Seeing beyond Gaucher disease: Early detection and treatment of ocular complications.

Background: Gaucher disease is a rare genetic disorder caused by a deficiency in the enzyme glucocerebrosidase, which impairs the body's ability to break down certain fats. This leads to the accumulation of glucosyl sphingosine and glucosyl ceramide in the liver, spleen, and bone marrow. Gaucher disease has two major types: nonneuropathic (Type 1) and neuropathic (Type 2 and Type 3). Gaucher disease can have various ophthalmologic manifestations, particularly in Type 3, including posterior segment abnormalities, such as vitreous opacities, condensations, and/or preretinal white dots. We present a case of a patient with Gaucher disease Type 3 who had severe bilateral vitreous and extensive retinal deposits, leading to challenges during surgery. Purpose: This video reports surgical outcomes for an uncommon ophthalmologic manifestation in a patient with Gaucher disease Type 3. We focus on the challenges and results of surgery for severe bilateral vitreous and extensive retinal deposits. Synopsis: A 16-year-old female patient with a history of Gaucher's disease since birth presented with a one-year history of blurred vision in both eyes. Her best-corrected visual acuity was 20/200 in the right eye and 20/100 in the left eye, as measured by Snellen's chart. Intraocular pressure was normal in both eyes, and anterior segment examinations were unremarkable. However, fundus evaluation revealed extensive vitreous deposits that obscured the details of the fundus. Additionally, an epiretinal membrane was observed over the macula in both eyes. Optical coherence tomography (OCT) confirmed the presence of deposits in the vitreous cavity and on the surface of the retina. The patient underwent pars plana vitrectomy with epiretinal membrane removal. A transconjunctival 23-G pars plana vitrectomy was performed to the extent possible. Multiple instruments were used to remove the fluffy vitreous deposits, as they were extremely adherent to the underlying surface of the retina, and brilliant blue dye was used to stain the internal limiting membrane. The epiretinal membrane and internal limiting membrane were removed from the macular area, and the entire cassette fluid was sent for histopathological examination to identify Gaucher cells. At one week postoperative, the patient's visual acuity improved to 20/125 in the right eye, and the fundus picture showed a cleared macular area. OCT showed a reduction in deposits over the retina. The histopathological examination revealed crumpled, barrel-like cytoplasm with an oval nucleus in a hemorrhagic background, suggestive of Gaucher cells. Highlights: Early detection and treatment of ocular manifestations of Gaucher's disease are important to prevent permanent damage to vision. An ophthalmological assessment involving a dilated fundus examination and optical coherence tomography can facilitate early diagnosis and follow-up of ocular manifestations. Timely surgery may be required to preserve functional vision in patients with severe ocular disease. Video Link: https://youtu.be/KR-kfgfDoqM.

Peering into the eye: A comprehensive look at ultrasound biomicroscopy (UBM) and its diagnostic value in anterior segment disorders.

Background: Ultrasound biomicroscopy (UBM) is a noninvasive imaging modality that enables in-vivo visualization of the structures of the anterior segment of the eye. Unlike routine ophthalmic diagnostic ultrasound which uses frequencies of 5-10 MHz, UBM utilizes ultrasound frequencies in the range of 50-100 MHz. The high-frequency probes in UBM allows for higher resolution and better visualization of subsurface ocular structures, even in the presence of anatomic or pathological obscuration. UBM has qualitative as well as quantitative applications in various disorders affecting the anterior segment of the eye. Despite its huge importance, many clinicians lack in knowledge about the technique and its clinical usefulness. The current educational video aims to address this gap in knowledge by highlighting the technique and various clinical indications of UBM. Purpose: The purpose of this video is to demonstrate the technique of UBM and showcase its quantitative and qualitative implications and importance through various clinical cases. Synopsis: UBM is an imaging technique that assesses the depth of tissue structures by measuring the time delay of the returning ultrasound signal. This modality is capable of measuring the size of various structures within the eye, such as the cornea, iris, ciliary body, sclera, and the depth of the anterior and posterior chamber. To perform a UBM, a transducer is inserted into a specially designed eye cup filled with distilled water, creating a water bath environment. Axial and longitudinal scans can be performed in a similar fashion as in routine diagnostic B-scan ultrasound. Quantitative indications for UBM depicted in this video include measurements of corneal thickness, depth of the anterior chamber, and the width of the angle. The video also showcases how UBM can aid in the diagnosis and management of various anterior segment disorders like angle-closure glaucoma, plateau iris configuration, secondary glaucoma, and anterior uveitis with complicated cataract. Qualitative indications for UBM highlighted in this video include its role in intermediate uveitis, ocular hypotony, ocular surface tumors, cystic lesions of iris, and identifying the location and type of intraocular foreign bodies in the anterior segment based on the type of artifact seen. Additionally, the video shows the applications of UBM in scleral and episcleral pathologies. Highlights: This video will educate clinicians about the technique of UBM and showcase a bouquet of UBM findings in various case scenarios, helping one to better understand the potential of this modality in clinical practice. Video link: https://youtu.be/F626TMbJXoU.

