Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.

MYRF monoallelic variants have been described in syndromic forms characterized by cardiac-urogenital syndrome and isolated nanophthalmos with/without minor systemic manifestations. We describe a large family with a paternally inherited pathogenic variant in MYRF that manifested as congenital diaphragmatic hernia (CDH), cardiac and urogenital abnormalities, and/or nanophthalmos with significant intrafamilial variability.

Effect of integrated people-centred eye care (IPEC) model on eye care seeking behaviour of community.

Background: World report on vision makes integrated people-centered eye care as care model of choice. Integrating eye care with the existing public health system makes services available, accessible, affordable, and sustainable. Being from the community, Accredited Social Health Activists (ASHAs) are better suited to improve people's eye health-seeking behavior. Objectives: This study aims to assess the eye care-seeking behavior of community and to understand their response toward the approach of integrated vision centers (VC) with ASHA involvement. Methods: A cross-sectional descriptive study was conducted in South Delhi district where integrated VC were functional for more than a year. These centers were supervised by medical officer in-charge, under whom ophthalmic assistants, ASHAs, auxiliary nurse midwives, and pharmacist work. ASHAs were trained in community-based primary eye care. The community survey was conducted on eye health-seeking behavior and utilization of VC services. Descriptive statistics were used for data analysis. Results: Out of 1571 study participants, 998 reported any ophthalmic illness in family in the past 6 months as against 1302 who reported nonophthalmic illness in family. The majority (1461, 90%) were aware about integrated VC and half of them (748, 51.2%) visited it. Of them, 64.2% were motivated through ASHAs. ASHAs spread awareness about eye diseases, eye treatment facility, and referred patients from the community. The majority (93%) were happy with the integrated VC and 87.8% were happy with ASHAs. Conclusion: Integrated VC with ASHA engagement could pave the way for universal eye health. Understanding people's needs and engaging community would increase the demand for eye care.

Trichostatin A mitigates radiation-induced teratogenesis in C57Bl/6 mice.

Radiation exposure in utero is known to lead to serious concerns to both the mother and children, including developmental anomalies in the children. In the recent past, trichostatin A, an HDAC (histone deacetylase) inhibitor and epigenetic modifier, has been shown to mitigate radiation-induced anomalies in the male reproductive system of C57BL/6 mice. Therefore, the current study was undertaken to evaluate the mitigating effects of trichostatin A (TSA) against radiation-induced developmental anomalies in mice. Foetuses of in utero whole-body gamma-irradiated mice during the active organogenesis period were examined for developmental anomalies at 8.5 and 18.5 days of gestation. In utero radiation exposure caused developmental anomalies like microcephaly, microphthalmia, gastroschisis and kinky tail besides prenatal mortality. TSA administration post-irradiation was observed to reduce 50% of prenatal mortality at E18.5 by reducing congenital and developmental anomalies. Observation of such results could be corroborated with the HDAC inhibitory potential of TSA knowing that developmental anomalies may have epigenetic origin. TSA, therefore, can be considered as a potential radiomitigator.

Outcomes of surgical interventions for the treatment of limbal stem cell deficiency.

