Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding.

Mosaic Trisomy 8 is a rare chromosomal abnormality estimated to occur one in 30,000 newborns. The phenotype is highly variable and the severity does not appear to be correlated with the proportion of cells that contain the additional chromosome. Ocular involvement in Trisomy 8 mosaicism has previously been described to include corneal opacities, retinal dystrophy, coloboma, and unilateral microphthalmia. We report a case of severe bilateral microphthalmia in a neonate with Trisomy 8 mosaicism, a previously unrecognized ophthalmic manifestation.

Punctal and Canalicular Stenosis Following Topical 1% 5-Fluorouracil Eye Drop Therapy for Ocular Surface Squamous Neoplasia.

PURPOSE: To present the first known cases of punctal and canalicular stenosis following topical 5-fluorouracil (5-FU) eye drops for ocular surface squamous neoplasia (OSSN). METHODS: A retrospective chart review of patients with OSSN receiving topical 1% 5-FU eye drops as a primary or adjuvant treatment between 2013 and 2021 was performed. Individuals diagnosed with punctal or canalicular stenosis during or after topical 5-FU use were included in this study. Four individuals met these criteria; we report clinical findings and treatment course for each patient. RESULTS: We reviewed 303 patients (316 eyes) with OSSN. All patients were treated with topical 1% 5-FU eye drops in cycles, given 4 times daily for 1 week with 3 weeks off. Four patients (5 eyes) developed punctal stenosis, for a frequency of 1.3%. The mean age at 5-FU initiation in the 4 individuals was 61 years (range 53-69). Most individuals were male (75%), White (75%), and non-Hispanic (100%). The most common presenting symptom of stenosis was epiphora, noted 4.6 ± 3 months after initiating topical 5-FU (after 4.9 ± 2.0 cycles). This occurred in 4 eyes while on therapy (3, 2, 4, and 4 months since 5-FU initiation) and in 1 eye after stopping therapy (10.3 months since 5-FU initiation). In 1 eye, punctal stenosis and epiphora resolved spontaneously after stopping 5-FU. Punctal dilation led to symptom resolution in 2 eyes. Surgical intervention (punctoplasty and external dacryocystorhinostomy) was needed in 2 eyes for punctal and canalicular stenosis, respectively. CONCLUSIONS: Punctal or canalicular stenosis is a rare and previously unreported adverse effect of topical 5-FU that may require surgical treatment.

Composition of the gut microbiome, role of diet, lifestyle, and antioxidant therapies in diabetes mellitus and diabetic retinopathy.

The gut microbiome is a complex ecosystem in the gastrointestinal tract composed of trillions of bacteria, viruses, fungi, and protozoa. Disruption of this delicate ecosystem, formally called "dysbiosis", has been linked to a variety of metabolic and inflammatory pathologies. Several studies have focused on abnormal microbiome composition and correlated these findings with the development of type 2 diabetes mellitus (T2DM) and diabetic retinopathy (DR). However, given the complexity of this ecosystem, the current studies are narrow in design and present variable findings. Composition of the gut microbiome in patients with DR significantly differs from patients with diabetes without retinopathy as well as from healthy controls. Additionally, the gut microbiome has been shown to modify effects of medication, diet, exercise, and antioxidant use on the development and progression of DR. In this paper, we present a comprehensive review of literature on the effect of oxidative stress, antioxidant therapies, and dysbiosis on DR.

Therapeutic Response to Treatment of a Papillomatous Ocular Surface Squamous Neoplasia With Intramuscular Human Papillomavirus Vaccine.

