Characteristics, Etiologies, and Outcomes of Peripheral Ulcerative Keratitis in a Tertiary Referral Hospital in Thailand: A 10-Year Study.

PURPOSE: To evaluate characteristics, etiologies, and outcomes of peripheral ulcerative keratitis (PUK) in Thailand. METHODS: Retrospective study. RESULTS: Forty-three eyes from 34 patients were enrolled, with a mean age of 53.44 ± 15.48 years. PUK affected women more than men (1.6:1) and resulted in unilateral lesions more frequently than bilateral lesions (2.8:1). Redness (56.3%) was the most common presenting symptom followed by pain (43.8%) and irritation (40.6%). The three most common etiologies were Mooren's ulcer (52.9%), rheumatoid arthritis (20.6%), and Graves' disease (8.8%). Corneal thinning was significantly more common in unilaterality (p = 0.004) and less common when the lesion was located in the superior cornea (p = 0.031). Surgery was also more frequently performed in case of unilateral PUK (p = 0.026). Perforation was observed in 5 eyes (11.6%) and recurrence after treatment was identified in 8 eyes (18.6%). CONCLUSION: Nearly half of PUK cases are associated with several systemic causes. Accordingly, careful physical examination and investigation are important. Unilateral lesions could serve as potential risk factors in identifying patients at risk of thinning and perforation, which could prevent further damage to the eye and vision loss.

Surgical Treatment for Adult-Onset Limbal Xanthogranuloma: A Case Report with 4-Year Follow-Up.

Xanthogranuloma is a benign histiocytic disorder that generally appears in infants and children and often called juvenile xanthogranuloma (JXG). Typical reddish-yellow cutaneous papules or nodules are the most common presentation of JXG. Extracutaneous JXG affects eyes, brain, lungs, liver, spleen, and other sites. Isolated ocular manifestation without skin lesion is rare, especially in adult patients. Here, we report a case of a 27-year-old man who presented with gradually growing yellowish mass at the corneoscleral area of the left eye for 5 months. The patient had worn soft contact lenses for more than 10 years. With atypical age of onset and the absence of skin lesion, total mass excision with lamellar corneoscleral graft and amniotic membrane transplantation was done, and the diagnosis of adult-onset limbal xanthogranuloma was made by histopathological and immunohistochemical examinations. Postoperatively, the patient had good vision with corrected distant visual acuity of 20/30, and the graft was clear. There was no evidence of recurrence at 4-year follow-up. We found that excision with lamellar corneoscleral graft in limbal xanthogranuloma shows good result with no recurrence. The same result occurred to other previous cases reported, so complete excision with graft could be an effective treatment of choice in patient with limbal xanthogranuloma.

Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities.

BACKGROUND: Most transforming growth factor beta-induced (TGFBI) corneal dystrophies are associated with a characteristic phenotype, clinical course, and a conserved mutation in the TGFBI gene. However, we report a novel TGFBI missense mutation associated with a late-onset, variant Bowman layer dystrophy. METHODS: Participants underwent slit-lamp examination and multimodal imaging. Polymerase chain reaction amplification and Sanger sequencing were performed on saliva-derived genomic DNA to screen TGFBI exons 4 and 12 as well as COL17A1 exon 46. PolyPhen-2 and SIFT were used to predict the functional impact of any identified variants. RESULTS: A 56-year-old Thai woman reported a four-year history of decreased vision and intermittent eye irritation, suggestive of recurrent epithelial erosions, in both eyes. Slit-lamp exam revealed bilateral, irregular, limbal-sparing Bowman layer opacities, which were also noted on anterior segment optical coherence tomography. Phototherapeutic keratectomy was performed in the right eye, improving the best-corrected visual acuity from 20/50 to 20/30. Sequencing of the TGFBI gene revealed a novel heterozygous, missense mutation in exon 12 (c.1571 C > G; p.Ser524Cys), which was present in an affected son and absent in an unaffected son, and was predicted to be damaging by PolyPhen-2 and SIFT. The patient was diagnosed with a variant Bowman layer dystrophy given the late onset of an atypical phenotype and the identification of a novel TGFBI mutation. CONCLUSIONS: A novel TGFBI missense mutation is associated with a late-onset Bowman layer dystrophy. Given the atypical clinical appearance and course, molecular genetic analysis was utilized to establish a definitive diagnosis.

