Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting.

Purpose: To analyze the genetic referral practices of pediatric ophthalmologists in an urban setting. Methods: (1) The first limb of the study: cross-sectional, observational study among children visiting the outpatient department of pediatric ophthalmology across five centers in Mumbai. All pediatric patients were screened separately by pediatric ophthalmologists and a clinical geneticist for their ophthalmic and systemic complaints. Children were marked for referral to genetics (RTG) by both the specialists based on identification of distinctive features (red flag) and were requested to meet a local geneticist. (2a) Twenty-three months later, patients who had been marked for RTG were contacted telephonically to follow-up if they had met the geneticist. (2b) Additionally, the last 20 proformas from each center were checked retrospectively to note the RTG marked by the ophthalmologist alone. Results: (1) In the first aspect of the study, 126 patients (male: female = 1.2:1) were included. Forty-nine (38.3%) patients were referred for genetic evaluation, of which three (6.1%), 31 (63.26%), and 15 (30.6%) cases were referred by the ophthalmologist alone, geneticist alone, and by both the specialists, respectively. Glaucoma (100%), nystagmus (86%), and leukocoria (83%) were the most prominent ocular diagnoses in cases referred for genetic evaluation. Facial dysmorphism (55.1%) and neurodevelopmental delays (51%) were among the most common systemic red flags found in patients referred to genetics. (2a) Twenty-three months later, on contacting the 49 patients marked for RTG, only one family had met the geneticist. (2b) Retrospective evaluation of 100 proformas: only three patients were marked for RTG by ophthalmologist alone. Conclusion: This study found that the genetic referrals by pediatric ophthalmologist were far lesser than those by geneticist. The study highlights an area of knowledge gap among pediatric ophthalmologists, prompting a need for heightened awareness in this area.

Uveitis, glaucoma, and cataract with mevalonate kinase deficiency.

We report 7 years of follow-up data on ocular findings in a 2-month-old boy who presented with early-onset bilateral granulomatous panuveitis with subsequent development of secondary glaucoma and total cataract, along with multisystem involvement. He was diagnosed with mevalonate kinase deficiency (MKD), with a homozygous missense variant in exon-6 of the mevalonate kinase (MVK) gene on chromosome-12 that resulted in the substitution of aspartic acid for asparagine at codon 205 (p.Asn205Asp). Despite being managed with topical/systemic steroids and immunosuppression therapy with methotrexate and a short course of adalimumab, the patient continued to develop recurrent episodes of uveitis along with multisystem manifestations. The occurrence of early-onset uveitis is rare, as is the diagnosis of MKD.

Convergence excess consecutive esotropia associated with 0.01% atropine eye drops usage in patients operated for intermittent exotropia.

To report convergence excess esotropia (CEET) following 0.01% atropine eye drops (Low dose atropine [LDA]). Children who developed CEET that resolved promptly after discontinuation of LDA are described. Three myopes aged 5.3 ± 1.2 years and mean sphere -4.5D were included. All were operated for intermittent exotropia earlier. Mean esotropia was +28.3PD for near and 10.6PD for distance. LDA induced high AC/A ratio and fusion normalized in 3 weeks after discontinuation of LDA. LDA should be used with caution in patients with esophoria or previously operated for intermittent exotropia. Any evidence of the emergence of a CEET should warrant discontinuation of LDA.

Estimation Dynamic Distance Direct Ophthalmoscopy (eDDDO): A novel, objective method for the quantitative assessment of accommodation in young children.

Purpose: To describe estimation dynamic distance direct ophthalmoscopy (eDDDO) and compare it with the monocular estimation method of dynamic retinoscopy (eDR) for the assessment of accommodation in children. Methods: In this prospective observational cohort study, an ophthalmologist performed eDDDO followed by eDR in children with normal eyes, and then under the partial effects of cyclopentolate and tropicamide to assess performance of eDDDO with eDR under the condition of pharmacologically induced accommodation failure. Only one eye of each child was recruited in the study. To study the inter-observer variation, two masked pediatric ophthalmology fellows performed eDDDO in the similar manner. Results: For the comparison of eDDDO with eDR, 60 eyes of 60 patients were recruited. The mean age of the patients was 10.4 years. The mean accommodation on eDDDO was 3.0D, 5.1D, 9.8D, and 11.3D at 40 cm, 25 cm, 10 cm, and 8 cm, respectively and 3.0D, 5.0D, 9.5D, and 11.0D on eDR. The eDDDO overestimated accommodation by a mean 0.17D (95% CL 0-0.48D, P = 0.5). The correlation of eDDDO with eDR was excellent (Pearson r 0.98, T value 76.0). The inter-observer difference with eDDDO was not significant (mean 1D, 95% CL 0-2.6D, P = 0.9) and the correlation between two observers was excellent (Pearson r 0.9, T value 12.7). The eDDDO and eDR were also performed on 12 eyes of 6 children with a mean age of 8.5 years (range 8-12 years) under the partial effect of cyclopentolate and tropicamide, where eDDDO overestimated the accommodation by a mean 0.3D (95% CL 0- 1.2D, P = 0.7) and the correlation was excellent (Pearson r 1.0, T value 45). Conclusion: eDDDO is a simple, reliable, quantitative, and objective technique of accommodation assessment for children. Further studies with larger sample are required to assess its performance in disorders of accommodation affecting younger children and in children with ocular comorbidities.

Allergic reactions to atropine eye drops for retardation of progressive myopia in children.