PURPOSE: The purpose of this study was to describe the response of a papillomatous ocular surface squamous neoplasia (OSSN) to the intramuscular (IM) 9-valent human papillomavirus (HPV) vaccine after failed medical and surgical interventions. METHODS: A 79-year-old White man with a conjunctival lesion underwent a biopsy which revealed OSSN and positivity for high-risk HPV. Initially treated with medical therapy and surgical excisions, the patient developed a recurrence and refused further surgery. He was given 4 doses of IM HPV vaccine at the 6-week interval. RESULTS: A dramatic reduction in lesion size and reduced epithelial thickening and hyperreflectivity was noted on slitlamp examination and high-resolution anterior segment optical coherence tomography after receiving the IM HPV vaccine. Although lesion size was markedly reduced, the therapy did not achieve total resolution, resulting in further treatment with topical 1% 5-fluorouracil (5-FU) eye drops and later 0.04% mitomycin C eye drops. The patient then elected to discontinue further treatment and solely observe. CONCLUSIONS: This case report adds to the growing literature demonstrating the potential therapeutic use of vaccines in cancer treatment. Although HPV vaccination is currently approved for prophylaxis, the use of HPV vaccines as a therapeutic option for various HPV-mediated diseases, including OSSN, should be further explored. The HPV vaccine yielded significant initial improvement in this patient who refused further surgical interventions. The use of IM HPV vaccine as an adjunctive treatment of papillomatous OSSN may represent a potential therapeutic option in cases refractory to standard treatment modalities.

Conjunctival papilloma treatment outcomes: a 12-year-retrospective study.

BACKGROUND: Conjunctival papilloma is often resistant to treatment. Various therapies have been reported with no gold standard. The purpose of this study was to compare treatment outcomes after various therapies. METHODS: A retrospective chart review of 30 conjunctival papilloma patients from 2009-2020. Data on demographics, tumour characteristics, primary treatment and outcomes were collected. The primary outcome was the frequency of complete tumour resolution and recurrence rate of each primary therapy. The secondary outcome was treatment related side effects. RESULTS: The mean age was 57.5 years (3-93 years) with male predominance (n = 22, 73.3%). Eleven eyes were treated with interferon α-2b (IFN), seven with 5-fluorouracil (5FU), and 10 with excision biopsy and cryotherapy (6 with adjuvant therapy with IFN). The frequency of tumour resolution was 36.4% (4/11), 28.5% (2/7), and 100% (10/10) in each group, respectively. The mean time to resolution was faster in the surgical group compared to the medical group (1 day vs 159 days, p < 0.001). There was higher tumour recurrence with 11% in the surgical vs 0% in the medical group at 6 months and at 12 months, 22% recurrence in the surgical and 0% in the medical group (p = 0.52). However, the differences were not statistically significant. CONCLUSION: Papilloma resolution is faster with surgical excision as compared to medical therapy. However, recurrences are more frequent after surgical versus medical treatment.

Long term study of topical interferon α-2b eye drops as primary treatment of ocular surface squamous neoplasia.

PURPOSE: To assess the efficacy of topical interferon α-2ß(IFN) eye drops as a primary treatment for ocular surface squamous neoplasia(OSSN) and evaluate factors that impact response to treatment and recurrence of OSSN. METHOD: A retrospective study of 143 OSSN patients treated with topical IFN(1MIU/ml) from January 1998 to June 2021. The diagnosis was based on clinical examination and anterior segment optical coherence tomography, with histologic confirmation was present in 46.2% of patients. Data on demographic, tumor characteristics, treatment outcome, and side effects were collected. The primary outcomes were tumor resolution frequency and recurrence rate. Secondary outcomes were predictive factors for resolution and recurrence and side effects of treatment. RESULT: Participants were mostly older (mean age, 69 years, SD 12.9, range 29-97), white(89%) males (74%). Complete tumor resolution was achieved in 80.4% of individuals with a mean time to resolution of 4.2 months (SD 2, range 0.5-12.3 months). On multivariable analysis, history of skin cancer (HR: 0.66, p = 0.05, 95%CI: 0.44-0.99) and immune system abnormalities (HR: 0.37, p = 0.009, 95%CI: 0.18-0.79) reduced the risk of tumor resolution, while a prior history of OSSN (HR: 3.49, p < 0.001, 95%CI: 1.76-6.93) increased the risk of resolution. With a mean follow-up time of 44.3 months (SD 50.9, 0-290 months), the recurrence rate was 0%, 2.3% and 3.1% at 1, 2, and 5 years respectively. Mild hyperemia(18.9%) and pain(10.6%) were the two most common side effects. CONCLUSION: Topical IFN eye drops are a safe and effective primary treatment modality for OSSN with a reasonable side effect profile.