Background & objectives: In the current scenario, with availability of different surgical procedures for limbal stem cell deficiency (LSCD), there exists no common consensus as to the standardization of the management protocol for the same. In addition, there also exists diversity in the views about the clinical diagnosis, ancillary investigations and clinical parameters. The objective of the present study was to evaluate the reported outcomes of surgical interventions for the management of LSCD. Methods: A systematic review of published literature on limbal stem cell transplantation (LSCT) was performed using Ovid Medline, Embase and PubMed for a duration of 2009 to 2019. Original studies including prospective, retrospective case series and randomized controlled trials, articles in English language, articles with access to full text and studies with more than or at least 10 patients were included in this review. Data related to clinical and visual outcomes were evaluated, and pool estimates of different surgeries were calculated using random-effects model and individually using Pearson's Chi-square test. Results: A total of 1133 abstracts were evaluated. Finally, 17 studies were included for the analysis. Among these 17 studies, direct limbal lenticule transplantation was performed in five studies, of which autologous tissue from the fellow eye [conjunctival limbal autograft (CLAU)], allograft from a cadaver/live donor [keratolimbal allograft (KLAL)/conjunctival limbal allograft (CLAL)] and combination of CLAU plus KLAL were done in one, three and one studies, respectively. The ex vivo expanded cultivated limbal epithelial transplantation (CLET) was reported in six studies and simple limbal epithelial transplantation (SLET) in four studies. Two were comparative studies comparing CLET and CLAL (living-related CLAL) with cadaveric KLAL, respectively. Outcome analysis of the included studies showed significant heterogeneity. Calculated pool rate for various types of surgeries was calculated. The pool estimate for CLAL was 67.56 per cent [95% confidence interval (CI), 41.75-93.36; I2=83.5%, P=0.002]. For KLAL, this value was 63.65 per cent (95% CI, 31.38-95.91; I2=92.4%, P=0.000). Pool estimate for CLET was 78.90 per cent (95% CI, 70.51-87.28; I2=73.6%, P=0.001). Corresponding values for SLET were 79.08 per cent (95% CI, 74.10-84.07; I2=0.0%, P=0.619). CLAU and combination of CLAU plus KLAL were done in one study each; hence, statistical analysis could not be done. The functional outcome in terms of gain in visual acuity post-operatively was better in KLAL (P<0.005) and SLET group as compared to CLET group. Interpretation & conclusions: The present analysis suggests that though the anatomical success rates were almost identical between SLET, CLET, CLAL, and KLAL procedures, the functional success rates were better following KLAL and SLET procedures as compared to CLET. Decision for LSCT for cases of ocular burns based on either clinical judgement of the surgeon or individual diagnosis remains a suitable option.

Barriers to treatment-seeking for impairment of vision among elderly persons in a resettlement colony of Delhi: A population-based cross-sectional study.

Background & objectives: Uncorrected refractive error and cataract are the two most common causes of impairment of vision among elderly persons, and both are treatable. Treatment-seeking in patients is driven by symptom (decreased vision) rather than any anatomical or physiological measurement. The objective of this study was to evaluate the treatment-seeking behavior and barriers to treatment-seeking among elderly persons with impairment of vision in an urban resettlement colony of New Delhi, India. Methods: This community-based, cross-sectional study was conducted among 604 persons aged ≥60 yr selected by the simple random sampling. House-to-house visit was done, and a self-developed pretested semi-structured interview schedule was used to collect socio-demographic information, treatment-seeking behaviour and barriers to treatment-seeking. Results: Majority of participants reported impairment of vision (84%); 16.5 per cent of them did not visit any healthcare facility for their vision problem. Lack of felt need (48.1%) was the most common barrier to visiting healthcare facility. Of the 401 participants who gave a history of being prescribed spectacles, 277 (69%) used spectacles. Discomfort, lack of improvement in vision and lack of felt need were the most common reasons cited for non-usage. Among 300 participants who gave a history of cataract, 61 (20.3%) had not undergone cataract surgery. Lack of felt need was the most common barrier to cataract surgery. Interpretation & conclusions: A substantial proportion of elderly persons in the urban community have impairment of vision. Lack of felt need was the main reason for not visiting healthcare facility. As quality of spectacles was an important reported deterrent to use of spectacles, provision of appropriate refraction services and low-cost, good quality spectacles would be important.

Corneal transplantation in the modern era.