Using deep learning to detect diabetic retinopathy on handheld non-mydriatic retinal images acquired by field workers in community settings.

Diabetic retinopathy (DR) at risk of vision loss (referable DR) needs to be identified by retinal screening and referred to an ophthalmologist. Existing automated algorithms have mostly been developed from images acquired with high cost mydriatic retinal cameras and cannot be applied in the settings used in most low- and middle-income countries. In this prospective multicentre study, we developed a deep learning system (DLS) that detects referable DR from retinal images acquired using handheld non-mydriatic fundus camera by non-technical field workers in 20 sites across India. Macula-centred and optic-disc-centred images from 16,247 eyes (9778 participants) were used to train and cross-validate the DLS and risk factor based logistic regression models. The DLS achieved an AUROC of 0.99 (1000 times bootstrapped 95% CI 0.98-0.99) using two-field retinal images, with 93.86 (91.34-96.08) sensitivity and 96.00 (94.68-98.09) specificity at the Youden's index operational point. With single field inputs, the DLS reached AUROC of 0.98 (0.98-0.98) for the macula field and 0.96 (0.95-0.98) for the optic-disc field. Intergrader performance was 90.01 (88.95-91.01) sensitivity and 96.09 (95.72-96.42) specificity. The image based DLS outperformed all risk factor-based models. This DLS demonstrated a clinically acceptable performance for the identification of referable DR despite challenging image capture conditions.

Correlating the patterns of diabetic macular edema, optical coherence tomography biomarkers and grade of diabetic retinopathy with stage of renal disease.

PURPOSE: To correlate optical coherence tomography (OCT)-based morphological patterns of diabetic macular edema (DME), biomarkers and grade of diabetic retinopathy (DR) in patients with various stages of chronic kidney disease (CKD) secondary to diabetes. DESIGN: Multicentric retrospective cross-sectional study was conducted at seven centers across India. METHODS: Data from medical records of patients with DME and CKD were entered in a common excel sheet across all seven centers. Staging of CKD was based on estimated glomerular filtration rate (eGFR). RESULTS: The most common morphological pattern of DME was cystoid pattern (42%) followed by the mixed pattern (31%). The proportion of different morphological patterns did not significantly vary across various CKD stages (p = 0.836). The presence of external limiting membrane-ellipsoid zone (ELM-EZ) defects (p < 0.001) and foveal sub-field thickness (p = 0.024) showed a direct correlation with the stage of CKD which was statistically significant. The presence of hyperreflective dots (HRD) and disorganization of inner retinal layers (DRIL) showed no significant correlation with the stage of CKD. Sight threatening DR was found to increase from 70% in CKD stage 3 to 82% in stages 4 and 5 of CKD, and this was statistically significant (p = 0.03). CONCLUSION: Cystoid morphological pattern followed by mixed type was the most common pattern of DME on OCT found in patients suffering from stage 3 to 5 of CKD. However, the morphological patterns of DME did not significantly vary across various CKD stages. ELM-EZ defects may be considered as an important OCT biomarker for advanced stage of CKD.

Development of Diabetic retinopathy screening guidelines in South-East Asia region using the context, challenges, and future technology.