Topical 1% 5-fluorouracil eye drops as primary treatment for ocular surface squamous neoplasia: Long-term follow-up study.

PURPOSE: To determine the efficacy and safety of topical 1% 5-fluorouracil (5FU) eye drops as primary treatment of ocular surface squamous neoplasia (OSSN). METHODS: Patients were diagnosed with OSSN based on slit-lamp examination and anterior segment optical coherence tomography (AS-OCT). In ambiguous cases an incisional biopsy was performed. All were treated with 5FU eye drops as primary therapy and retrospectively reviewed. Data on demographics, tumor characteristics, treatment outcome, and side effects were collected. The primary outcome measures were resolution frequency and recurrence rate of OSSN. Secondary outcomes were risk factors for resolution and recurrence, and side effects of treatment. RESULTS: The mean age of 251 subjects (258 eyes) was 67.5 ± 11.7 years, 182 were male. Patients were followed up on average for 752 ± 580 days. Overall, 87% of patients experienced complete tumor resolution. Multivariable analysis revealed that superior tumor location (HR: 0.62, 95% CI: 0.41-0.93, p = 0.02) and leukoplakia (HR: 0.65, 95% CI: 0.41-0.93, p = 0.02), decreased the likelihood of tumor resolution. The recurrence rate was 4% at six months, 8% at one year, and 19% at two years. Larger tumor area increased chances of tumor recurrence (HR: 1.01, 95% CI: 1.00-1.02 p = 0.03). The most common side effects of 5-FU were mild hyperemia and pain, which occurred in 26% and 23% of patients, respectively. Among the sight-threatening side effects, limbal stem cell deficiency occurred in only 3% of patients. CONCLUSIONS: Topical 1% 5FU eye drops are a safe and effective medication for OSSN. Superior tumor location and leukoplakia decreased the chance of tumor resolution.

Anterior segment optical coherence tomography characteristics of conjunctival papilloma as compared to papilliform ocular surface squamous neoplasia.

PURPOSE: To describe the anterior segment optical coherence tomography (AS-OCT) appearance of conjunctival papilloma and identify differentiating features from papilliform ocular surface squamous neoplasia (OSSN). METHOD: A retrospective chart review of individuals clinically diagnosed with conjunctival papilloma (n = 10) or papilliform OSSN (n = 10) based on slit lamp features. Data on demographics, tumour characteristics, and primary treatment were collected. AS-OCT features were assessed including epithelial thickness and reflectivity, a corrugated epithelial surface, presence of an overhanging edge, presence of intrinsic spaces and posterior shadowing. Histopathology was available in 5 papilloma and 3 OSSN specimens. RESULT: Overall, the majority of individuals in both groups were white males. OSSN lesions were more likely to involve the limbus (80% vs.10%, p = 0.005) and the bulbar conjunctiva (100% vs. 20%, p < 0.001) compared to papillomas. On AS-OCT, maximum epithelial thickness was thicker in papilloma compared to OSSN (936 ± 533 vs. 637 ± 207 µm, p = 0.009). The feature that best differentiated papilloma from OSSN was an overhanging edge (100% vs. 0%, p < 0.001), where the epithelial lesion was seen on top of underlying normal epithelium. Other features more common in papilloma compared to OSSN included a corrugated epithelial surface (70% vs.10%, p = 0.02), the presence of intrinsic spaces (100% vs. 50%, p = 0.03), and posterior shadowing (100% vs. 40%, p = 0.01). CONCLUSION: AS-OCT shows differentiating features between papilloma and OSSN with an overhanging edge as a distinctive AS-OCT feature of papilloma.