Corneal blindness is one of the major causes of reversible blindness, which can be managed with transplantation of a healthy donor cornea. It is the most successful organ transplantation in the human body as cornea is devoid of vasculature, minimizing the risk of graft rejection. The first successful transplant was performed by Zirm, and since then, corneal transplantation has seen significant evolution. It has been possible because of the relentless efforts by researchers and the increase in knowledge about corneal anatomy, improvement in instruments and advancements in technology. Keratoplasty has come a long way since the initial surgeries wherein the whole cornea was replaced to the present day where only the selective diseased layer can be replaced. These newer procedures maintain structural integrity and avoid catastrophic complications associated with open globe surgery. Corneal transplantation procedures are broadly classified as full-thickness penetrating keratoplasty and partial lamellar corneal surgeries which include anterior lamellar keratoplasty [sperficial anterior lamellar keratoplasty (SALK), automated lamellar therapeutic keratoplasty (ALTK) and deep anterior lamellar keratoplasty (DALK)] and posterior lamellar keratoplasty [Descemet stripping automated endothelial keratoplasty (DSAEK) and Descemet membrane endothelial keratoplasty (DMEK)] broadly.

Use of spectacles for distance vision: coverage, unmet needs and barriers in a rural area of North India.

BACKGROUND: Uncorrected refractive errors contribute enormously to the burden of avoidable visual impairment worldwide. There is a huge disparity in different parts of the globe in context to spectacle coverage for distance vision. This study was undertaken with objectives of determining prevalence of spectacle coverage, unmet needs and associated factors among adults in a rural community of north India. METHODS: A community-based cross-sectional study was carried out within selected clusters of Jhajjar district of Haryana. All participants aged > 15 years underwent visual acuity assessment by LogMAR "E" screening chart. Participants with presenting visual acuity < 6/12 in any eye and all current spectacle users underwent detailed ophthalmic examination and refraction. Additional details about spectacles, barriers for their use and willingness to pay for them were collected. Participants with met and unmet need for spectacle use at visual acuity > 6/12 was computed. These are reported as proportions with 95% confidence intervals. Associated factors with unmet need were determined using bivariable and multivariable logistic regression analysis. RESULTS: A total of 6910 participants were examined. The current spectacle use was 7.5% (95% Confidence Interval CI: 6.5, 8.7). The spectacle coverage was found in 33.3% (95% CI: 30.0, 36.7) participants among those in need. The unmet need was found in 10.8% of participants (95% CI: 10.1, 11.6). On multivariable analysis, odds of unmet need was associated with age, gender, level of education and marriage status. The most common barrier for refractive correction was lack of perceived need for refraction and its correction. CONCLUSION: There is substantial unmet need for distance vision spectacles in this population. It is imperative that multi-component intervention be implemented to improve spectacle coverage in this rural north Indian setting.

Knowledge and attitude towards eye donation among health professionals of northern India.

Background: We aimed to assess the knowledge and attitude of health professionals towards eye donation at an apex tertiary care centre of northern India. Methods: We interviewed 600 health professionals, comprising doctors, nurses, medical as well as nursing students, social workers and allied paramedical staff. A structured questionnaire (12 questions for assessing knowledge and 5 questions for assessing attitude) was used to estimate the awareness of eye donation and willingness to pledge eyes for donation. The responses pertaining to knowledge were graded as 'excellent', 'good' and 'poor' and those pertaining to attitude were grouped into 'positive' and 'negative'. Results: Of the 600 participants, 138 participants (23%) had 'excellent' knowledge and 234 participants (39%) had 'good' knowledge about eye donation. Awareness of eye donation was positively related to the level of literacy (odds ratio [OR] 8.5 [2.30-31.2]; p<0.001). Medical social workers and health supervisors had better knowledge about eye donation (OR 2.01 [1.08-3.72]; p=0.026) than other professional groups. Knowledge of eye donation had no significant association with age, gender, religion, family type and marital status of the respondent. Willingness to pledge eyes for donation was observed in only 6% of the participating health professionals. Pledging of eyes for donation was higher among older participants (OR 7.8 [2.67-22.77]; p<0.001). Conclusion: Our study shows that there is sufficient knowledge about eye donation, but an alarmingly low willingness to pledge eyes for donation among health professionals. Concerted efforts are required to alter their attitude to strengthen the Hospital Cornea Retrieval Programme.