Classification of Limbal Stem Cell Deficiency Using Clinical and Confocal Grading.

PURPOSE: To grade the severity of limbal stem cell deficiency (LSCD) based on the extent of clinical presentation and central corneal basal epithelial cell density (BCD). METHODS: This is a retrospective observational comparative study of 48 eyes of 35 patients with LSCD and 9 eyes of 7 normal subjects (controls). Confocal images of the central cornea were acquired. A clinical scoring system was created based on the extent of limbal and corneal surface involvement. LSCD was graded as mild, moderate, and severe stages based on the clinical scores. The degree of BCD reduction was given a score of 0 to 3. RESULTS: Compared with BCD in controls, BCD decreased by 23.0%, 40.4%, and 69.5% in the mild, moderate, and severe stages of LSCD classified by the clinical scoring system, respectively. The degree of BCD reduction was positively correlated with larger limbal and corneal surface involvement and when the central visual axis was affected (all P ≤ 0.0005). Mean corrected distance visual acuity logarithm of the minimum angle of resolution was 0.0 ± 0.0 in control eyes, 0.2 ± 0.5 in mild LSCD, 0.6 ± 0.4 in moderate LSCD, and 1.6 ± 1.1 in severe LSCD (P < 0.0001). There was a significant correlation between a higher clinical score and corrected distance visual acuity logarithm of the minimum angle of resolution (rho = 0.82; P < 0.0001) and a greater decrease in BCD (rho = -0.78; P < 0.0001). CONCLUSIONS: A clinical scoring system was developed to assess the extent of clinical presentation of LSCD. A classification system to grade the severity of LSCD can be established by combining the BCD score with the clinical score.

Long-term outcomes of intended undercorrection intraocular lens implantation in pediatric cataract.

PURPOSE: To evaluate the postoperative refraction of intended undercorrection after intraocular lens (IOL) implantation in pediatric cataract patients. DESIGN: A cross-sectional study (data collected by retrospective chart review). PATIENTS AND METHODS: The medical records of children aged under 10 years, who underwent cataract surgery with IOL implantation at the Ramathibodi Hospital between January 2000 and May 2018, were reviewed. IOL power calculations were 30%, 25%, 20%, 15% and 10% under-corrected if children were aged 6-12, 13-24, 25-36, 37-48 and 49-60 months, respectively. Two diopters (D) undercorrection was used in children aged between 5 and 8 years and one diopter undercorrection was used in children aged between 8 and 10 years. The main outcome measure was the postoperative refractive errors at the last follow-up visit. RESULTS: In total, 50 children (21 females and 29 males, 16 unilateral and 34 bilateral, 84 eyes) met the inclusion criteria for this study. Mean age at the time of surgery was 77.82±31.24 months. Mean follow-up time was 56.56±45.83 months. The main outcome in this study was the postoperative refractive error in children aged 7 years or more. We found 74 eyes of 44 children who were aged 7 years or more at last follow-up visit. In total, 45 eyes were myopic (-0.25 to -8.25 D) with a mean refraction of -2.26±2.16 D. A further 21 eyes were hyperopic (+0.25 to +3.25 D), with a mean refraction of +1.05±0.79 D and eight eyes were emmetropic or having only astigmatism. CONCLUSION: The major postoperative refractive error at the last follow-up time was myopia. We have to adjust the IOL calculation formula to specify more undercorrection, with the aim of achieving more optimal refractive outcomes in adulthood.

Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family.