PURPOSE: To report clinical manifestations of ocular allergy to atropine eye drops used for retardation of progressive myopia in children. METHODS: Myopic children, who developed bothersome itching that subsided promptly after cessation of atropine eye drops, were included. History of systemic or ocular allergy, preexisting ocular conditions, and clinical features of allergy were noted. RESULTS: Six children, age 5-15 years, were included. Four developed allergy to 1% atropine sulfate eye drops and two to 0.01% concentration of atropine sulfate. The onset of allergy was within a month to as late as 4 years after using atropine eye drops. The severity of allergy was higher with 1% concentration. The most common symptoms of atropine allergy were itching and burning. The most common signs were lid swelling and hyperemia. The allergic manifestations promptly reversed with the stoppage of eye drops. Reintroduction was possible in three patients, either by reducing the concentration of atropine or using benzalkonium free formulation. CONCLUSION: Allergy to atropine eye drops in children may develop within a few weeks or after many years of usage. Prompt cessation followed by a reintroduction and continuation of therapy may be possible in few patients.

Efficacy of 1% atropine eye drops in retarding progressive axial myopia in Indian eyes.

PURPOSE: The aim of this study is to assess the efficacy of 1% atropine eye drops for the retardation of progressive axial myopia in Indian eyes. METHODS: This prospective interventional cohort study included children aged 5-16 years. Both the eyes of myopic children with progressive increase of ≥-0.5D sphere/year with the best-corrected vision of ≥6/6 were treated with once a day application of 1% atropine eye drops and progressive addition photogray lenses. The progression of myopia after 1-year follow-up was analyzed. RESULTS: Sixty eyes of thirty myopes were included in the study. The mean age was 10 years and 15 were girls. The mean baseline sphere was -5.2D (-2.5D--13D). Mean duration of follow-up was 23 months (12-36 months). The baseline rate of progression was reduced from -0.6D/year (range -0.5D/year to -3D/year) to -0.2D/year (range 0D/year to -1.5D/year) after atropine therapy. Seventeen patients (57%) had to use the atropine in the daytime to reach the target progression of P = 0.6). The efficacy of atropine drops did not have a correlation with the age of the patients or the magnitude of baseline myopia (Pearson's r = 0). CONCLUSION: 1% atropine eye drops was well tolerated and efficacious for the retardation of progressive myopia in Indian eyes. Effectiveness was better with daytime application. Further studies are necessary to assess the role of 1% atropine in the rapid progressors and patients poorly responding to low-dose atropine.

The opportunistic screening of refractive errors in school-going children by pediatrician using enhanced Brückner test.

AIM: The aim of this study was to compare the results of enhanced Brückner test (EBT) performed by a pediatrician and an experienced pediatric ophthalmologist. SUBJECTS AND METHODS: In this prospective double-masked cohort study, a pediatrician and a pediatric ophthalmologist performed the EBT in a classroom of a school in semi-dark lighting condition using a direct ophthalmoscope. The results of the test were compared using 2 × 2 Bayesian table and kappa statistics. The findings of the pediatric ophthalmologists were considered gold standard. RESULTS: Two hundred and thirty-six eyes of 118 subjects, mean age 6.8 ± 0.5 years (range, 5.4-7.8 years), were examined. The time taken to complete this test was <10 s per subject. The ophthalmologist identified 59 eyes as ametropic (12 hyperopic and 47 myopic eyes) and 177 as emmetropic compared to 61 eyes as ametropic and 175 emmetropic by pediatrician. The prevalence of the test positive was 25.9%. The sensitivity of the pediatrician was 90.2%, specificity was 97.7%, predictive value of the positive test was 93.2%, and predictive value of the negative test was 96.6%. The clinical agreement (kappa) between the pediatric ophthalmologist and the pediatrician was 0.9. CONCLUSION: The results of the EBT performed by pediatrician were comparable to that of an experienced pediatric ophthalmologist. Opportunistic screening of refractive errors using EBT by a pediatrician can be an important approach in the detection of ametropia in children.

Reliability of "Google" for obtaining medical information.

Internet is used by many patients to obtain relevant medical information. We assessed the impact of "Google" search on the knowledge of the parents whose ward suffered from squint. In 21 consecutive patients, the "Google" search improved the mean score of the correct answers from 47% to 62%. We found that "Google" search was useful and reliable source of information for the patients with regards to the disease etiopathogenesis and the problems caused by the disease. The internet-based information, however, was incomplete and not reliable with regards to the disease treatment.

Converting a conventional wired-halogen illuminated indirect ophthalmoscope to a wireless-light emitting diode illuminated indirect ophthalmoscope in less than 1000/- rupees.

AIM: To report the "do it yourself" method of converting an existing wired-halogen indirect ophthalmoscope (IO) to a wireless-light emitting diode (LED) IO and report the preferences of the patients and the ophthalmologists. SUBJECTS AND METHODS: In this prospective observational study, a conventional IO was converted to wireless-LED IO using easily available, affordable electrical components. Conventional and the converted IO were then used to perform photo-stress test and take the feedback of subjects and the ophthalmologists regarding its handling and illumination characteristics. RESULTS: The cost of conversion to wireless-LED was 815/- rupees. Twenty-nine subjects, mean age 34.3 [formula in text] 10 years with normal eyes were recruited in the study. Between the two illumination systems, there was no statistical difference in the magnitude of the visual acuity loss and the time to recovery of acuity and the bleached vision on photo-stress test, although the visual recovery was clinically faster with LED illumination. The heat sensation was more with halogen illumination than the LED (P = 0.009). The ophthalmologists rated wireless-LED IO higher than wired-halogen IO on the handling, examination comfort, patient's visual comfort and quality of the image. Twenty-two (81%) ophthalmologists wanted to change over to wireless-LED IO. CONCLUSIONS: Converting to wireless-LED IO is easy, cost-effective and preferred over a wired-halogen indirect ophthalmoscope.