Novel CNNM4 variant and clinical features of Jalili syndrome.

The study identifies a non-consanguineous multigenerational family of the Lua ethnic group in Northern Thailand with three members affected with hypoplastic-hypocalcified amelogenesis imperfecta, cone-rod dystrophy, and harboring a novel homozygous missense variant, c.1475G>A p.(Gly492Asp), in CNNM4, indicating Jalili syndrome. We report features including advanced dental age, crossbite, developmental delay, expanding genotypic and phenotypic spectra of Jalili syndrome, and perform the prenatal genetic testing that helps avoid unnecessary pregnancy termination.

Corneal perforation after noncontact tonometry in patients with active recurrent herpes simplex keratitis: case report.

PURPOSE: To report iatrogenic complications and to review the potential complications caused by noncontact tonometry (NCT) in related literature. METHODS: This case report describes two cases of active recurrent herpes simplex keratitis (HSK) on top of a thin corneal scar. The cornea was perforated by the air pulse from the NCT, resulting in an air bubble in the anterior chamber. RESULTS: Both patients were diagnosed with active recurrent necrotizing stromal HSK on top of a thinned corneal scar after previous therapeutic treatment involving tissue adhesive glue with a bandage contact lens (BCL) to treat a perforated cornea. During a follow-up visit, both patients reported similar symptoms of acute pain and fluid exuding from their eyes immediately after undergoing NCT. Slit-lamp examination revealed a perforated cornea with an intracameral air bubble. Treatment involved use of tissue adhesive glue and BCL in both cases. CONCLUSION: NCT may not be sufficiently safe in patients with active infectious keratitis, particularly in cases where the cornea is relatively thin and necrotic.

Circular Perivascular Autofluorescence Pattern in Patients With Autoimmune Retinopathy.

Purpose: To report the characteristics and prevalence of a previously undescribed circular perivascular fundus autofluorescence (FAF) pattern in paraneoplastic and nonparaneoplastic autoimmune retinopathy. Methods: This retrospective case series used clinical and imaging data extracted from charts of patients with autoimmune retinopathy in whom FAF imaging was performed from the initial presentation to the last visit. Results: Six of 25 patients with autoimmune retinopathy and FAF imaging developed circular perivascular FAF changes. Three patients had paraneoplastic autoimmune retinopathy, and 3 had nonparaneoplastic autoimmune retinopathy. The lesions appeared a mean of 25 months after symptom onset; however, the timing varied from months to years and did not correlate with the overall disease course. The lesions were initially typically hyperautofluorescent and varied in progression, distribution, and quality. Optical coherence tomography showed hyperreflective subretinal deposits in the corresponding areas in most patients. Conclusions: To our knowledge, these are the first reported cases with this circular perivascular FAF pattern in nonparaneoplastic autoimmune retinopathy. This finding could also be a useful diagnostic imaging marker in some patients with autoimmune retinopathy.

Long-Term Clinical Course and Treatment Outcomes in Occult and Overt Acute Zonal Outer Retinopathy.

PURPOSE: To report the longitudinal outcomes for AZOOR patients including treatment response, imaging evolution, and overlap with multiple evanescent white dot syndrome (MEWDS). METHODS: Visual acuity (VA) and visual field (VF) outcomes of occult and overt AZOOR patients were retrospectively compared between the first and final visits as well as between the two AZOOR subtypes. For treated patients, rates of VA change and fundus lesion area were compared before and after treatment. Analyses were performed using STATA 17. RESULTS: Seventeen eyes from 11 occult AZOOR patients and 45 eyes from 29 overt AZOOR patients were included. In a composite VA/VF primary outcome, clinical improvement was noted in five occult AZOOR and three overt AZOOR patients. The decline of logarithm of the Minimal Angle of Resolution (logMAR) VA was minimal in both groups: 0.00016 units/month in occult AZOOR patients and 0.009 units/month in overt AZOOR patients (p = 0.94). Occult AZOOR patients were more likely to have improved or stable VF than overt AZOOR patients (p = 0.04). One occult AZOOR and two overt AZOOR patients developed MEWDS at subsequent visits. Treatment with steroids or immunomodulatory therapy (IMT) was initiated in one occult AZOOR patient and nine overt AZOOR patients. Treated patients had overall VA stability. Fundus lesion area in treated patients changed by a mean of 0.2831 mm2/month, with 40% of patients showing decreased lesion area. CONCLUSION: AZOOR patients generally maintained their VA. Overt AZOOR patients were more likely to receive steroids or IMT; treatment was associated with stabilization of VA.

Successful treatment of idiopathic retinal vasculitis with rituximab in two patients.

