Refractory Recurrent Corneal Erosion after Descemet’s Stripping Automated Endothelial Keratoplasty

Purpose@#To report a case of refractory recurrent corneal erosion that occurred after Descemet’s stripping automated endothelial keratoplasty (DSAEK) in iridocorneal endothelial syndrome.Case summary: A 62-year-old male patient with iridocorneal endothelial syndrome planned to undergo ultrathin DSAEK. At the surgery, corneal epithelial debridement was performed using a No. 15 blade to enhance the surgical field visibility. Three corneal venting incisions were made before graft insertion in the recipient eye. The corneal epithelium was healed at postoperative 1 week. However, the epithelium detached at 2 weeks postoperatively. The loosened epithelium was peeled off, and a therapeutic bandage contact lens was applied. Thereafter, the corneal epithelial detachment did not improve, despite repeated corneal epithelial debridement, prolonged therapeutic bandage contact lens wear, applications of 5% sodium chloride eyedrops and autoserum eyedrops, and intake of doxycycline, steroids, and valaciclovir. Anterior stromal puncture was performed three times, and the corneal epithelium eventually attached at postoperative 8 weeks. Although recurrent corneal erosion was not observed at postoperative 10 weeks, acute graft rejection occurred but improved with immunosuppressive treatment. The corrected visual acuity was 0.8 after cataract surgery, which was performed at 1 year after DSAEK. @*Conclusions@#Refractory recurrent corneal erosion may occur after DSAEK surgery. In such a case, an aggressive treatment including the repeated anterior stromal puncture technique may be helpful.

The Effect of Levator Recession for Upper Eyelid Retraction in Patients with Thyroid-associated Ophthalmopathy

Purpose@#We analyzed factors that affect the outcome of levator recession surgery for upper eyelid retraction in patients with thyroid-associated ophthalmopathy. @*Methods@#Retrospective analysis was performed based on the medical records of 24 patients with thyroid-associated ophthalmopathy who underwent upper eyelid levator recession surgery between February 10, 2010, and September 18, 2018. The margin to reflex distance (MRD), length and area of the upper and lower eyelids were measured and compared with the eyelid analysis software before and after 6 months of surgery on medical records. In addition, factors affecting the difference in MRD1 before and after surgery were examined by multivariate linear regression analysis. @*Results@#Twenty-four patients were included in the study. The MRD1 decreased significantly from 5.12 ± 1.26 mm before surgery to 3.48 ± 1.08 mm at 6 months after surgery (p < 0.001). All upper eyelid measurements, i.e., UEL (p < 0.001), UMA (p < 0.001), UCA (p = 0.004), and ULA (p < 0.001), were significantly decreased after surgery, while none of the lower eyelid measurements showed significant changes. Multivariate logistic regression analysis indicated that lower preoperative MRD1 was associated with the success of the surgery (odds ratio, 0.31; 95% confidence interval, 0.09-1.01). @*Conclusions@#Levator recession surgery is an efficient surgical method that can correct the upper eyelid retraction associated with thyroid-associated ophthalmopathy.

The Effect of Levator Recession for Upper Eyelid Retraction in Patients with Thyroid-associated Ophthalmopathy

Purpose@#We analyzed factors that affect the outcome of levator recession surgery for upper eyelid retraction in patients with thyroid-associated ophthalmopathy. @*Methods@#Retrospective analysis was performed based on the medical records of 24 patients with thyroid-associated ophthalmopathy who underwent upper eyelid levator recession surgery between February 10, 2010, and September 18, 2018. The margin to reflex distance (MRD), length and area of the upper and lower eyelids were measured and compared with the eyelid analysis software before and after 6 months of surgery on medical records. In addition, factors affecting the difference in MRD1 before and after surgery were examined by multivariate linear regression analysis. @*Results@#Twenty-four patients were included in the study. The MRD1 decreased significantly from 5.12 ± 1.26 mm before surgery to 3.48 ± 1.08 mm at 6 months after surgery (p < 0.001). All upper eyelid measurements, i.e., UEL (p < 0.001), UMA (p < 0.001), UCA (p = 0.004), and ULA (p < 0.001), were significantly decreased after surgery, while none of the lower eyelid measurements showed significant changes. Multivariate logistic regression analysis indicated that lower preoperative MRD1 was associated with the success of the surgery (odds ratio, 0.31; 95% confidence interval, 0.09-1.01). @*Conclusions@#Levator recession surgery is an efficient surgical method that can correct the upper eyelid retraction associated with thyroid-associated ophthalmopathy.