OBJECTIVE: To formulate guidelines for screening of diabetic retinopathy (DR) for the World Health Organization (WHO) South-East Asia Region (SEAR) aligned with the current infrastructure and human resources for health (HRH). DESIGN: A consultative group discussion of technical experts of the International Agency for the Prevention of Blindness (IAPB) from SEAR. PARTICIPANTS: IAPB country chairs and DR technical experts from SEAR countries. METHODS: Data related to DR in SEAR was collected from published literature on available DM and DR guidelines and the participating experts. The 10 SEAR countries (the Democratic Republic of Korea was not included for lack of sufficient data) were divided into 3 resource levels (low, medium, and high) based on gross national income/per capita, cataract service indicators (cataract surgical rate and cataract surgical service), current infrastructure and available HRH. Two countries each were assigned to low (Myanmar, Timor-Leste) and high resource (India, Thailand) levels, and the remaining 6 countries (Bangladesh, Bhutan, Indonesia, Maldives, Nepal, Sri Lanka) were assigned the medium resource level. The DR care system was divided into 3 levels of care (essential, recommended, and desirable) and 3 levels of service delivery (primary, secondary, and tertiary). MAIN OUTCOME MEASURES: Primary, secondary, and tertiary level guidelines for screening of DR. RESULTS: Nine WHO SEAR countries participated in the formulation of the new country-specific DR screening guidelines. The DR screening recommendations were: advocacy at the community level, visual acuity measurement, and non-mydriatic fundus photography at the primary level, comprehensive eye examination and retinal laser at the secondary level, and intravitreal therapy and vitrectomy at the tertiary level. The systemic care of DM and hypertension are recommended at all levels commiserating with their care capabilities. CONCLUSIONS: The DR guidelines for the SEAR region are the first region-specific and resource-aligned recommendations for comprehensive DR care in each country of the region. In the future, the new technological advances in retinal camera technology, teleophthalmology, and artificial intelligence should be included within the structure of the public DR care system.

Effect of COVID-19 Pandemic on Presentation of Patients With Diabetic Retinopathy in a Multitier Ophthalmology Network in India.

OBJECTIVE: This study aimed to describe the demographics and clinical profile of patients with diabetic retinopathy (DR) presenting during the novel coronavirus disease 2019 (COVID-19) lockdown and unlock phases in India. METHODS: This hospital-based cross-sectional study included patients presenting from March 25, 2019, to March 31, 2021. All patients who presented with DR were included as cases. The data were collected using an electronic medical record system. RESULTS: In total, 88,012 patients diagnosed with retinal diseases were presented to the network and included for analysis. There were 21,271 (24%) DR patients during the study period and the majority were men (71%) from the urban area (45%). An increasing number of patients with proliferative DR (56%), sight-threatening DR (79%), need for vitreoretinal procedures (31%), and intravitreal injections (19%) were seen during the lockdown (phase one-four). There was a significant increase in the number of patients with blindness in pre-lockdown (20%), lockdown (32%), and post-lockdown (26%). Patterns of sight-threatening DR and blindness were similar in both fresh and follow-up patients. CONCLUSION: The presentation of DR patients in hospital is evolving because of the COVID-19 pandemic. The footfalls of patients during the unlock (phase 1-10) regained to two-thirds of the pre-COVID-19 level. There was an increase in patients with sight-threatening DR and the need for vitreoretinal surgery and intravitreal injections during the lockdown (phase 1-4).

Training of nonophthalmologists in diabetic retinopathy screening.

The burden of diabetes mellitus (DM) and diabetic retinopathy (DR) is at alarming proportions in India and around the globe. The number of people with DM in India is estimated to increase to over 134 million by 2045. Screening and early identification of sight-threatening DR are proven ways of reducing DR-related blindness. An ideal DR screening model should include personalized awareness, targeted screening, integrated follow-up reminders, and capacity building. The DR screening technology is slowly shifting from direct examination by an ophthalmologist to remote screening using retinal photographs, including telescreening and automated grading of retinal images using artificial intelligence. The ophthalmologist-to-patient ratio is poor in India, and there is an urban-rural divide. The possibility of screening all people with diabetes by ophthalmologists alone is a remote possibility. It is prudent to use the available nonophthalmologist workforce for DR screening in tandem with the technological advances. Capacity-building efforts are based on the principle of task sharing, which allows for the training of a variety of nonophthalmologists in DR screening techniques and technology. The nonophthalmologist human resources for health include physicians, optometrists, allied ophthalmic personnel, nurses, and pharmacists, among others. A concurrent augmentation of health infrastructure, conducive health policy, improved advocacy, and increased people's participation are necessary requirements for successful DR screening. This perspective looks at the characteristics of various nonophthalmologist DR screening models and their applicability in addressing DR-related blindness in India.

