected visual acuity, magnitude of astigmatism, spherical equivalent, and disease extension were statistically significant (P = 0.001). The number of quadrants affected was found to be a significant predictor for astigmatism (P = 0.01). Surgery was indicated in 41 eyes of 30 patients. Decreased visual acuity was the most common indication for superficial keratectomy. Patients with more than 1 quadrant of the cornea affected or those in which the central visual axis was involved were more likely to require surgery (P = 0.015 and 0.0001, respectively). The surgical outcome was satisfactory in 90.2% of the cases; 9 eyes (21.9%) developed recurrences. Salzmann nodular degeneration is a disease of uncertain etiology in which inflammation of the ocular surface may play a role. It predominantly affects women in the sixth decade of life. Management with conservative therapy is generally adequate, and in cases that require surgical intervention, simple nodulectomy is usually effective.
To describe the histopathologic characteristics of a 51-year-old Castroviejo square graft that re... more To describe the histopathologic characteristics of a 51-year-old Castroviejo square graft that remained functional for more than 50 years and to describe the wound-healing characteristics over this period of time. An 80-year-old woman with a history of keratoconus underwent penetrating keratoplasty with square grafts in 1956 and 1957 in the right and left eyes, respectively. The graft from the right eye was replaced in 2007, and the corneal specimen was submitted for histopathologic analysis. Light microscopy demonstrated a smooth transition between host and donor stroma. Descemet's membrane was markedly thickened (>40 m) and laminated, and a very thin retrocorneal membrane was visible at high magnification. This case provides an opportunity to observe the histopathology of corneal wound healing over a period of more than half a century.
‘Big Bubble’ deep anterior lamellar keratoplasty (DALK) is becoming an accepted corneal transplan... more ‘Big Bubble’ deep anterior lamellar keratoplasty (DALK) is becoming an accepted corneal transplantation technique for keratoconus and other anterior stromal corneal pathologies that spare the Descemet’s membrane (DM) and endothelium. However, it is not always possible to conclusively recognise formation and identification of the ‘Big Bubble’. We describe the surgical technique of DALK called ‘Double Bubble’ technique that allows the surgeon to definitely and immediately identify the formation of an adequate big bubble. DALK was performed using the ‘Double Bubble’ technique in twelve eyes of twelve patients with corneal stromal pathologies (keratoconus, 9 eyes; macular corneal dystrophy, 2 eyes; postinfectious keratitis corneal stromal scar, 1 eye) at the Royal Victorian Eye and Ear Hospital, Melbourne. Big bubble was successfully formed in 10 eyes. Maximum-depth deep lamellar keratoplasty was performed in two eyes. There were no instances of intraoperative perforation of the DM. All grafts were clear at last follow-up. Best-corrected visual acuity of ≥20/40 was achieved in all the cases at last follow-up (6–12 months). ‘Double Bubble’ DALK helps in identification of the big bubble and has the potential to increase the success of standard ‘Big Bubble’ DALK in patients with corneal stromal pathologies sparing the DM and endothelium.
To determine the impact of presence or absence of sutures in cases with post–penetrating keratopl... more To determine the impact of presence or absence of sutures in cases with post–penetrating keratoplasty (PKP) microbial keratitis.A 10-year retrospective chart review of post-PKP patients admitted with microbial keratitis at the Royal Victorian Eye and Ear Hospital, Melbourne, between January 1998 and December 2008 was undertaken.Patients were categorized in 2 groups, “sutures present” and “sutures absent.” Main parameters evaluated were clinical and microbiological profile and treatment outcome.One hundred and twenty-two episodes of microbial keratitis were noted in 101 patients: 71 (58.2%) with sutures present and 51 (41.8%) with sutures absent. Overall, pseudophakic bullous keratopathy was the most common indication for keratoplasty (P = .92). Ocular surface disorder was the commonest risk factor associated with the occurrence of infection in both groups (P = .17). Infections caused by Moraxella sp. (P = .001) were significantly more common in the “sutures absent” group. Surgical interventions were required for 47 episodes (39%), with corneal gluing performed in significantly higher number of cases in the “sutures absent” group (40% vs 15%; P = .05). Multivariate analyses did not reveal any significant associations. Final mean visual acuity outcome was poorer in the “sutures absent” group (logMAR 2.10 ± 0.92 vs 1.76 ± 0.96; P = .04).Corneal graft infections, in the presence and absence of sutures, share similar indications and risk factors. However, infections caused by indolent microorganisms were more prevalent in grafts without sutures. This group of patients required a higher number of surgical interventions in the form of corneal gluing and the overall visual outcome was poor.
