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.

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 ± 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.

Occlusion-amblyopia following high dose oral levodopa combined with part time patching.

Part time occlusion therapy is not reported to cause occlusion (reverse) amblyopia. However, when combined with high dose oral levodopa, an increase in the plasticity of the visual cortex can lead to occlusion amblyopia. In this case report, we describe a six year old child who developed occlusion amblyopia following part time patching combined with oral levodopa.

The perceived personality traits of adults with digitally induced large angle strabismus and the impact of its correction.

Purpose: To ascertain the effect of digitally induced large angle strabismus and its correction on social bias against strabismic adults. Subjects and Methods: This prospective, observational study included 10 orthotropic subjects whose face photographs were digitally altered to produce esotropia, exotropia, and hypertropia. Three batches of non‑medical professionals, each consisting of 14 subjects, adjudged personality traits of the altered face photographs on a 10‑item questionnaire. The same evaluators effected the appraisal of the orthotropic photographs. The personality score of the strabismic photograph of a subject was compared with its own orthotropic photograph. Results: The 10 subjects whose photographs were digitally modified were of the same age (21 years) and had equal gender distribution. The evaluation of the photographs was performed by 42 evaluators aged 38.3 ± 14.9 years, of whom 21 were males. Different personality traits were rated negatively in the strabismic photographs. The statistically significant negative impact was apparent on more number of personality traits for esotropia (7 out of 10) as compared to exotropia (4 out of 10) or hypertropia (3 out of 10). Rating of the strabismic photographs was significantly lower by female evaluators (P = 0.006). However, there was no difference whether the subject evaluating the photograph of the strabismic individual was of the same gender or the opposite gender. Internal consistency of the questionnaire was excellent (Cronbach’s Alpha = 0.81). Conclusion: There was a significant negative impact of strabismus on the perceived personality traits of the digitally altered face photographs of the adults when compared to their orthotropic photograph.

Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia.

Progressive anterior segment fibrosis syndrome (ASFS), after intraocular surgery in older children (≥9 years) and adults with congenital aniridia, is described in the literature. In this report, we describe an unique case of ASFS in an infant with congenital aniridia following a combined trabeculotomy‑ectomy and its recurrence after a descemet stripping endothelial keratoplasty. The ophthalmologists should be well aware of this entity and warn the parents about its possibilities. Use of immunomodulators or prolonged anti‑inflammatory therapy may be considered to prevent its occurrence.

Comparison of lea gratings with cardiff acuity cards for vision testing of preverbal children.

Aims: To create a normative data for lea grating (LG) in the Indian population and to compare LG with Cardiff Acuity Card (CAC). Settings and Design: Normative Data was acquired from normal children between 6 months-3 years coming to the ‘Immunisation Clinic’ and ‘Well-Baby Clinic’ at a Civil Hospital. To compare LG with CAC, normal and amblyopic children between 6 months-3 years were evaluated, Materials and Methods: Monocular and binocular visual acuity (VA) was measured using LG and then CAC. VA and time taken to perform the test were compared. Statistical Analysis Used: Pearson's Correlation Coefficient to compare VA and Student paired t-test (significance P<0.005) to compare time. Results: Two standard deviations of VA of 100 normal children overlapped with that published by Lea. Of the 30 amblyopic children aged 18.32 ± 10.5 months (2-36), 18 were females. VA was 0.95 ± 0.3 logMAR (0.7–1.2) and 1.0 ± 0.6 logMAR (0.5–2.1) binocularly and 1.32 ± 0.08 logMAR (0.2-0.6) and 1.15 ± 0.15 logMAR (0.88-1.48) monocularly on CAC and LG respectively. Pearson's correlation coefficient was 0.98 and 0.63 for binocular and monocular assessment respectively. Time taken to perform LG monocularly and binocularly was significantly less (P<0.001) than CAC. Conclusion: Normative data acquired in Indian pre-verbal children is similar to that published by Lea. Though VA by CAC is better than LG, the two tests are comparable.

Dynamic distance direct ophthalmoscopy, a novel technique to assess accommodation in children.