Purpose: To describe results of treatment of idiopathic retinal vasculitis with intravenous rituximab. Observations: We present two patients with idiopathic retinal vasculitis who required steroid-sparing therapy and achieved steroid-free remission with intravenous rituximab. Rituximab was used as a first-line steroid-sparing agent after steroids in one patient and as a second-line steroid-sparing agent in the other patient. Both patients achieved steroid-free remission of disease with follow up of at least one year after rituximab initiation. Conclusions and importance: Rituximab achieved steroid-free remission in two patients with idiopathic retinal vasculitis. It should be considered as a treatment option in these patients.

Quality of Life Outcomes Among Patients Being Screened for Cytomegalovirus Retinitis in Thailand.

PURPOSE: Cytomegalovirus (CMV) retinitis can have debilitating impacts on quality of life (QOL), but few contemporary studies have characterized these ramifications. This study assessed the impact of CMV retinitis on vision-related QOL for those living with HIV/AIDS in Thailand. METHODS: QOL was assessed as part of a prospective interventional cohort study of patients referred to a tertiary hospital in Thailand for CMV retinitis screening. A validated vision-related QOL questionnaire was administered at the baseline screening visit and at the 6-month study visit. Multivariable linear regression models were performed to determine the effect of CMV retinitis diagnosis on QOL score. RESULTS: A total of 152 participants completed the QOL questionnaire at their initial clinic visit. At baseline, a diagnosis of CMV retinitis diagnosis was significantly associated with decreased QOL score: unilateral retinitis was associated with a 0.11 (95% CI: -0.26-0.03) decrement in QOL, and bilateral retinitis was associated with a 0.33 (95% CI: -0.51-0.16) decrement (joint P-value = 0.0009). For the 78 participants with a 6-month visit, changes in QOL from baseline were small and not significant. A diagnosis of CMV retinitis was still associated with decreased QOL score at 6 months (joint P-value = 0.03). CONCLUSIONS: This study found that vision-related QOL was lower in those with CMV retinitis, especially with bilateral involvement, and did not improve after treatment among those with follow-up. These findings reinforce the debilitating clinical manifestations of this disease, and support efforts for earlier screening to detect CMV retinitis before impacts on QOL have occurred.

Intraocular foreign body: Characteristics, visual outcomes, and predictive values of ocular trauma score.

Introduction: Retained intraocular foreign body (IOFB) remains an important cause of acquired visual impairment. The visual prognosis following treatments for eyes with retained IOFB was observed to be distinct from other mechanisms of open globe injury due to the specific nature and associated circumstances. This study evaluated the risk behaviors, visual results, and predictive values of Ocular Trauma Score (OTS) in determining visual outcomes in patients with IOFB that were not related to terrorism. Methods: Medical records of patients who underwent surgical interventions between January 2015 and December 2020 were retrospectively reviewed. Results: A total of one hundred and sixty-one patients (162 eyes) were recruited. The patients had a mean (standard deviation) age of 47.6 (14.0) years with working male predominance (93.2%). The majority of patients were injured by activities related to grass trimming (63.4%) and metallic objects were the main materials causing injuries (75.7%). Following treatments, the proportion of eyes having vision worse than 20/400 decreased from 126 eyes (77.8%) to 55 eyes (33.9%) at final visit. Ocular trauma score (OTS) had a high potential prediction for final vision in eyes in OTS categories 4 and 5. However, the discordance of final visual acuity distribution was observed in some subgroups of eyes in OTS categories 1 to 3. Conclusion: This study highlights the significance of IOFB related eye injuries in a tertiary care setting. Decision making on treatments should be carefully considered, particularly in eyes in lower OTS categories, in light of a rise in the proportion of patients who experience improved vision after IOFB removal.

Comparison of Three Handheld Fundus Cameras for Assessment of the Vertical Cup-To-Disk Ratio.