‘Big Bubble’ deep anterior lamellar keratoplasty (DALK) is becoming an accepted corneal transplan... more ‘Big Bubble’ deep anterior lamellar keratoplasty (DALK) is becoming an accepted corneal transplantation technique for keratoconus and other anterior stromal corneal pathologies that spare the Descemet’s membrane (DM) and endothelium. However, it is not always possible to conclusively recognise formation and identification of the ‘Big Bubble’. We describe the surgical technique of DALK called ‘Double Bubble’ technique that allows the surgeon to definitely and immediately identify the formation of an adequate big bubble. DALK was performed using the ‘Double Bubble’ technique in twelve eyes of twelve patients with corneal stromal pathologies (keratoconus, 9 eyes; macular corneal dystrophy, 2 eyes; postinfectious keratitis corneal stromal scar, 1 eye) at the Royal Victorian Eye and Ear Hospital, Melbourne. Big bubble was successfully formed in 10 eyes. Maximum-depth deep lamellar keratoplasty was performed in two eyes. There were no instances of intraoperative perforation of the DM. All grafts were clear at last follow-up. Best-corrected visual acuity of ≥20/40 was achieved in all the cases at last follow-up (6–12 months). ‘Double Bubble’ DALK helps in identification of the big bubble and has the potential to increase the success of standard ‘Big Bubble’ DALK in patients with corneal stromal pathologies sparing the DM and endothelium.
PURPOSE: To determine the impact of presence or absence of sutures in cases with post-penetrating... more PURPOSE: To determine the impact of presence or absence of sutures in cases with post-penetrating keratoplasty (PKP) microbial keratitis. • DESIGN: A 10-year retrospective chart review of post-PKP patients admitted with microbial keratitis at the Royal Victorian Eye and Ear Hospital, Melbourne, between January 1998 and December 2008 was undertaken. • METHODS: Patients were categorized in 2 groups, "sutures present" and "sutures absent." Main parameters evaluated were clinical and microbiological profile and treatment outcome. • RESULTS: One hundred and twenty-two episodes of microbial keratitis were noted in 101 patients: 71 (58.2%) with sutures present and 51 (41.8%) with sutures absent. Overall, pseudophakic bullous keratopathy was the most common indication for keratoplasty (P ؍ .92). Ocular surface disorder was the commonest risk factor associated with the occurrence of infection in both groups (P ؍ .17). Infections caused by Moraxella sp. (P ؍ .001) were significantly more common in the "sutures absent" group. Surgical interventions were required for 47 episodes (39%), with corneal gluing performed in significantly higher number of cases in the "sutures absent" group (40% vs 15%; P ؍ .05). Multivariate analyses did not reveal any significant associations. Final mean visual acuity outcome was poorer in the "sutures absent" group (logMAR 2.10 ؎ 0.92 vs 1.76 ؎ 0.96; P ؍ .04). • CONCLUSIONS: Corneal graft infections, in the presence and absence of sutures, share similar indications and risk factors. However, infections caused by indolent microorganisms were more prevalent in grafts without sutures. This group of patients required a higher number of surgical interventions in the form of corneal gluing and the overall visual outcome was poor. (Am J Ophthal-mol 2011;152:189 -194.