Corneal topography and tomography readings with mask wear during the COVID-19 pandemic.

PURPOSE: To assess the effect of mask wear on corneal topography and tomography readings. SETTING: Tertiary ophthalmic center. DESIGN: Prospective, observational, comparative study. METHODS: Subjects underwent imaging with the Tomey TMS-4a topographer and the Oculus Pentacam HR tomographer. Imaging was performed without a mask, and then testing was repeated while wearing 3 different masks: Halyard Level 2, Halyard Level 3, and KN95. Measurements during mask wear were compared with measurements without a mask. The Kruskal-Wallis analysis of variance grouped test was used to compare mean differences without vs with mask wear on measurements. The Chi-square test was used to compare frequency of differences between different masks and against-the-rule vs with-the-rule astigmatism. The frequencies of clinically significant changes in axis of astigmatism, magnitude of astigmatism, and mean keratometry (K) values were calculated. RESULTS: 52 eyes were included in the study with a mean age of 34.71. Mask wear did not show statistically significant differences in mean topography and tomography measurements compared with without mask wear for all parameters. However, the majority, 53% (83/156) had a >10 degrees and 41% (64/156) had >15 degrees change in axis of astigmatism on topography when wearing a mask compared with no mask wear. CONCLUSIONS: Mask wear did not result in statistically significant mean changes in K readings on topography and tomography. However, the axis of astigmatism varied >10 degrees in most of the patients. Axis determination should be interpreted with caution regarding refractive surgery and/or toric intraocular lens planning in individuals whose measurements were obtained while wearing a mask.

Atypical Conjunctival Lesion as the Initial Presentation of Granulomatosis With Polyangiitis in an Adolescent Male.

PURPOSE: The purpose of this study was to report the first case of a conjunctival granulomatous lesion as the presenting sign of granulomatous polyangiitis (GPA) in a pediatric patient. METHODS: This study is a case report. RESULTS: A 14-year-old Hispanic boy presented with a conjunctival lesion on the inferior bulbar conjunctiva of the right eye associated with diffuse conjunctival injection. The mass progressively grew and became painful over the course of 6 weeks. No retinal or orbital abnormalities were noted on examination. The lesion was excised, and histopathological analysis was consistent with granulomatous inflammation. The lesion recurred after 15 months, and a second excisional biopsy was performed. The lesion again slowly recurred, and on presentation to our clinic, an elevated lesion in the inferior limbal/bulbar conjunctiva of the right eye was noted from 4 to 8 o'clock with accompanying forniceal shortening. Five months after the second excision, the patient developed flu-like symptoms with polyarthralgia. A full diagnostic workup revealed multiple pulmonary nodules on chest imaging, proteinuria on urinalysis, and a positive c-antineutrophil cytoplasmic antibody on serological studies. Based on these findings, the patient underwent a kidney biopsy which showed pauci-immune crescentic glomerulonephritis, consistent with a diagnosis of GPA. The patient achieved disease remission with rituximab. Despite treatment, the conjunctival lesion did not regress and remained unchanged in size for 3 years with periodic episodes of inflammation. CONCLUSIONS: This is the first documented case of a conjunctival mass as the initial presenting feature of pediatric GPA. The presence of granulomatous inflammation on histopathology and recurrences after excision should raise suspicion for GPA in children and adults.

Ophthalmological Approach for the Diagnosis of Dry Eye Disease in Patients with Sjögren's Syndrome.