Purpose To compare the quality of optic nerve photographs from three different handheld fundus cameras and to assess the reproducibility and agreement of vertical cup-to-disk ratio (VCDR) measurements from each camera. Methods Adult patients from a comprehensive ophthalmology clinic and an intravitreous injection clinic in northern Thailand were recruited for this cross-sectional study. Each participant had optic nerve photography performed with each of 3 handheld cameras: the Volk iNview, Volk Pictor Plus, and Peek Retina. Images were graded for VCDR in a masked fashion by two photo-graders and images with > 0.2 discrepancy in VCDR were assessed by a third photo-grader. Results A total of 355 eyes underwent imaging with three different handheld fundus cameras. Optic nerve images were judged ungradable in 130 (37%) eyes imaged with Peek Retina, compared to 36 (10%) and 55 (15%) eyes imaged with the iNview and Pictor Plus, respectively. For 193 eyes with gradable images from all 3 cameras, inter-rater reliability for VCDR measurements was poor or moderate for each of the cameras, with intraclass correlation coefficients ranging from 0.41 to 0.52. A VCDR ≥ 0.6 was found in 6 eyes on iNview images, 9 eyes on Pictor Plus images, and 3 eyes on Peek images, with poor agreement between cameras (e.g., no eyes graded as VCDR ≥ 0.6 on images from both the iNview and Pictor Plus). Conclusions Inter-rater reliability of VCDR grades from 3 handheld cameras was poor. Cameras did not agree on which eyes had large VCDRs.

High Positive Predictive Value of Fluorescein Angiography Contiguous, Perineural Retinal Vascular Leakage Pattern for Birdshot Chorioretinopathy.

PURPOSE: To determine the sensitivity and positive predictive value (PPV) of a contiguous, perineural retinal vascular leakage fluorescein angiography (FA) pattern in birdshot chorioretinopathy (BSCR) patients. METHODS: Patients with BSCR and other posterior uveitis/retinal vasculitis and a FA were identified. Two graders reviewed the first FA for leakage primarily around the optic nerve and along the larger arcade vessels. We compared the rates of this pattern in BSCR and non-BSCR patients and calculated sensitivity and PPV. We compared clinical characteristics of BSCR patients with and without this pattern. RESULTS: 64 BSCR and 98 non-BSCR patients were identified. The FA pattern's sensitivity, specificity, and PPV were 57.8%, 91.8%, and 82.2%. This pattern was significantly more common in BSCR patients earlier in their disease (p = .004). CONCLUSIONS: A contiguous, perineural retinal vascular leakage FA pattern can help identify potential BSCR patients for further testing. This pattern is more common closer to symptom onset.

Younger Age and Albuminuria are Associated with Proliferative Diabetic Retinopathy and Diabetic Macular Edema in the South Indian GeNetics of DiAbeTic Retinopathy (SIGNATR) Study.

Purpose: The purpose of the South Indian GeNetics of DiAbeTic Retinopathy (SIGNATR) Study is to identify non-genetic and genetic risk factors associated with diabetic retinopathy (DR). This report examines the non-genetic risk factors for DR in South Indian patients.Methods: Participants with South Indian ancestry and type 2 diabetes (T2D) were included from two sources: the Sankara Nethralaya Diabetic Retinopathy and Molecular Genetics Study (SN-DREAMS) and prospective recruitment at Sankara Nethralaya affiliates. Fundus photography and optical coherence tomography (OCT) were obtained on participants. Fundus images were graded for DR severity and OCTs were graded for center-involved diabetic macular edema (ciDME). Multivariate analyses were performed using stepwise logistic regression to assess effects of the demographic and clinical factors on proliferative DR (PDR) and DME.Results: Among the 2941 participants with DR grading, participants with PDR were more likely to be younger [odds ratio (OR)=0.95], men (OR = 1.83), have a longer duration of diabetes (OR = 1.10), have a higher hemoglobin A1c (OR = 1.12), have albuminuria (OR = 5.83), have hypertension (OR = 1.69), have a higher HDL (OR = 1.02) and a lower total cholesterol (OR = 0.99) (all p < 0.05). Among the 483 participants with gradable OCT scans, participants who had ciDME were more likely to be younger (OR = 0.97), men (OR = 2.80), have a longer duration of diabetes (OR = 1.06), have lower triglycerides (OR = 0.99), and have albuminuria (OR = 3.12) (all p < 0.05).Conclusions: Younger age, male sex, longer duration of diabetes, higher HbA1c, and presence of albuminuria were identified as risk factors for PDR and DME in a South Indian population with T2D.

Diagnostic accuracy of handheld fundus photography: A comparative study of three commercially available cameras.