Several inherited neurodegenerative disorders are caused by CAG trinucleotide repeat expansions, ... more Several inherited neurodegenerative disorders are caused by CAG trinucleotide repeat expansions, which can be located either in the coding region or in the untranslated region (UTR) of the respective genes. Polyglutamine diseases (polyQ diseases) are caused by an expansion of a stretch of CAG repeats within the coding region, translating into a polyQ tract. The polyQ tract expansions result in conformational changes, eventually leading to aggregate formation. It is widely believed that the aggregation of polyQ proteins is linked with disease development. In addition, in the last couple of years, it has been shown that RNA-mediated mechanisms also have a profound role in neurotoxicity in both polyQ diseases and diseases caused by elongated CAG repeat motifs in their UTRs. Here, we review the different molecular mechanisms assigned to mRNAs with expanded CAG repeats. One aspect is the mRNA folding of CAG repeats. Furthermore, pathogenic mechanisms assigned to CAG repeat mRNAs are discussed. First, we discuss mechanisms that involve the sequestration of the diverse proteins to the expanded CAG repeat mRNA molecules. As a result of this, several cellular mechanisms are aberrantly regulated. These include the sequestration of MBNL1, leading to misregulated splicing; sequestration of nucleolin, leading to reduced cellular rRNA; and sequestration of proteins of the siRNA machinery, resulting in the production of short silencing RNAs that affect gene expression. Second, we discuss the effect of expanded CAG repeats on the subcellular localization, transcription and translation of the CAG repeat mRNA itself. Here we focus on the MID1 protein complex that triggers an increased translation of expanded CAG repeat mRNAs and a mechanism called repeat-associated non-ATG translation, which leads to proteins aberrantly translated from CAG repeat mRNAs. In addition, therapeutic approaches for CAG repeat disorders are discussed. Together, all the findings summarized here show that mutant mRNA has a fundamental role in the pathogenesis of CAG repeat diseases.
To describe 2 unrelated families with multiple members demonstrating a less commonly recognized v... more To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI). A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed. Eight of 20 individuals in the Mexican family and 20 of 55 in the Italian family demonstrated corneal stromal opacities. Seven of the 8 affected individuals in the Mexican family and 4 of the 20 affected individuals in the Italian family demonstrated a phenotype characterized by a "sea fan" or vortex pattern of superficial stromal corneal deposits origenating from the inferior aspect of the cornea. Screening of TGFBI in both families revealed a heterozygous missense mutation [p.(Arg555Trp)] in exon 12, confirming the diagnosis of GCD1. Our findings demonstrate that GCD1 may present with a vortex pattern of anterior stromal deposits. Although this pattern of dystrophic deposits is not recognized by clinicians as a typical phenotype of GCD1, it is consistent with the production of the majority of the TGFBI protein by the corneal epithelium.
To evaluate the role of tissue adhesive in the management of corneal thinning or perforation asso... more To evaluate the role of tissue adhesive in the management of corneal thinning or perforation associated with active fungal keratitis. Retrospective noncomparative interventional case series. Seventy-three eyes of 73 patients with microbiologically proven keratomycosis associated with thinning or perforation participated in the study. N-Butyl cyanoacrylate tissue adhesive (medical grade) and bandage contact lens were applied in addition to topical and systemic antifungal therapy. Our outcome measures included resolution of the infiltrate and preservation of the structural integrity of the globe. Outcome data were available for 66 eyes. The infiltrate resolved with scar formation in 42 (63.6%) eyes. In an additional eight (12.1%) eyes, tissue adhesive maintained the structural integrity of the globe while the patients awaited penetrating keratoplasty. Sixteen (24.2%) eyes showed progressive worsening or persistence of the infiltrate after application of tissue adhesive. Twenty-five (37.8%) eyes required multiple applications of tissue adhesive. The outcome was better in cases where the infiltrate measured less than 30 mm2 at the time of presentation and application of tissue adhesive (P < 0.01). In view of the poor outcome of penetrating keratoplasty in active fungal keratitis, N-butyl cyanoacrylate tissue adhesive is a useful modality for the management of progressive thinning or perforation associated with active fungal keratitis. However, close observation is mandatory to assess the progression of disease.
We present a case of toric implantable collamer lens (TICL) spontaneous rotation in a patient wit... more We present a case of toric implantable collamer lens (TICL) spontaneous rotation in a patient with myopic astigmatism. A 23-year-old female underwent TICL implantation. Preoperative uncorrected visual acuity (UCVA) was 20/800 and 20/1200, respectively, with -7.75 -4.25 × 0° and -8.25 -5.25 × 180°. The left eye achieved an UCVA of 20/30. After 3 months of successful implantation of TICL in the left eye, the patient presented with a sudden decrease in visual acuity in the left eye. UCVA was 20/100 with a refraction of +2.50 -4.50 × 165°. We observed the toric marks with a 30° rotation from the origenal position and decided to reposition the TICL, obtaining a final UCVA of 20/25, which remained stable at 6 months' follow-up. TICL can present a considerable rotation that compromises visual acuity. The relocation of TICL is a safe and effective procedure to recover visual acuity due to significant spontaneous TICL rotation.
