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.

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.

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.

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.

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.

Primary superior oblique muscle-levator muscle synkinesis.

Congenital ocular aberrant innervations can involve oculomotor, trigeminal, abducens, facial, and glossopharyngeal nerves.(1) Involvement of the trochlear nerve is considered rare or nonexistent.(1) In this report we present a case of upper eyelid retraction while looking in the field of action of the superior oblique muscle, indicating a primary superior oblique-levator muscle synkinesis.

Clinical characteristics of spontaneous late-onset comitant acute nonaccommodative esotropia in children.

PURPOSE: To describe the clinical characteristics of spontaneous, late-onset comitant acute, nonaccommodative esotropia (ANAET) in children. MATERIALS AND METHODS: Clinical characteristics of a cohort of patients under 16 years of age with ANAET were studied retrospectively. RESULTS: Of 15 patients eight were females. Mean age was 7.15 years (range 2.5-13, SD 3.34). Mean age of the onset of deviation was 3.2 years (range 1.5-9, SD 2.26). Mean duration of strabismus was 36 months (range 3-132, SD 43). History of a precipitating event was present in five patients (33.3%). Mean cycloplegic refraction was 1.84 diopter sphere (range -5.75 to +7.25, SD 3.55). Mean esodeviation for near and distance fixation was 40 prism diopter (range 15-90, SD 23.9). None had near/distance disparity of more than 5 prism diopter. Amblyopia was present in 13 cases (87%). Strabismus surgery was performed for eight patients. Five patients had orthophoria and three were aligned within 8 prisms esodeviation. CONCLUSION: ANAET is more common than previously reported, has a variable time of onset and high incidence of amblyopia. Timely management would avert emergence of amblyopia and vertical incomitance thereby promising better binocular outcome.

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.

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.

Giant inclusion cyst of the cornea following filtering surgery.

Various trans-conjunctival ophthalmic procedures are reported to cause inclusion cyst of conjunctiva, due to the accidental inclusion of viable conjunctival epithelium, under intact conjunctiva. We report a case of histopathologically confirmed inclusion cyst of the cornea following filtering surgery. There was no recurrence in 24 months of postoperative period.

Recurrence of bilateral herpes simplex virus keratitis following bimatoprost use.

A 76-year-old man presented with features of bilateral herpes simplex virus (HSV) keratitis. It was found to be recurrence of bilateral HSV keratitis following the use of Bimatoprost eye drops for uncontrolled intraocular pressure in a case of bilateral primary open-angle glaucoma.

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.

Can ocular torsion be measured using the slitlamp biomicroscope?

PURPOSE: To evaluate and compare a stereo-biomicroscopic technique of ocular torsion measurement with fundus photographic technique. METHODS: This prospective masked observational study included 72 eyes of 36 consecutive subjects with normal ocular motility. The disc-foveal angle was measured by two masked investigators using a slitlamp stereo-biomicroscopic and fundus photographic technique. RESULTS: The mean age was 13.7 years (6 - 44 years), and 15 (41.6%) were males. The average torsion using the slitlamp technique was 5.5 +/- 3.3 degrees and 6.1 +/- 4.3 degrees with fundus photographic technique. Clinical agreement between the two techniques for 5 degree and 6 degree torsion was 81% and 90% respectively. The average difference between the two techniques was 3.0 +/- 2.6 degrees . The mean inter-ocular difference was 3.3 +/- 2.7 degrees (SD, 2.77) and 5.5 +/- 4.6 degrees using the slitlamp and fundus photographic technique respectively. The Pearson correlation coefficient (r2) was 0.5. CONCLUSION: The fundus photographic technique remains the gold standard test for the measurement of ocular torsion. The slitlamp biomicroscopic method can be useful where a fundus camera is unavailable. Further studies are required to test the repeatability of these tests.

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.