PURPOSE: To report the identification of the collagen, type XVII, alpha 1 (COL17A1) c.3156C>T mutation associated with epithelial recurrent erosion dystrophy (ERED) in a Thai family. METHODS: Slit-lamp examination was performed to determine the affected status of each member of a Thai family, with multiple members demonstrating scattered Bowman layer opacities. After genomic deoxyribonucleic acid (DNA) was isolated from saliva, polymerase chain reaction (PCR) amplification and Sanger sequencing were performed to screen COL17A1 and exons 4 and 12 of the transforming growth factor ß-induced gene. RESULTS: The 67-year-old proband and her 4 siblings were examined by slit-lamp biomicroscopy, which identified bilateral subepithelial opacities in the proband and in one of the 4 siblings. In both the proband and the affected sister, screening of the COL17A1 gene identified a heterozygous c.3156C>T synonymous mutation that has been previously demonstrated to introduce a cryptic splice donor site, likely leading to aberrant splicing of COL17A1. This mutation was not identified in the unaffected siblings, and no mutations were identified in exons 4 and 12 of the transforming growth factor ß-induced gene in any of the screened family members. CONCLUSIONS: ERED associated with a COL17A1 mutation has been previously reported in only 6 families, all white. Identification of the c.3156C>T mutation, previously identified in 5 of these 6 families, in the Thai family we report indicates conservation of the genetic basis of ERED across different races and underscores the importance of ophthalmologists around the globe being familiar with ERED, which has only recently become a recognized corneal dystrophy.

Characterization of the Corneal Subbasal Nerve Plexus in Limbal Stem Cell Deficiency.

PURPOSE: To quantify the changes in the subbasal nerve plexus in patients with limbal stem cell deficiency (LSCD) using in vivo laser scanning confocal microscopy. METHODS: In this retrospective cross-sectional comparative study, confocal images of 51 eyes of 37 patients with LSCD collected between 2010 and 2015 by the Heidelberg Retina Tomograph III Rostock Corneal Module Confocal Microscope were analyzed. Two independent observers evaluated the scans of the central cornea. Seventeen normal eyes of 13 subjects served as controls. Total subbasal nerve density (SND), density of long nerves (ie, nerves 200 µm or longer), and the degree of tortuosity were quantified. RESULTS: The mean (±SD) total SND and long nerve density were 48.0 ± 34.2 and 9.7 ± 10.9 nerves/mm, respectively, in all eyes with LSCD and 97.3 ± 29.9 and 35.3 ± 25.3 nerves/mm, respectively, in eyes of the control group (P < 0.001 for both comparisons). Compared with SND in control subjects, SND was reduced by 34.9% in the early stage, 54.0% in the intermediate stage, and 73.5% in the late stage of LSCD. The degrees of nerve tortuosity were significantly greater in patients with LSCD than in control subjects and differed among the early, intermediate, and late stages of LSCD. Reductions in total SND and long nerve density were positively correlated with the severity of LSCD. CONCLUSIONS: Reductions in total SND and long nerve density were accompanied by increases in nerve tortuosity in eyes with LSCD. These parameters could be used as quantifiable measures of LSCD severity.

Boston Type 1 Keratoprosthesis for Gelatinous Drop-Like Corneal Dystrophy.

PURPOSE: To report the outcomes of Boston type 1 keratoprosthesis in the management of advanced gelatinous drop-like corneal dystrophy (GDLD). METHODS: A retrospective, noncomparative, interventional case series was conducted at Ramathibodi Hospital, Bangkok, Thailand. Four eyes of three siblings with molecularly and histologically confirmed GDLD from a Thai family underwent an uneventful Boston type 1 keratoprosthesis implantation for visual rehabilitation. Clinical data were obtained from a review of the medical records. Visual acuity, device retention, and postoperative complications were the main outcome measures. The follow-up ranged from 8 to 96 months. RESULTS: One eye received keratoprosthesis surgery as a primary penetrating procedure. The other three eyes had the surgery as a secondary procedure after graft failure. Best-corrected visual acuity was favorably improved from counting fingers to 20/25 in two eyes, from hand movement to 20/20 in one eye, and from hand movement to counting fingers at 2 feet in one eye caused by severe amblyopia. The improved vision was maintained for 8 months to 6.2 years after surgery. Postoperative complications included disease recurrence in the donor graft (N = 3), manageable retroprosthetic membrane (N = 3), intraocular pressure elevation responded to antiglaucoma drugs (N = 2), and Pseudomonas keratitis with severe corneal melting requiring device removal (N = 1). All of our patients failed to have a comfortably well-fitting contact lens after surgery. CONCLUSIONS: Boston type 1 keratoprosthesis could be considered as a reasonable option in the management of advanced GDLD. However, patients remain at risk for sight-threatening postoperative complications as long as the keratoprosthesis is retained. The use of Boston keratoprosthesis implantation needed to be individualized on a case-by-case basis.