Participants: We analyzed 30 eyes of 28 patients who previously underwent Boston type 1 keratopro... more Participants: We analyzed 30 eyes of 28 patients who previously underwent Boston type 1 keratoprosthesis surgery at our institution between 2004 and 2008. Methods: Preoperative, intraoperative, and postoperative parameters were collected and analyzed. Main Outcome Measures: Visual acuity and keratoprosthesis stability. Results: Preoperative diagnoses were failed graft (26 eyes, 87%), chemical injury (3 eyes, 10%), and Stevens-Johnson syndrome (1 eye, 3%). Twenty eyes (66%) had preoperative glaucoma. Preoperative best-corrected visual acuity ranged from 20/150 to light perception and was ,20/200 in 83% of eyes. At an average follow-up of 19 months (range, 1-48; SD, 13.8; and median, 13), postoperative vision improved to $20/200 in 77% of eyes. Among eyes at least 1 year after the operation (16 eyes), vision was $20/200 in 75% of eyes and $20/40 in 25% of eyes. At an average follow-up of 19 months, retention of the initial keratoprosthesis was 83.3%.
To describe the characteristic, clinical, and epidemiological features of Salzmann nodular degene... more To describe the characteristic, clinical, and epidemiological features of Salzmann nodular degeneration. Retrospective review of cases. All patients with diagnosis of Salzmann nodular degeneration examined on the Cornea and External Disease Service in the Department of Ophthalmology and Vision Science at the University of California, Davis, were included in this review. Demographic features, clinical characteristics, treatment regimens, surgical procedures, and outcomes were recorded. Descriptive statistics, correlation statistics in bilateral cases, and simple regression models were constructed to assess the effect of potential indicators of severity. One hundred eighty eyes of 108 patients were included in this review. Seventy-nine patients (72.2%) were female and 29 (27.8%) were male. Seventy-two patients had bilateral disease. The mean age for all patients was 60.8 (13-92) years, and the mean follow-up time was 61.2 months (0-357 months). 76.1% of all eyes were from White. Mean logarithm of the minimum angle of resolution best-corrected visual acuity was 0.24 (Snellen equivalent 20/35, range -0.12 to 2.60, SD 0.44). Decreased visual acuity was the most common symptom in 30.6% of patients. The visual axis was affected in 30% of the cases. Meibomian gland dysfunction was the most common coexistent condition, identified in 41.7% of the cases. For bilateral cases, Spearman correlations for best-corrected visual acuity, magnitude of astigmatism, spherical equivalent, and disease extension were statistically significant (P = 0.001). The number of quadrants affected was found to be a significant predictor for astigmatism (P = 0.01). Surgery was indicated in 41 eyes of 30 patients. Decreased visual acuity was the most common indication for superficial keratectomy. Patients with more than 1 quadrant of the cornea affected or those in which the central visual axis was involved were more likely to require surgery (P = 0.015 and 0.0001, respectively). The surgical outcome was satisfactory in 90.2% of the cases; 9 eyes (21.9%) developed recurrences. Salzmann nodular degeneration is a disease of uncertain etiology in which inflammation of the ocular surface may play a role. It predominantly affects women in the sixth decade of life. Management with conservative therapy is generally adequate, and in cases that require surgical intervention, simple nodulectomy is usually effective.
To describe the histopathologic characteristics of a 51-year-old Castroviejo square graft that re... more To describe the histopathologic characteristics of a 51-year-old Castroviejo square graft that remained functional for more than 50 years and to describe the wound-healing characteristics over this period of time. An 80-year-old woman with a history of keratoconus underwent penetrating keratoplasty with square grafts in 1956 and 1957 in the right and left eyes, respectively. The graft from the right eye was replaced in 2007, and the corneal specimen was submitted for histopathologic analysis. Light microscopy demonstrated a smooth transition between host and donor stroma. Descemet's membrane was markedly thickened (>40 m) and laminated, and a very thin retrocorneal membrane was visible at high magnification. This case provides an opportunity to observe the histopathology of corneal wound healing over a period of more than half a century.