Lamellar Corneal Graft Using Acellular Preserved Human Cornea for Perforated Anterior Scleral Staphyloma

Purpose@#To report a case of acquired perforated anterior scleral staphyloma treated successfully by lamellar grafting of the acellular preserved human cornea.Case summary: A 39-year-old male patient with anterior scleral staphyloma at the superior scleral area near the corneal limbus of the right eye which occurred after congenital cataract surgery visited our hospital due to bleeding and excessive tearing in his right eye. Slit lamp bio-microscopic examination revealed a Seidel-positive perforation with bleeding at the anterior scleral staphyloma. Under general anesthesia, conjunctiva was dissected from the scleral staphyloma. Amniotic membrane (AM) was transplanted over the perforated area and an acellular preserved human cornea (Halo; Eversight Inc., Palo Alto, CA, USA) was grafted over the AM. To aid the vascularization over the grafts, an advancement flap of the adjacent Tenon’s capsule was constructed. Thereafter, the recipient cornea was tattooed for cosmetic purposes. At 4 months postoperatively, the wound had stabilized without perforation recurrence, and staphyloma protrusion had improved. @*Conclusions@#In a case of a perforated anterior scleral staphyloma, restorative transplantation using acellular preserved human corneal tissue may be a good therapeutic alternative, given that the cornea is easy to suture, is thick enough to compress the protruding area, and has a low risk of graft stretching or melting compared with the sclera.

Lamellar Corneal Graft Using Acellular Preserved Human Cornea for Perforated Anterior Scleral Staphyloma

Purpose@#To report a case of acquired perforated anterior scleral staphyloma treated successfully by lamellar grafting of the acellular preserved human cornea.Case summary: A 39-year-old male patient with anterior scleral staphyloma at the superior scleral area near the corneal limbus of the right eye which occurred after congenital cataract surgery visited our hospital due to bleeding and excessive tearing in his right eye. Slit lamp bio-microscopic examination revealed a Seidel-positive perforation with bleeding at the anterior scleral staphyloma. Under general anesthesia, conjunctiva was dissected from the scleral staphyloma. Amniotic membrane (AM) was transplanted over the perforated area and an acellular preserved human cornea (Halo; Eversight Inc., Palo Alto, CA, USA) was grafted over the AM. To aid the vascularization over the grafts, an advancement flap of the adjacent Tenon’s capsule was constructed. Thereafter, the recipient cornea was tattooed for cosmetic purposes. At 4 months postoperatively, the wound had stabilized without perforation recurrence, and staphyloma protrusion had improved. @*Conclusions@#In a case of a perforated anterior scleral staphyloma, restorative transplantation using acellular preserved human corneal tissue may be a good therapeutic alternative, given that the cornea is easy to suture, is thick enough to compress the protruding area, and has a low risk of graft stretching or melting compared with the sclera.

Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3

Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.

Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report

Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provides not only sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to genetic diagnosis. Sequencing of genes with clinical relevance rather than whole exome sequencing might be more suitable for the diagnosis of known hereditary disease with genetic heterogeneity. Here, we present the clinical usefulness of CES for the diagnosis of hereditary spastic paraplegia (HSP). We report a case of patient who was strongly suspected of having HSP based on her clinical manifestations. HSP is one of the diseases with high genetic heterogeneity, the 72 different loci and 59 discovered genes identified so far. Therefore, traditional approach for diagnosis of HSP with genetic analysis is very challenging and time-consuming. CES with TruSight One Sequencing Panel, which enriches about 4,800 genes with clinical relevance, revealed compound heterozygous mutations in SPG11. One workflow and one procedure can provide the results of genetic analysis, and CES with enrichment of clinically relevant genes is a cost-effective and time-saving diagnostic tool for diseases with genetic heterogeneity, including HSP.