Diabetic retinopathy screening programme utilising non-mydriatic fundus imaging in slum populations of New Delhi, India.

OBJECTIVES: To develop and implement a community-based programme for screening of diabetic retinopathy (DR) in urban populations of Delhi. METHODS: Known diabetics (KDs) aged 40 years and older were identified through house-to-house surveys, volunteers and publicity. All KDs were referred to DR screening camps organised locally where procedures included brief medical history, ocular examination and non-mydriatic fundus photography using portable handheld camera. Fundal images were graded on the spot by trained optometrists for DR. Patients with DR were referred to tertiary centre for management. RESULTS: A total of 11 566 KDs were identified, of whom 9435 (81.6%) visited DR screening camps and 8432 (89.4%) had DR gradable images. DR was identified in 13.5% of subjects; 351 cases were mild NPDR, 567 moderate, 92 severe. Seventy-seven had PDR, and 49 had DME, and 2.7% of participants were blind (presenting visual acuity <3/60 in better eye). Non-use of lifestyle management, presence of systemic complications, BMI <18.5 kg/m2 , disease duration of >5 years and uncontrolled diabetes were associated with increased odds of DR. All cases with DR were referred, and 420 (37%) successful referrals to base hospital were observed. CONCLUSION: The programme of creating awareness about DR, identifying KDs and optometrist-led DR screening using non-mydriatic fundus camera based in slums was successful.

Eye donation and eye banking in India.

Corneal blindness is a priority condition under the National Programme for Control of Blindness and an important cause of avoidable blindness in India. A multipronged approach is needed to eliminate corneal blindness. Curable or treatable blindness requires a spectrum of care including medication, optical rehabilitation and corneal transplantation. Corneal transplantation is dependent on the availability of safe, donor eyes; however, there is scarcity of donor corneal tissues in India. To improve the eye banking system, the Government of India supports eye banks through recurring grants for operational costs and non-recurring grants for infrastructure costs. Strategic interventions by the government and non-governmental organizations include awareness by health promotion and education, community participation, sustainable source of donor cornea, quality medical standards, accreditation and endeavours to strengthen eye banking systems and procedures through training and research. A model eye banking system in India can be achieved only when it is linked with the targeted infrastructure proposed under 'Vision 2020: Right to Sight- India'. Considering these targets, there is a requirement of at least 20 eye bank training centres, 200 eye banks with corneal transplant facility (collection of nearly 500 corneas per year) and 2000 eye donation centres in the country. This would become a reality if the Hospital Cornea Retrieval Programme is strengthened at all private and government hospitals, uniform medical standards are made mandatory for all eye banks and eye donation centres and the process of registration and eye donation is simplified to enhance community participation.

Fluorescence in situ hybridization for chromosome 14q deletion in subsets of meningioma segregated by MIB-1 labelling index.

AIM: To correlate histopathological grading of meningiomas segregated into subgroups based on the MIB-1 labelling index (MIB-1 LI) with chromosomal loss of 14q using fluorescence in situ hybridization (FISH). SETTINGS AND DESIGN: Retrospective study conducted in a tertiary hospital. METHODS AND MATERIAL: Forty-six cases from January to December 2011 were segregated into 5 categories based on the MIB-1 LI. Slides were reviewed to ascertain the grade. Immunohistochemical staining for MIB-1 was performed using a Ventana Benchmark XT autostainer. Commercially available FISH paraffin pretreatment kit and SpectrumOrange fluorophore labelled probe were used. The Statistical Package for the Social Sciences version 16.0 for Windows was used for statistical analysis. RESULTS: There were 21 World Health Organisation (WHO) grade I, 24 grade II, and 1 grade III meningiomas. There was a statistically significant difference between the mean duration of symptoms, maximum dimension, and the MIB-1 LI of grade I and grade II meningiomas. 33.3% grade I cases showed 14q deletion, compared to 84% of grade II and III meningiomas. Histologically, hypercellularity, small cell formation, prominent nucleoli, and sheet-like growth were significantly associated with 14q deletion. All brain invasive meningiomas had 14q deletion. As MIB-1% increased, the prevalence of deletions was significantly higher. The mean MIB-1 of the 7 grade I meningiomas that had 14q deletions was 8.86 ± 1.95% when compared to 4.14 ± 1.35% for those without 14q deletions. CONCLUSIONS: A strong association existed between histologic grade, MIB-1 LI, and the presence of chromosome 14q deletion. Association of high MIB-1 LI with 14q deletions, even in meningiomas with a Grade I histology, defines a distinct subset of benign meningiomas.

Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination.

A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 (CHST6) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge.

Rapid survey for assessing effective cataract surgical coverage (eCSC) and effective refractive error coverage (eREC)-Novel indicators of universal eye health.

PURPOSE: As per the recent World Health Organization estimates, approximately 2.2 billion people have near and distance vision impairment (VI) globally, and out of this almost 50% is avoidable. METHODS: The Rapid Assessment of Avoidable Visual Impairment survey was a cross-sectional study conducted in September 2021, using cluster random sampling in 42 clusters with a cluster size of 140, giving a total of 6000 participants. Two teams comprising of trained optometrists and social workers conducted the ocular examination which included unaided, pinhole, and aided visual acuity assessments followed by examination of the anterior segment and lens. Distance visual acuity was measured using simplified tumbling "E" charts of different sizes for VA of 6/12, 6/18, and 6/60. The lens assessment was done in an un-dilated pupil with torch light by the optometrist. RESULTS: Overall, 6520 individuals aged 6 years and above were enumerated, of whom 5440 (83.4%) were examined. The response rate for examination was better among females (93.1%) than males (73.9%), and it decreased from 93.8% in the age group 6-15 years to 77.1% in the 45+ age group. The prevalence of blindness and VI were 0.18% (95% CI: 0.06-0.29) and 4.19% (95%CI: 3.65-4.72), respectively. The major causes of VI in all age groups were uncorrected refractive error (65.4%), cataract (23.7%), cataract surgical complications (2.6%), corneal opacity (0.4%), and other posterior segment diseases (7.5%). The effective cataract surgical coverage (eCSC) was 61.8%, effective refractive error coverage (eREC) for distance vision was 59.8%, and eREC for near vision was 47.0%. CONCLUSION: The RAAVI methodology is suitable to measure effective coverage in the general population, both for baseline measurement and periodic monitoring. The 2030 targets for the surveyed district are 90% eCSC and 100% eREC. Such exercises need to be conducted in each district of the country to determine the baseline and target values of effective coverage.

Effective cataract surgical coverage in India: Evidence from 31 districts.

BACKGROUND: Effective Cataract Surgical Coverage (eCSC) is a core outcomes domain indicator to assess accessibility and quality of eye care services with limited available information. PURPOSE: To generate baseline estimates of eCSC for India. METHODS: We performed the analysis of data pooled from Rapid Assessment of Avoidable Blindness surveys conducted in 31 districts of India during 2015-2019 among persons aged 50+ years. eCSC was calculated at various thresholds, the primary being operable cataract at best corrected visual acuity <6/12, good outcome at presenting visual acuity of 6/12. RESULTS: Age-sex standardized and weighed eCSC in India was 36.7% (95% CI: 33.6, 39.9), and cataract surgical coverage (CSC) was 57.3% (95% CI: 53.3, 61.2), a relative quality gap in cataract surgery being 36.0%. eCSC in males was higher at 38.0% than females (35.6%). eCSC increased with education from 31.0% in illiterate participants to 59.7% in class 10 educated. On multivariate analysis, rural setting, increasing age, and residence in eastern or northeastern zones of India continued to be associated with poor/worse eCSC, while female gender was associated with higher eCSC. District-wide variations in eCSC were observed. CONCLUSION: Developmental factors have an important bearing on eCSC in India. Geographical variations point toward the need for targeted, locally relevant strategies.