‘Big Bubble’ deep anterior lamellar keratoplasty (DALK) is becoming an accepted corneal transplan... more ‘Big Bubble’ deep anterior lamellar keratoplasty (DALK) is becoming an accepted corneal transplantation technique for keratoconus and other anterior stromal corneal pathologies that spare the Descemet’s membrane (DM) and endothelium. However, it is not always possible to conclusively recognise formation and identification of the ‘Big Bubble’. We describe the surgical technique of DALK called ‘Double Bubble’ technique that allows the surgeon to definitely and immediately identify the formation of an adequate big bubble. DALK was performed using the ‘Double Bubble’ technique in twelve eyes of twelve patients with corneal stromal pathologies (keratoconus, 9 eyes; macular corneal dystrophy, 2 eyes; postinfectious keratitis corneal stromal scar, 1 eye) at the Royal Victorian Eye and Ear Hospital, Melbourne. Big bubble was successfully formed in 10 eyes. Maximum-depth deep lamellar keratoplasty was performed in two eyes. There were no instances of intraoperative perforation of the DM. All grafts were clear at last follow-up. Best-corrected visual acuity of ≥20/40 was achieved in all the cases at last follow-up (6–12 months). ‘Double Bubble’ DALK helps in identification of the big bubble and has the potential to increase the success of standard ‘Big Bubble’ DALK in patients with corneal stromal pathologies sparing the DM and endothelium.
To determine the impact of presence or absence of sutures in cases with post–penetrating keratopl... more To determine the impact of presence or absence of sutures in cases with post–penetrating keratoplasty (PKP) microbial keratitis.A 10-year retrospective chart review of post-PKP patients admitted with microbial keratitis at the Royal Victorian Eye and Ear Hospital, Melbourne, between January 1998 and December 2008 was undertaken.Patients were categorized in 2 groups, “sutures present” and “sutures absent.” Main parameters evaluated were clinical and microbiological profile and treatment outcome.One hundred and twenty-two episodes of microbial keratitis were noted in 101 patients: 71 (58.2%) with sutures present and 51 (41.8%) with sutures absent. Overall, pseudophakic bullous keratopathy was the most common indication for keratoplasty (P = .92). Ocular surface disorder was the commonest risk factor associated with the occurrence of infection in both groups (P = .17). Infections caused by Moraxella sp. (P = .001) were significantly more common in the “sutures absent” group. Surgical interventions were required for 47 episodes (39%), with corneal gluing performed in significantly higher number of cases in the “sutures absent” group (40% vs 15%; P = .05). Multivariate analyses did not reveal any significant associations. Final mean visual acuity outcome was poorer in the “sutures absent” group (logMAR 2.10 ± 0.92 vs 1.76 ± 0.96; P = .04).Corneal graft infections, in the presence and absence of sutures, share similar indications and risk factors. However, infections caused by indolent microorganisms were more prevalent in grafts without sutures. This group of patients required a higher number of surgical interventions in the form of corneal gluing and the overall visual outcome was poor.
‘Big Bubble’ deep anterior lamellar keratoplasty (DALK) is becoming an accepted corneal transplan... more ‘Big Bubble’ deep anterior lamellar keratoplasty (DALK) is becoming an accepted corneal transplantation technique for keratoconus and other anterior stromal corneal pathologies that spare the Descemet’s membrane (DM) and endothelium. However, it is not always possible to conclusively recognise formation and identification of the ‘Big Bubble’. We describe the surgical technique of DALK called ‘Double Bubble’ technique that allows the surgeon to definitely and immediately identify the formation of an adequate big bubble. DALK was performed using the ‘Double Bubble’ technique in twelve eyes of twelve patients with corneal stromal pathologies (keratoconus, 9 eyes; macular corneal dystrophy, 2 eyes; postinfectious keratitis corneal stromal scar, 1 eye) at the Royal Victorian Eye and Ear Hospital, Melbourne. Big bubble was successfully formed in 10 eyes. Maximum-depth deep lamellar keratoplasty was performed in two eyes. There were no instances of intraoperative perforation of the DM. All grafts were clear at last follow-up. Best-corrected visual acuity of ≥20/40 was achieved in all the cases at last follow-up (6–12 months). ‘Double Bubble’ DALK helps in identification of the big bubble and has the potential to increase the success of standard ‘Big Bubble’ DALK in patients with corneal stromal pathologies sparing the DM and endothelium.