Factors protecting against diabetic retinopathy in a geriatric Indian cohort.

PURPOSE: Diabetic retinopathy (DR) is a potentially sight-threatening complication of diabetes mellitus. The majority of cases are in older adults. This study aims to evaluate modifiable and nonmodifiable protective factors against DR in a geriatric Indian population. METHODS: This retrospective observational study uses data from a multitiered ophthalmology network to evaluate several demographic and clinical variables against diabetic retinopathy and visual acuity. RESULTS: Our data show that high myopia, the female sex, and no cataract surgery are associated with lower prevalence of DR (OR = 0.21, 0.65, and 0.76, respectively; P < 0.001). We also found that among those with DR, people categorized as payers, retirees, and those living in urban or metropolitan areas have better visual acuity (OR = 0.65, 0.65, 0.83, and 0.73, respectively; P < 0.001). Among those with DR, females, presence of cataracts, and no cataract surgery had lower associations with sight-threatening DR (STDR) (OR = 0.68, 0.37, and 0.76, respectively; P < 0.001). Prevalence of DR decreased in older age groups while controlling for DM duration. CONCLUSION: It is probable that high myopia, the female sex, and better glycemic control are protective against DR and STDR in our study cohort of adults over 60 years of age. It is possible that occupations involving manual labor, delayed cataract surgery, and living past the age of 70 are also protective against DR.

Trabeculectomy for neovascular glaucoma in proliferative diabetic retinopathy, central retinal vein occlusion, and ocular ischemic syndrome: Surgical outcomes and prognostic factors for failure.

PURPOSE: To evaluate the outcomes of trabeculectomy in the eyes with neovascular glaucoma (NVG), caused by proliferative diabetic retinopathy (PDR), central retinal vein occlusion (CRVO), and ocular ischemic syndrome (OIS). METHODS: A retrospective review of NVG eyes that underwent trabeculectomy between 1991 and 2019. Complete success was defined as intraocular pressure (IOP) between 6 and 21 mmHg without antiglaucoma medications (AGM). The risk factors were analyzed by Cox's proportional hazard model. RESULTS: The study included 100 eyes of 100 subjects with a mean age of 58 ± 9.8 years and a median follow-up of 1.27 years (interquartile range: 0.63, 2.27). The cause of NVG was PDR in 59 eyes (59%), CRVO in 25 eyes (25%), and OIS in 16 eyes (16%). Trabeculectomy with mitomycin-C was performed in 88 eyes and trabeculectomy in 12 eyes. The cumulative complete success probability of trabeculectomy in PDR was 50% (95% confidence interval [CI]: 38, 65) at 1 year, 8% (1, 46) at 3-5 years. In OIS, it was 64% (43, 96) from 1 to 5 years. In CRVO, it was 75% (59, 94) at 1 year, 45% (23, 86) from 2 to 5 years. The PDR was associated with a higher risk of surgical failure compared to OIS (P = 0.04) and CRVO (P = 0.004). Other significant risk factors were increasing age (P = 0.02), persistent neovascularization of iris (NVI) (P = 0.03), higher number of anti-vascular endothelial growth factor (VEGF) injections prior to trabeculectomy (P = 0.02), and delay in performing trabeculectomy (P = 0.02). CONCLUSION: Compared to CRVO and OIS, the eyes with NVG secondary to PDR had poor success with trabeculectomy. Older age, persistent NVI, need for a higher number of anti-VEGF injections, and delayed surgery were associated with a higher risk for trabeculectomy failure.

Tele-consultations and electronic medical records driven remote patient care: Responding to the COVID-19 lockdown in India.