Definition and Diagnostic Criteria for Pediatric Blepharokeratoconjunctivitis.

Importance: Pediatric blepharokeratoconjunctivitis (PBKC) is a chronic, sight-threatening inflammatory ocular surface disease. Due to the lack of unified terminology and diagnostic criteria, nonspecific symptoms and signs, and the challenge of differentiation from similar ocular surface disorders, PBKC may be frequently unrecognized or diagnosed late. Objective: To establish a consensus on the nomenclature, definition, and diagnostic criteria of PBKC. Design, Setting, and Participants: This quality improvement study used expert panel and agreement applying the non-RAND modified Delphi method and open discussions to identify unified nomenclature, definition, and definitive diagnostic criteria for PBKC. The study was conducted between September 1, 2021, and August 14, 2022. Consensus activities were carried out through electronic surveys via email and online virtual meetings. Results: Of 16 expert international panelists (pediatric ophthalmologists or cornea and external diseases specialists) chosen by specific inclusion criteria, including their contribution to scientific leadership and research in PBKC, 14 (87.5%) participated in the consensus. The name proposed was "pediatric blepharokeratoconjunctivitis," and the agreed-on definition was "Pediatric blepharokeratoconjunctivitis is a frequently underdiagnosed, sight-threatening, chronic, and recurrent inflammatory eyelid margin disease associated with ocular surface involvement affecting children and adolescents. Its clinical spectrum includes chronic blepharitis, meibomitis, conjunctivitis, and corneal involvement ranging from superficial punctate keratitis to corneal infiltrates with vascularization and scarring." The diagnostic criteria included 1 or more suggestive symptoms accompanied by clinical signs from 3 anatomical regions: the eyelid margin, conjunctiva, and cornea. For PBKC suspect, the same criteria were included except for corneal involvement. Conclusions and Relevance: The agreements on the name, definition, and proposed diagnostic criteria of PBKC may help ophthalmologists avoid diagnostic confusion and recognize the disease early to establish adequate therapy and avoid sight-threatening complications. The diagnostic criteria rely on published evidence, analysis of simulated clinical cases, and the expert panel's clinical experience, requiring further validation with real patient data analysis.

Rare case of corneal keloid following radial keratotomy for myopia.

An adult male in his 50s presented with complaints of glare and gradual, painless, progressive diminution of vision in the right eye (RE). Visual acuity in RE was noted to be 2/60, and slit lamp biomicroscopy revealed a pearly grey-white elevated corneal opacity measuring 4 mm × 3 mm, obscuring the visual axis. There was no history of ocular trauma or infection. The patient had undergone bilateral radial keratotomy for myopia correction 25 years ago. Anterior segment optical coherence tomography imaging demonstrated increased corneal thickness of 1080 µm at the site of lesion and the height of the epicorneal mass was noted to be 493 µm. The patient underwent fibrin glue-aided anterior lamellar keratoplasty. Histopathological examination of the excised host tissue confirmed the diagnosis of corneal keloid.

COVID and COVID vaccine-related corneal morbidity: A review.

Systemic coronavirus disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus has had several ocular consequences. Many vaccines have been developed against the disease, with adverse events being reported as well. Various ocular adverse events secondary to coronavirus disease 2019 (COVID-19) vaccines have also featured in literature in recent times. This review features the reported corneal-related effects of COVID infection and vaccination. These include direct effects on corneal grafts and unilateral or bilateral corneal melts. The compilation of reported experiences from across the world in this systematic review will help clinicians recognize the possible presentations, pathogenesis, and management of the same.