Dry eye has two basic subdivisions: aqueous deficient dry eye (ADDE), with SS a major cause; and evaporative dry eye (EDE), due to either intrinsic or extrinsic factors. SS is a chronic inflammatory disorder defined by dysfunction of the exocrine glands leading to dry eye and dry mouth. The objective of this article was to carry out a systematic and critical review of several scientific publications on dry eye disease, with the aim of providing general recommendations to distinguish dry eye and its different variants in patients with SS, during the period 1979 to 2020, using search engines for articles indexed in Scopus, Latindex, Scielo, Clinical Trials, Medline, Embase, and Cochrane, allowing the analysis of 132 articles published in indexed journals on the subject of dry eye disease and SS, evidencing its conceptualization, prevalence, risk factors, etiopathogenesis, clinical manifestations, diagnosis, and treatment.

Vision Restoration: Cataract Surgery and Surgical Correction of Myopia, Hyperopia, and Presbyopia.

Cataract surgery is one of the most common surgical procedures performed in the United States. The decision to remove a cataract is determined by the patient's ability to perform activities of daily living, such as reading, driving, and watching television. Cataract surgery also offers the potential of spectacle independence with a wide array of premium intraocular lens options. In addition, with the continuing advances in ophthalmology, patients now also have the option of selecting between traditional approaches and femtosecond laser-assisted procedures. Cataract surgery continues to be an effective and ever-improving procedure for vision restoration.

Wright hang-back recession with fibrin glue compared with standard fixed suture recession for the treatment of horizontal strabismus.

OBJECTIVE: To evaluate the clinical safety and efficacy of the novel Wright hang-back recession with fibrin glue for the treatment of horizontal strabismus. STUDY DESIGN: Retrospective, case-controlled clinical study comparing surgical outcomes of the Wright hang-back rectus recession with fibrin glue (WHBG) versus standard fixed suture rectus recession (SFR). METHODS: Medical records of all patients who underwent strabismus surgery by one strabismus surgeon between 2016 and 2018 for horizontal deviations only, including cases of WHBG (group 1) or SFR (group 2), were reviewed. Good surgical outcome was defined as a postoperative deviation ≤10 prism diopters (PD) at a minimum 2 months of follow-up. RESULTS: 32 eyes of 17 patients underwent WHBG and 32 eyes of 17 patients underwent SFR; in each group, 35% had esotropia and 65% had exotropia. Mean preoperative deviations between groups were similar: esotropia 25.5 PD and exotropia 26.6 PD in WHBG; esotropia 28.3 PD and exotropia 23.8 PD in SFR. The mean postoperative deviation was <7 PD for both groups. Good surgical outcomes were similar between groups, 16/17 (94%) in WHBG and 15/17 (88%) in SFR, with no complications. CONCLUSIONS: WHBG was safe and effective with postoperative results similar to SFR. WHBG has an important advantage, eliminating the complication of retinal perforation that can occur with SFR while avoiding under- or overcorrection that can occur with traditional hang-back recession. This technique increases patient safety without sacrificing surgical outcomes and is especially useful in patients with thin sclera such as patients with high myopia or with difficult posterior exposure.

Management of ocular surface squamous neoplasia: Bowman Club Lecture 2021.

The gold-standard treatment for ocular surface squamous neoplasia (OSSN) has traditionally been surgical excision with wide margins and a no-touch technique. However, surgery may be associated with several unfavourable sequelae, as well as significant recurrence rates if margins are positive. In recent years, topical chemotherapy with 5-fluorouracil, interferon α-2b and mitomycin C have emerged as valuable agents capable of effectively treating OSSN with varying adverse effects. These medical treatment options usually present additional costs to the patient but can allow patients to avoid surgery with fewer long-term effects. Anterior segment high-resolution optical coherence tomography is an excellent tool for diagnosing and monitoring OSSN and can be a useful aid for both surgical and medical treatments of OSSN.

Chlorambucil combination therapy in refractory serpiginous choroiditis: A cure?