Purpose: To describe the experience of tele-consultations addressed at the centre of excellence of a multi-tier ophthalmology hospital network in India during the ongoing novel coronavirus (COVID-19) lockdown. Methods: This cross-sectional hospital-based study included 7,008 tele-consultations presenting between March 23rd and April 19th 2020. A three-level protocol was implemented to triage the calls. The data of patient queries were collected using a Google Form/Sheets and the tele-calls were returned using the patient information retrieved from the electronic medical record system. Results: Overall, 7,008 tele-calls were addressed, of which 2,805 (40.02%) patients where a clinical-related query was answered were included for analysis. The most common queries were related to redness/pain/watering/blurring of vision (31.52%), closely followed by usage of medications (31.05%). The majority of the queries were directed to the department of cornea (34.15%), followed by retina (24.74%). Less than one-fifth of the patients were from the lower socio-economic class (16.08%) and one-fourth were new patients (23.96%). The most common advice given to the patient was related to management of medications (54.15%) followed by appointment related (17.79%). Emergency requests requiring further evaluation by an ophthalmologist accounted for a small percentage (16.36%) of patients. Conclusion: Tracking of tele-consultations and access to patient information from the electronic medical records enabled a timely response in an ongoing lockdown due to the COVID-19 pandemic. The current experience provided valuable insights to the possibility of managing patient follow-up visits remotely in the future.

Knowledge, attitude and practices on diabetes, hypertension and diabetic retinopathy and the factors that motivate screening for diabetes and diabetic retinopathy in a pyramidal model of eye health care.

INTRODUCTION: To report the results of a knowledge, attitude and practice (KAP) study related to diabetes mellitus (DM), hypertension and diabetic retinopathy (DR) of patient populations in India at different levels (Tertiary (T), Secondary (S) and Primary (P)) of a pyramidal model of eye health care. METHODS: In total, 202 participants, composed of equal numbers of diabetic and non-diabetic patients at a Tertiary urban facility (T), a Secondary rural facility (S) and a Primary (P) community-screening program, were surveyed on their knowledge, knowledge sources, attitudes, practices and factors that motivate use of eye health services. RESULTS: People with diabetes had a higher mean knowledge and attitude score about DM, hypertension and DR (67.3% T, 59.4% S, 47.0% P) than non-diabetics (41.8% T, 29.0% S, 23.5% P; p<0.001). Awareness of DR was more 65.3% among diabetics compared with 22.0% among non-diabetics at all locations. Most participants in all locations were aware of hypertension (84.0% T, 65.3% S, 52.9% P), but few knew it could affect the eyes (30.0% T, 12.2% S, 13.7% P) or be associated with diabetic complications (30.0% T, 32.7% S, 21.8% P). Many participants had never previously had a dilated eye examination (2% T, 40% S, 50% P). Participants were motivated to visit an eye facility for a routine checkup (70.6%), poor vision (22.6%) or a glucose/blood pressure test (17.7%) at a Primary-level facility and for follow-up or poor vision at the other facilities (28% and 42% Tertiary, 50% and 30% Secondary). CONCLUSION: Practice-oriented education and advertising of facilities tailored for the relevant populations at each level of an eye health pyramid and continuation of fundus, glucose and blood pressure screening programs can help in creating awareness about diabetes, hypertension and diabetic retinopathy.

25G PARS PLANA VITRECTOMY AND IRIDO-ZONULO-HYALOIDO-VITRECTOMY IN THE MANAGEMENT OF MALIGNANT GLAUCOMA IN PHAKIC EYES FOLLOWING TRABECULECTOMY.

PURPOSE: To describe a new surgical technique in the management of malignant glaucoma in phakic eyes. METHODS: We performed 25-gauge pars plana vitrectomy with anterior irido-zonulo-hyaloido-vitrectomy in 2 young phakic patients with malignant glaucoma after trabeculectomy. This technique allowed posteroanterior aqueous communication, relieved aqueous misdirection, helped restoring anterior chamber depth, normalized the intraocular pressure and most importantly helped to preserve the crystalline lens. RESULTS: At 8 months follow-up, both patients have stable visual acuity, normal intraocular pressure, well-functioning blebs, and clear crystalline lens. CONCLUSION: One can consider 25-gauge pars plana vitrectomy with anterior irido-zonulo-hyaloido-vitrectomy as a safe and effective treatment option for the management of malignant glaucoma in phakic eyes.

Treatment outcomes and clinicomicrobiological characteristics of a protocol-based approach for neonatal endogenous endophthalmitis.