Aim: To describe and compare dynamic distance direct ophthalmoscopy (DDDO) with dynamic retinoscopy (DR) in assessment of accommodation in children. Materials and Methods: This prospective observational study had four components. Component 1: to understand the characteristic digital images of DDDO. Component 2: to compare DDDO with DR for detection of accommodative defects in children (1–16 years). Component 3: to compare DDDO with DR for the detection of completeness of pharmacologically induced cycloplegia in children (5–16 years) and Component 4: to assess which one of the two techniques was more sensitive to detect onset of cycloplegia after instillation of 1% cyclopentolate eye drops. Results: Component 1: image analysis of DDDO on two subjects (7 years and 35 years) demonstrated superior pupillary crescent that progressively disappeared with increasing accommodation. Concurrently an inferior crescent appeared that became bigger in size with increasing accommodation. Component 2: the prevalence of defects in accommodation was 3.3% (33/1000 children). Three had unilateral accommodation failure. Sensitivity of DDDO was 94%, specificity 100%, positive predictive value 100%, negative predictive value 99%, and clinical agreement (kappa) 0.97. Component 3: in the detection of completeness of pharmacologically induced cycloplegia (n=30), the sensitivity of DDDO was 94%, specificity 96%, positive predictive value 97%, negative predictive value 93% and kappa 0.9. DR had two false positives. DDDO had one false negative. Component 4: DDDO detected onset of pharmacologically induced cycloplegia 5 min earlier than DR (n=5). Conclusion: DDDO is a novel, simple, clinical and reliable method to assess accommodation in young children. This test can assess the accommodative response of both eyes simultaneously.

Use of atropine to predict the accommodative component in esotropia with hypermetropia.

This cohort study included children with esotropia and hypermetropia of ≥ +2.0 diopters (D). The deviation was measured at presentation, under atropine cycloplegia and 3 months after full refractive correction. Of 44 children with a mean age of 5.2 ± 2.4 years, 25 were males. Eighteen (41%) had fully refractive accommodative esotropia (RAE), 10 (23%) had partial accommodative esotropia (PAE), and 5 (11%) had nonaccommodative esotropia (NAE). Eleven (25%) had convergence excess (CE). Under cycloplegia, all with RAE and RAE with CE had orthotropia. There was no significant change in the deviation in the patients with NAE. The deviation under cycloplegia and that with full refractive correction in PAE and PAE with CE (with +3.0 D addition) were not different. The intraclass correlation coefficient for deviation under cycloplegia and after full refractive correction (+3.0 D addition for CE) was 0.89. It was concluded that ocular deviation under cycloplegia can help to predict the accommodative component in esotropia with hypermetropia.

Feed back of the parents and / or relatives witnessing a squint surgery of their ward in the operation theater.

The aim of the study was to know the response of the relatives attending the squint surgery of their ward. A trained secretary administered an eight item questionnaire by live / telephonic interview. Of the 44 attendees, two left the Operation Theater before completion of the surgery. Mean age of the patients was 7.2 years ± 7.8 and that of the attendees was 36.1 years ± 8.5. Forty patients had a surgery under general anesthesia and four under local anesthesia. Eleven (25%) attendees experienced an increase in anxiety. Thirty-six (82%) attendees reported increased transparency, 38 (86%) reported increased confidence, and 43 (98%) reported increased awareness. None found any disadvantage. Twenty-seven (61%) recommended this practice for all and 16 (36%) recommended the practice selectively. The internal validity of the questionnaire was fair (Cronbach's Alpha = 0.6). It was concluded that the presence of relatives in the Operation Theater during the surgery could bring in more transparency, accountability, confidence, awareness, and trust.

Unilateral situs inversus of optic disc associated with reduced binocularity and stereoacuity resembling monofixation syndrome.

Situs inversus of the optic disc is a rare, usually bilateral, congenital embryological abnormality associated with high myopia, optic disc coloboma or tilted optic disc. It is characterized by emergence of the retinal vessels in an anomalous direction with dysversion of the optic disc. In this report we present a 13-year-old boy diagnosed with isolated, unilateral situs inversus of the optic disc associated with reduced binocularity and stereoacuity resembling a monofixation syndrome. The clinicians should be aware of this association and assess the binocularity in patients with unilateral optic disc or macular anomalies. Conversely, patients with reduced binocularity and stereoacuity should be carefully evaluated for macular or optic nerve anomalies, if not associated with strabismus, anisometropia and eccentric fixation. Typical fundus picture, optical coherence tomography and multifocal electro retinogram of the patient would be instructive to a clinician.

Intravitreal anti-vascular endothelial growth factor agents as an adjunct in the management of coats' disease in children.

We describe the role of intravitreal anti-vascular endothelial growth factor (VEGF) agents in Coats' disease in children. In a prospective, interventional, non-randomized case series, three patients (three eyes) aged 16, seven and two years were diagnosed to have Coats' disease. In Case 1 (16 yr/ male) with macular edema, previous laser photocoagulation being unsuccessful, intravitreal pegaptanib sodium (Macugen™) was tried. Case 2 (seven yr/ male) and Case 3 (two yr/ female) were diagnosed to have Stage 4 Coats' and underwent external needle drainage, laser photocoagulation, SF6 gas injection and intravitreal injection of bevacizumab (Avastin™). Reduction of exudation and attached posterior pole (Cases 2 and 3) was seen at a follow-up of six months and two months respectively. Intravitreal anti-VEGF agents may be successfully used as adjunct treatment in select cases of Coats' disease in childhood.