PURPOSE: To find a remedy for serpiginous choroiditis refractory to oral prednisone and chlorambucil treatment. OBSERVATIONS: Eight eyes of four patients (all female) with advanced macular involvement secondary to serpiginous choroiditis were included in the study. The average age of the patients was 45.2 years. One eye of each patient was legally blind and the lesion was close to the fovea in the other eye. All four patients failed oral prednisone and chlorambucil therapy. However, case 1 responded to chlorambucil treatment after intravitreal dexamethasone implant implantation and discontinuation of oral prednisone. Case 2 responded to chlorambucil therapy when oral prednisone was stopped in combination with infliximab therapy. Due to long follow-up period of more than four years, these two cases are considered to be cured. Case 3 and case 4 were not able to achieve remission with chlorambucil and immunomodulatory therapy. They refused intravitreal steroid implant due to side effects profile. CONCLUSIONS AND IMPORTANCE: The stability of WBC counts within toxic levels close to normal or lower limits of normal (3000-4500 cells/µl) during treatment with chlorambucil is an essential factor for the success of this therapy. A combination of dexamethasone intravitreal implant with chlorambucil therapy can be an effective and promising regimen in inducing and maintaining remission in refractory serpiginous choroiditis patients who fail a combination of systemic corticosteroid and chlorambucil therapy.

Silk Suture Granuloma 37 Years After Scleral Buckle Surgery: A Case Report.

PURPOSE: To present a rare presentation of pyogenic granuloma arising almost 4 decades after a scleral buckle for retinal detachment. METHOD: We describe the clinical presentation, diagnostic workup, and management of a suspicious conjunctival lesion in an immunocompromised patient. We report the histopathological findings and the postoperative outcome. RESULTS: A 58-year-old man with human immunodeficiency virus presented for evaluation of a possible malignant conjunctival lesion in the left eye. The patient reported that the lesion had appeared 1.5 months before presentation with significant growth over the past month. The patient denied any trauma to the eye other than an ocular history of retinal detachment repair with scleral buckle 37 years earlier. Clinical examination revealed a pink, fleshy, mobile, and lobulated conjunctival lesion measuring 7 mm by 10 mm, emanating from the superior-nasal bulbar quadrant. A high-resolution optical coherence tomography revealed highly cellular infiltrate and hyperreflective mass with significant posterior shadowing. Further exploration of the lesion revealed a white, stringy, cauliflower-like material on the underside of the lesion. Surgical excision and pathology subsequently confirmed a diagnosis of pyogenic granuloma with remnants of silk suture. CONCLUSIONS: A diagnosis of pyogenic granuloma secondary to retained silk sutures should be considered in patients with a history of intraocular surgery irrespective of other risk factors and length of time since procedure.

Complications after cosmetic periocular filler: prevention and management.

Soft tissue fillers are a mainstay in contemporary, minimally invasive facial rejuvenation procedures owing to timely results and minimal recovery period. Although associated with a low complication rate, soft tissue fillers are not without risk. Complications range from mild superficial skin irregularities to granuloma formation to vascular occlusion leading to skin necrosis or even blindness. Fillers vary in composition, elasticity, hydrophilicity and duration of effect that is tailored to specific cosmetic indications. Selecting the right product for the desired effect can cut down on unwanted outcomes. Severe adverse events can be avoided with safe injection technique, early recognition of symptoms and a thorough knowledge of the local anatomy. This review outlines several complications all providers should recognize and discusses strategies for their prevention and management.

Update on ocular cicatricial pemphigoid and emerging treatments.

Mucous membrane pemphigoid is a systemic disorder that primarily affects mucous membranes. When localized to the conjunctiva, it is known as ocular cicatricial pemphigoid, a potentially blinding disease. Ocular cicatricial pemphigoid is an indication for systemic immunosuppressive treatment to achieve adequate remission. Immunosuppressive agents are selected with a "stepladder" approach, commencing with medications having the fewest side effects. We provide an update of the literature on immunomodulatory agents since 2011 as additional treatment modalities have been explored in the last 4 years.