The objective of this study was to compare the sensitivity and specificity of handheld fundus cameras in detecting diabetic retinopathy (DR), diabetic macular edema (DME), and macular degeneration. Participants in the study, conducted at Maharaj Nakorn Hospital in Northern Thailand between September 2018 and May 2019, underwent an ophthalmologist examination as well as mydriatic fundus photography with three handheld fundus cameras (iNview, Peek Retina, Pictor Plus). Photographs were graded and adjudicated by masked ophthalmologists. Outcome measures included the sensitivity and specificity of each fundus camera for detecting DR, DME, and macular degeneration, relative to ophthalmologist examination. Fundus photographs of 355 eyes from 185 participants were captured with each of the three retinal cameras. Of the 355 eyes, 102 had DR, 71 had DME, and 89 had macular degeneration on ophthalmologist examination. The Pictor Plus was the most sensitive camera for each of the diseases (73-77%) and also achieved relatively high specificity (77-91%). The Peek Retina was the most specific (96-99%), although in part due to its low sensitivity (6-18%). The iNview had slightly lower estimates of sensitivity (55-72%) and specificity (86-90%) compared to the Pictor Plus. These findings demonstrated that the handheld cameras achieved high specificity but variable sensitivities in detecting DR, DME, and macular degeneration. The Pictor Plus, iNview, and Peek Retina would have distinct advantages and disadvantages when applied for utilization in tele-ophthalmology retinal screening programs.

Clinic-Based Eye Disease Screening Using Non-Expert Fundus Photo Graders at the Point of Screening: Diagnostic Validity and Yield.

PURPOSE: The intent of this study was to determine the diagnostic accuracy of several diagnostic tests for age-related macular degeneration (AMD), diabetic retinopathy (DR), glaucoma, and cataract, as well as the proportions of patients with eye disease from each of 3 enrolling clinics. DESIGN: Diagnostic accuracy study. METHODS: Patients ≥50 years old in a diabetes, thyroid, and general medicine clinic were screened using visual acuity, tonometry, and fundus photography. Photographs were graded at the point-of-screening by non-ophthalmic personnel. Participants with positive screening test results in either eye and a 10% random sample with negative results in both eyes were referred for an in-person, reference-standard ophthalmology examination. RESULTS: Of 889 participants enrolled, 229 participants failed at least 1 test in either eye, of which 189 presented for an ophthalmic examination. An additional 76 participants with completely normal screening test results were referred for examination, of which 50 attended. Fundus photography screening had the highest yield for DR (sensitivity: 67%; 95% confidence interval [CI]: 39%-87%), visual acuity screening for cataract (sensitivity: 89%; 95% CI: 86%-92%), and intraocular pressure screening for glaucoma or suspected glaucoma (sensitivity: 25%; 95% CI: 14%-40%). The burden of disease was relatively high in all 3 clinics, with at least 1 of the diseases of interest (ie, AMD, DR, glaucoma or suspected glaucoma, or cataract) detected in 25% of participants (95% CI: 17-35%) from the diabeteses clinic, 34% (95% CI: 22%-49%) from the thyroid clinic, and 21% (95% CI: 13%-32%) from the general clinic. CONCLUSIONS: Non-expert eye disease screening in health clinics may be a useful model for detection of eye disease in resource-limited settings.

Contralateral Eye Involvement and Retinal Detachment in Patients with Cytomegalovirus Retinitis Treated with Intravitreous Ganciclovir.

Purpose: To determine the incidence of contralateral eye involvement and retinal detachment in HIV-infected patients with cytomegalovirus retinitis treated with repeated intravitreous ganciclovir.Methods: In a prospective cohort study in Northern Thailand, HIV-infected patients with cytomegalovirus retinitis were treated with antiretroviral therapy and intravitreous ganciclovir injections and followed for 3 months for contralateral cytomegalovirus retinitis and retinal detachment.Results: Of 49 participants with unilateral cytomegalovirus retinitis at enrollment, 7 developed contralateral eye involvement (4.8/100 person-months, 95% CI 1.9-9.8). Of 105 eyes without a retinal detachment at enrollment, 6 developed a retinal detachment (2.0/100 eye-months, 95% CI 0.7-4.3). Baseline clinical factors were not associated with the development of either outcome.Conclusion: Eyes treated with intravitreous ganciclovir experienced retinal detachment at a rate similar to other populations treated with systemic antivirals. The risk of contralateral eye involvement was relatively high during the first 3 months after initial diagnosis despite the institution of antiretroviral therapy.

Development of Acute Vogt-Koyanagi-Harada-like Syndrome during the Treatment Course with Vemurafenib for Metastatic Melanoma.