PURPOSE: To describe the outcomes and clinicomicrobiological profile of 11 years of a protocol-based management in neonatal endogenous endophthalmitis. METHODS: This was a retrospective interventional study of endogenous endophthalmitis in 31 eyes of 26 neonates. The protocol for active infection included systemic antimicrobials, vitreous and/or aqueous tap, and intravitreal antimicrobials under topical or general anesthesia along with core vitrectomy in selected cases. Blood, urine, umbilicus, aqueous, and vitreous samples underwent microbiological evaluation. Retinopathy of prematurity screening and treatment were done when indicated. Primary outcome was anatomic status assessed by comprehensive eye examination and by fundus photography whenever possible. RESULTS: Twenty-one of 26 babies (81%) were preterm. Two types of presentations included those with a fulminant appearance (24 eyes) and those with focal retinitis detected during routine screening (7 eyes). Vitreous culture was positive in 12/20 eyes (60%). Pseudomonas aeruginosa (8) was the most common isolate. Incorrect initial diagnosis was common. Treatment included intravitreal injections in 26 eyes, 10 of which also underwent vitrectomy. Twenty-four of the 26 patients (92%) received parenteral antimicrobials and 17 had evidence of systemic infection. All eyes with a fulminant presentation developed phthisis, while all focal fungal cases were salvaged. CONCLUSIONS: Neonatal endogenous endophthalmitis has 2 distinct presentations. Focal retinal infections have good visual and anatomical outcomes while fulminant nosocomial cases do poorly. Management under topical anesthesia can be an alternative strategy for sick babies that cannot undergo surgery under general anesthesia due to systemic morbidity. Awareness about early diagnostic signs may help early referral.

LV Prasad Eye Institute Glaucoma Epidemiology and Molecular Genetic Study (LVPEI- GLEAMS). Report 1: study design and research methodology.

PURPOSE: In the developing world, more than 90% of glaucoma is undetected due to the lack of appropriate screening methods. The LV Prasad Eye Institute Glaucoma Epidemiology and Molecular Genetic Study (LVPEI-GLEAMS) is a population-based study which aims to estimate the prevalence of, along with clinical, systemic and genetic risk factors for glaucoma in a rural population sampled from the state of Andhra Pradesh, India. The study aims to develop community screening strategies to diagnose glaucoma. This article describes the methodology adopted in LVPEI-GLEAMS. METHODS: A sample of 3833 participants aged 40 years and older has been estimated to be enrolled using a compact segment sampling method with probability proportionate to size. Each participant will undergo a complete medical history and comprehensive eye examination including slit lamp photography, imaging of anterior and posterior segment, frequency doubling technology and standard automated perimetry. Additionally, glycosylated hemoglobin will be measured and a genetic profile based on candidate gene analysis will be undertaken. Clinical, biochemical and genetic data will be stored in a computerized database and analyzed. The novelty of this study lies in the fact that it is conducted at a vision center (primary eye care center serving a population of 50,000) by a vision technician (high school educated rural youth trained in basic ophthalmic techniques for a year). CONCLUSION: Information from the diagnostic techniques of the study will be used to develop effective community-level screening strategies, and insights from risk factors associated with glaucoma will help develop appropriate detection and management strategies.

Bilateral exudative retinal detachment as a presenting sign of acute lymphoblastic leukemia.

Acute lymphoblastic leukemia (ALL) can present with various ocular complications but exudative retinal detachment is a rare complication. A 36-year-old healthy young adult male presented with gradual decrease in the vision in both eyes over nearly 2 weeks. His best-corrected visual acuities were 20/50 and 20/25 at distance and N12 and N10 at near in the right and left eyes, respectively. Fluorescein angiography and optical coherence topography indicated bilateral exudative retinal detachment. Systemic workup revealed a marked increase in the number of white blood cells with 30% blast cells and immunophenotyping revealed common acute lymphoblastic leukemia-associated antigen (CALLA) positive precursor B-cell lymphoblastic leukemia. Cerebrospinal fluid (CSF) tap was negative. The patient started systemic chemotherapy and steroids. Bilateral exudative retinal detachment may be a presenting sign of acute lymphoblastic leukemiaALL in an otherwise healthy young adult. Clinicians should be aware of the possibility of leukemia in such patients. A simple blood investigation such as complete blood profile confirms the diagnosis.