Comparison of psychosocial and emotional consequences of childhood strabismus on the families from rural and urban India.

Purpose: To compare the psychosocial consequences of horizontal comitant strabismus in children between the families of urban and rural India. Materials and Methods: In this cohort study, an eight-question quality-of-life instrument was administered by trained staff to the guardians of strabismic children from rural and urban areas by a live interview. Results: This study included 93 strabismic-children aged 4-16 years of which 52 were females. Forty-one had esodeviation and 52 had exodeviation. Seventy per cent parents were extremely distressed due to squint, 65% were extremely distressed due to people's remarks, 65% were extremely worried, 55% children were extremely distressed due to people's remarks, 57% children were severely ostracized, 38% had severe difficulty in communication and 50% had difficulty to cope; 64% parents were not advised a corrective surgery. The difference between families from rural and urban areas, or whether a male child was affected or a female child or for an esodeviation or an exodeviation was statistically not significant. The questionnaire had a good internal consistency (Cronbach's Alpha = 0.71). Conclusions: There was a significant negative psychosocial and emotional impact of childhood strabismus that was not affected by the rural or urban location of the family or the gender of the strabismic child or type of the deviation. The quality-of-life instrument can be used as part of the clinical examination for strabismic children.

Evaluation of central, steady, maintained fixation grading for predicting inter-eye visual acuity difference to diagnose and treat amblyopia in strabismic patients.

Background: Diagnosis of amblyopia in preverbal strabismic patients is frequently made by binocular fixation preference (BFP) testing. The reports on reliability of BFP are equivocal. This study evaluated the reliability of BFP testing in patients with horizontal strabismus. Materials and Methods: This prospective observational study included patients with manifest, horizontal, comitant deviation >10 prism diopter (PD). Inter-eye acuity difference (IEAD) was calculated by converting Snellen visual acuity to logMAR and was compared with BFP testing. The fixation behavior of the non-preferred eye was evaluated by a single investigator as central or uncentral, steady or unsteady and maintained or unmaintained. Amblyopia was defined as the IEAD of >0.2 logMAR. Results: Of total 61 patients 36 were females and 36 had convergent squint, mean age 9.8 years. The correlation of BFP testing with IEAD was good for esotropia and exotropia. The sensitivity, specificity, positive and negative predictive value of central, steady, maintained (CSM) grading was 93%, 78%, 79%, and 93% respectively. Sensitivity and negative predictive values were higher in children aged four to nine years and anisometropia >1 diopter. The correlation between IEAD and lower grades of BFP testing was poor. Conclusions: CSM grading for BFP testing is useful for the detection of strabismic amblyopia but not useful to differentiate the depth of the amblyopia.

Anterior dislocation of a sulcus fixated posterior chamber intraocular lens in a high myope.

A 31-year-old man with high axial myopia and strabismus fixus convergens underwent bilateral refractive lens exchange followed by a squint surgery (bilateral superior partial Jensen's procedure and medial rectus recession). After one year he presented with traumatic anterior dislocation of the sulcus fixated posterior chamber polymethyl methacrylate lens. The lens was dialed back into the ciliary sulcus without any complications. This case highlights the importance of implanting an intraocular lens (IOL) in-the-bag. If the IOL needs to be implanted in the sulcus, a larger diameter of the IOL with larger optic size and overall length is desirable, especially in highly myopic eyes.

Can the Bruckner test be used as a rapid screening test to detect significant refractive errors in children?

PURPOSE: To assess the suitability of Brückner test as a screening test to detect significant refractive errors in children. MATERIALS AND METHODS: A pediatric ophthalmologist prospectively observed the size and location of pupillary crescent on Brückner test as hyperopic, myopic or astigmatic. This was compared with the cycloplegic refraction. Detailed ophthalmic examination was done for all. Sensitivity, specificity, positive predictive value and negative predictive value of Brückner test were determined for the defined cutoff levels of ametropia. RESULTS: Ninety-six subjects were examined. Mean age was 8.6 years (range 1 to 16 years). Brückner test could be completed for all; the time taken to complete this test was 10 seconds per subject. The ophthalmologist identified 131 eyes as ametropic, 61 as emmetropic. The Brückner test had sensitivity 91%, specificity 72.8%, positive predictive value 85.5% and negative predictive value 83.6%. Of 10 false negatives four had compound hypermetropic astigmatism and three had myopia. CONCLUSIONS: Brückner test can be used to rapidly screen the children for significant refractive errors. The potential benefits from such use may be maximized if programs use the test with lower crescent measurement cutoffs, a crescent measurement ruler and a distance fixation target.