Purpose: To report on ocular Vogt-Koyanagi-Harada (VKH)-like syndrome under vemurafenib treatment for metastatic melanoma.Design: A case report.Method: Description of clinical and imaging manifestations including fundus photography, fluorescein, and indocyanine green angiography.Results: A 46-year-old Thai female was diagnosed with metastatic melanoma of the skin and had been treated with multiple surgical excisions, radiotherapy, and vemurafenib (initial dose 480 mg orally twice daily, subsequently increased to maximum dose of 960 mg twice daily). After 6 months of vemurafenib use, she complained of bilateral redness and photophobia and was diagnosed with bilateral anterior uveitis, which was topically treated. Two weeks later, her visual acuity (VA) sharply deteriorated to 20/80 and counting fingers. Ocular examination at that stage stronly resembled acute VKH disease. She exhibited intraocular inflammation, and her fundus examination revealed bilateral optic disc swelling and serous retinal detachment. Fluorescein angiogram showed disc leakage and multiple pinpoint hyperfluorescence leakage spots and indocyanine green demonstrated multiple hypofluorescent spots. Oral prednisolone 30 mg/day was commenced while vemurafenib medication was ceased. Three weeks later, her vision improved, and serous retinal detachment subsided. However, her cutaneous melanoma recurred.Conclusions: Vemurafenib, a potential adjunct treatment for metastatic melanoma, was complicated by the development of panuveitis, papillitis, and multiple serous detachments. These ocular symptoms were similar to the presentation of acute VKH syndrome.

Case Report: Bilateral Granulomatous Anterior Uveitis in HIV-patient with Disseminated Talaromycosis (penicilliosis) Marneffei Infection.

We report on a 22-years-old Thai male patient with congenital HIV infection. Due to his non-adherence to antiretroviral treatment he developed disseminated Talaromyces marneffei infection and was treated with intravenous amphotericin B. Despite this treatment, he presented with bilateral granulomatous anterior uveitis. Uveitis improved only after intracameral injection of amphotericin B.

Recovery of a Disinserted Medial Rectus Muscle after Pterygium Surgery.

PURPOSE: To report a case of recovery of a medial rectus which was accidentally disinserted after surgical treatment of a recurrent pterygium. METHOD: Report of a case of inadvertent medial rectus disinsertion after pterygium excision at a secondary care hospital which was referred to a tertiary care hospital in Northern Thailand. RESULT: A 40-year-old healthy woman was referred by a general ophthalmologist at a secondary care center to our hospital. She had undergone recurrent pterygium excision with amniotic membrane transplantation on the nasal side of her right eye. Immediately after the last operation, she complained of horizontal binocular diplopia. On the first postoperative day, the patient could not adduct the eye beyond the primary position. Her measurements in primary position were 45 prism diopters of right exotropia on distant and near. The diagnosis of iatrogenic medial rectus disinsertion was made. Three weeks after pterygium excision, revision surgery was performed; the medial rectus was found and reattached to its normal insertion site. On the first postoperative day, the patient referred a small vertical diplopia in the primary position. Orthoptic examination five months post-operatively demonstrated orthotropia and absence of diplopia in primary position, but minimal horizontal diplopia in right gaze. CONCLUSIONS: Accidental rectus muscle disinsertion after pterygium excision surgery is a serious but rare postoperative complication of pterygium surgery. Great care should be taken intraoperatively to avoid this complication. Reattachment of the disinserted medial rectus will produce a satisfactory resolution of the problem.

Clinical presentation and treatment outcomes of primary ocular adnexal MALT lymphoma in Thailand.

BACKGROUND: Primary ocular adnexal extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (POML) is the most common subtype of lymphoma involving the eyes in Thailand. We sought to assess the characteristics and treatment outcomes of patients with POML in Thailand. METHODS: We retrospectively reviewed patient data and included patients diagnosed with POML between January 2004 and December 2016 at Chiang Mai University Hospital and King Chulalongkorn Memorial Hospital, Thailand. We collected and analyzed patients' clinical characteristics and treatment outcomes. RESULTS: Among 146 patients with lymphoma involving the eyes, 121 (82%) were diagnosed with POML. Sixty-four (52.9%) were women with median age 58 (range, 22-86) years. The most common presenting symptom was orbital mass (71.1%). Common sites of origin were the orbit (46.3%) and lacrimal gland (34.7%). At presentation, 22.3% of patients had bilateral eye involvement. About half of patients had stage I disease (N=59, 56.2%) and 20% had stage IV. Most patients (73.3%) had a low-risk International Prognostic Index. Radiotherapy was the main treatment for patients with limited-stage disease (66.7% in stage I and 56.5% in stage II). The overall response rate was 100% with complete response rates 80%, 77.3%, and 64.7% for stages I, II, and IV, respectively. Five-year progression-free survival (PFS) and overall survival were 66.1% and 94.0%, respectively. For patients with limited-stage disease, radiotherapy significantly improved PFS compared with treatment not involving radiotherapy (5-year PFS 89.9% vs. 37.3%, P=0.01). CONCLUSION: We revealed that POML has good response to treatment, especially radiotherapy, with excellent long-term outcome.