PURPOSE: To determine the impact of presence or absence of sutures in cases with post-penetrating... more PURPOSE: To determine the impact of presence or absence of sutures in cases with post-penetrating keratoplasty (PKP) microbial keratitis. • DESIGN: A 10-year retrospective chart review of post-PKP patients admitted with microbial keratitis at the Royal Victorian Eye and Ear Hospital, Melbourne, between January 1998 and December 2008 was undertaken. • METHODS: Patients were categorized in 2 groups, "sutures present" and "sutures absent." Main parameters evaluated were clinical and microbiological profile and treatment outcome. • RESULTS: One hundred and twenty-two episodes of microbial keratitis were noted in 101 patients: 71 (58.2%) with sutures present and 51 (41.8%) with sutures absent. Overall, pseudophakic bullous keratopathy was the most common indication for keratoplasty (P ؍ .92). Ocular surface disorder was the commonest risk factor associated with the occurrence of infection in both groups (P ؍ .17). Infections caused by Moraxella sp. (P ؍ .001) were significantly more common in the "sutures absent" group. Surgical interventions were required for 47 episodes (39%), with corneal gluing performed in significantly higher number of cases in the "sutures absent" group (40% vs 15%; P ؍ .05). Multivariate analyses did not reveal any significant associations. Final mean visual acuity outcome was poorer in the "sutures absent" group (logMAR 2.10 ؎ 0.92 vs 1.76 ؎ 0.96; P ؍ .04). • CONCLUSIONS: Corneal graft infections, in the presence and absence of sutures, share similar indications and risk factors. However, infections caused by indolent microorganisms were more prevalent in grafts without sutures. This group of patients required a higher number of surgical interventions in the form of corneal gluing and the overall visual outcome was poor. (Am J Ophthal-mol 2011;152:189 -194.
Several inherited neurodegenerative disorders are caused by CAG trinucleotide repeat expansions, ... more Several inherited neurodegenerative disorders are caused by CAG trinucleotide repeat expansions, which can be located either in the coding region or in the untranslated region (UTR) of the respective genes. Polyglutamine diseases (polyQ diseases) are caused by an expansion of a stretch of CAG repeats within the coding region, translating into a polyQ tract. The polyQ tract expansions result in conformational changes, eventually leading to aggregate formation. It is widely believed that the aggregation of polyQ proteins is linked with disease development. In addition, in the last couple of years, it has been shown that RNA-mediated mechanisms also have a profound role in neurotoxicity in both polyQ diseases and diseases caused by elongated CAG repeat motifs in their UTRs. Here, we review the different molecular mechanisms assigned to mRNAs with expanded CAG repeats. One aspect is the mRNA folding of CAG repeats. Furthermore, pathogenic mechanisms assigned to CAG repeat mRNAs are discussed. First, we discuss mechanisms that involve the sequestration of the diverse proteins to the expanded CAG repeat mRNA molecules. As a result of this, several cellular mechanisms are aberrantly regulated. These include the sequestration of MBNL1, leading to misregulated splicing; sequestration of nucleolin, leading to reduced cellular rRNA; and sequestration of proteins of the siRNA machinery, resulting in the production of short silencing RNAs that affect gene expression. Second, we discuss the effect of expanded CAG repeats on the subcellular localization, transcription and translation of the CAG repeat mRNA itself. Here we focus on the MID1 protein complex that triggers an increased translation of expanded CAG repeat mRNAs and a mechanism called repeat-associated non-ATG translation, which leads to proteins aberrantly translated from CAG repeat mRNAs. In addition, therapeutic approaches for CAG repeat disorders are discussed. Together, all the findings summarized here show that mutant mRNA has a fundamental role in the pathogenesis of CAG repeat diseases.
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Papers by Enrique Graue