Association of 2 Lysyl Oxidase Gene Single Nucleotide Polymorphisms with Keratoconus: A Nationwide Registration Study.

Purpose: Keratoconus (KC) is the most common primary ectatic corneal disease, characterized by progressive thinning of the cornea, affecting its shape and structure and leading to visual loss. Lysyl oxidase is an important component of the extracellular matrix and contributes to the homeostasis of corneal stromal extracellular matrix via enzymatic reaction. This nationwide registration study aims to examine the association of KC with 2 known single nucleotide polymorphisms, rs2956540 and rs10519694, in a population of Iranian descent. Design: Case-control. Participants: One hundred seventy-eight subjects with KC and 180 clinically healthy subjects participated in the study. Methods: Genomic DNA was extracted from peripheral blood samples, and their genotypes were determined using tetra-primer amplification refractory mutation system-polymerase chain reaction. Main Outcome Measures: Allele frequency for rs2956540 and rs10519694. Results: Genotype frequency was significantly different between cases and controls for rs2956540 (P value = 0.019). The rs2956540 C allele carriers were significantly more frequent among KC cases than healthy controls (P valuechi-square = 0.015, P valueFisher exact = 0.017). There was a significant difference in genotype frequency between groups for rs10519694 (P value = 0.001). T allele carriers were significantly more frequent among KC patients (P valuechi-square = 0.002, P valueFisher exact = 0.001). Sex stratification revealed no significant differences in genotype frequency between males and females in cases and controls. Fitting the general linear model showed that rs10519694 could be considered a predictor for the development of KC (P value = 0.001); however, this was not observed for rs2956540 (P value = 0.323). Conclusions: rs2956540 and rs10519694 are associated with KC in a population of Iranian descent. rs10519694 could potentially be used for KC risk prediction.

Mini-Conjunctival Limbal Autograft (Mini-CLAU) Using Platelet-Rich Plasma Eye Drops (E-PRP): A Case Series.

PURPOSE: The purpose of this study was to introduce a new method of limbal stem cell transplantation using autologous platelet-rich plasma (E-PRP) eye drops for unilateral total limbal stem cell deficiency. METHODS: Patients with total unilateral limbal stem cell deficiency due to chemical burn underwent mini-conjunctival limbal autograft using autologous E-PRP drops. One small limbal block, measuring 2 × 2 mm, was harvested from the patients' contralateral healthy eye and transplanted to the diseased eye. All patients received E-PRP drops until achieving complete corneal epithelialization. Subsequent corneal transplantation was performed in eyes with significant stromal opacification. Corneal buttons obtained during corneal transplantation underwent immunohistochemistry for the evaluation of limbal stem cell markers (ABCG2 and P63). Visual acuity, epithelial healing, corneal clarity, and regression of corneal conjunctivalization/vascularization were evaluated after surgery. RESULTS: Ten patients with acid (n = 7) or alkali (n = 3) burn were included. The mean follow-up period was 21.7 ± 5.8 months (range, 12-32 months). Corneas were completely reepithelialized within 14.9 ± 3.5 days (range, 11-21 days). Corneal conjunctivalization/vascularization dramatically regressed 1 to 2 months after surgery in all cases, and corneal clarity considerably improved in 7 patients. In the 3 eyes with significant stromal opacification, subsequent optical penetrating keratoplasty was performed. The ocular surface was stable throughout the follow-up period in all eyes. BSCVA improved to 0.60 ± 0.0.32 and 0.46 ± 0.0.25 logMAR in eyes with and without corneal transplantation, respectively, at the final follow-up visit. ABCG2 and P63 markers were detected on corneal buttons after keratoplasty. CONCLUSIONS: Based on our clinical and laboratory findings, mini-conjunctival limbal autograft using E-PRP can be considered as a promising alternative to ocular surface reconstruction.

Bilateral Keratomalacia From Vitamin A Deficiency in Pancreatic Insufficiency.

While vitamin A deficiency is a leading cause of blindness globally, it is uncommon in the developed world. Here we describe the unique presentation of a young man in the United States with keratomalacia from vitamin A deficiency related to pancreatic insufficiency. The patient presented with bilateral blurry vision that persisted for two weeks, significant unintentional weight loss, orthostatic hypotension, and profuse diarrhea. Upon slit-lamp examination, bilateral corneal opacities were appreciated. After completing additional testing, it became clear that the patient's corneal opacities were related to vitamin A deficiency from pancreatic insufficiency.

Late Subconjunctival Emphysema in an Unrepaired Orbital Floor Fracture.

A 42-year-old gentleman with a history of a left orbital floor fracture four years prior presented to the emergency department following a motor vehicle collision. He was without subjective eye concerns, although a physical examination revealed a superior temporal subconjunctival mass with crepitus of the left eye. Visual acuity was 20/20 bilaterally, pupils were reactive without a relative afferent pupillary defect, and extraocular movement was fully intact. A computed tomography scan of the face revealed left-sided subconjunctival, subcutaneous, and orbital emphysema determined to be associated with a previous orbital floor fracture. With no other medical concerns requiring immediate treatment, the patient was offered outpatient repair of the old orbital floor fracture.

Comparison of Outcomes of Glaucoma Screening in Primary Care and Community Settings.

Purpose: To compare outcomes of glaucoma screening in primary care and community settings, including the follow-up rates of subjects with positive screening results. Methods: This was a comparative, prospective, non-randomized study. Subjects were recruited by medical students in community-based and primary care settings and screened for glaucoma using the same screening strategy. Results: Two hundred and fifteen total patients were screened, 117 in community settings and 98 in primary care settings. Positive screenings were seen in 34% of patients in the community setting group (n = 40) and 40% of patients in the primary care setting group (n = 39). Of the patients who screened positive, 74% completed their initial follow-up appointment in the primary care setting group compared with 47.5% in the community-based setting group (p = .015). In the primary care setting, 18% were lost to follow up compared with 42.5% in the community-setting (P = .018). African-Americans were more likely to follow-up (P = .025) and less likely to be lost to follow-up (P = .033) in the primary care setting compared with the community-based setting. Conclusion: Patients with a positive glaucoma screening result in a primary care setting are more likely to follow up than those in a community-based setting.

Isolated left upper eyelid ptosis with pansinusitis and contralateral otitis media in a 9-year-old boy.

PURPOSE: Upper eyelid ptosis has different etiologies in children and adults. In children, the common causes include orbital cellulitis, congenital ptosis, Cranial Nerve (CN) III palsy, and Horner's syndrome. The purpose of this report is to discuss an unusual presentation of ptosis. OBSERVATIONS: We describe a case of a 9-year-old boy with left-sided ptosis with no apparent clinical signs of orbital or preseptal infection. Magnetic resonance imaging (MRI) revealed pansinusitis and contralateral otitis media with direct extension into the superior aspect of the left orbit affecting the levator palpebrae superioris muscle. CONCLUSIONS AND IMPORTANCE: This finding on imaging disclosed the etiology of an otherwise unexplained case of upper lid ptosis.