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PURPOSE: To study the clinical presentations, visual, and refractive profiles of children with congenital ectopia lentis in a large cohort of patients from a tertiary eye care network in India. MATERIALS AND METHODS: A retrospective review of electronic medical records from December 2012 to December 2020 was conducted. Two hundred and ninety‑seven consecutive children ≤18 years of age at presentation were identified and analyzed for demographic details, patient distribution, lens subluxation, visual, and refractive profiles before and after the interventions. RESULTS: Five hundred and ninety‑four eyes of 297 (male 56%; n = 166) patients were analyzed. The mean age at presentation was 8.74 ± 3.89. Best‑corrected visual acuity (BCVA) at presentation ranged from 0.3 logMAR to 3.5 logMAR; (Snellen: 6/9 – close to face [CF]) (mean 0.89 ± 0.68). High myopia (n = 201; 33.83%) and mild astigmatism (n = 340; 57.23%) were more frequent. Temporal (n = 108; 18.18%) subluxation was most common followed by superior. Lensectomy with limited vitrectomy was performed in 243 eyes of 127 patients (40.90%). Median preoperative BCVA was 1.0 (range: 0.3–3.5 logMAR; 20/40 ‑ CF). Median postoperative BCVA was 0.5 logMAR (6/18) in the pseudophakic group and 0.6 logMAR (6/24) in the aphakic group. Spherical equivalent in myopic children reduced from −12.06 ± 6.84D to −1.57D (−0.25D to − 5.5D) in the pseudophakic group and +9.3D (+5.5D to 15.5D) in the aphakic group. CONCLUSION: This study is a large cohort of children presenting with ectopia lentis. Following intervention, an improvement in the median BCVA and refractive correction was noted in the entire cohort. [ABSTRACT FROM AUTHOR]

The objective of this study was to record the clinical, neuro-radiological, and systemic features of patients with septo-optic dysplasia (SOD). A retrospective review of patients was conducted to identify patients with features consistent with SOD over a 6-year period, including optic nerve hypoplasia with agenesis of midline structures, along with an absent septum pellucidum and/or agenesis of the corpus callosum. Thirty-three patients were identified. The male to female ratio was 2:1, while the median age at diagnosis was 5 years (interquartile range = 10 years, range = 0–44 years). Optic nerve hypoplasia (ONH) was bilateral in 81.81% of cases (n = 27) and unilateral in 18.18% of cases (n = 6), with three cases in each eye. Developmental delay was documented in 24.2% (n = 8). The most frequent magnetic resonance imaging features that were consistent with SOD included: isolated absent septum pellucidum reported in 51.51% (n = 17); isolated corpus callosum agenesis in 33.33% (n = 11); and both absent septum pellucidum and corpus callosum agenesis in 15.15% (n = 5). Pituitary gland abnormalities, including pituitary hypoplasia in 9% (n = 3) or hypoplasia of pituitary infundibulum in 6% (n = 2) were less common. Pituitary hormonal abnormalities were present in 50% of the 10 tested patients (n = 5). Although bilateral ONH is more frequent, hypoplasia of just one optic nerve could be a presenting feature of SOD. Therefore, additional neuro-imaging is important for a diagnosis in cases of unilateral and bilateral ONH and a multidisciplinary approach is beneficial. [ABSTRACT FROM AUTHOR]

The crystalline lens is an important structure in the eye that starts to develop as early as the 22nd day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual impairment or the presence or absence of any syndromic associations. While lens coloboma has more often been reported in isolation, the more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene. Recognition of these manifestations and obtaining a genetic diagnosis is an important step in the management. The level of visual impairment and amblyopia dictates the outcomes in patients managed either conservatively with optical correction as well as surgically where deemed necessary. This review discusses the various anomalies of the lens shape with its related genetics and the management involved in these conditions. [ABSTRACT FROM AUTHOR]

Background: This report describes a very rare case of progeroid syndrome of De Barsy (Cutis laxa-corneal clouding syndrome). Materials and Methods: A 2 year-old child presented to the pediatric ophthalmology outpatients with bilateral congenital corneal opacification along with dysmorphic facial features, including loose wrinkled skin, progeroid appearance, delayed milestones, short stature, multiple hyper-extensible joints, muscular hypotonia, pectus excavatum and congenital dislocation of the hip joint. The child underwent a detailed ophthalmic work up and systemic evaluation by a clinical geneticist. Results: Ophthalmic management in the form of bilateral sequential penetrating keratoplasties and a left eye trabeculectomy for medically uncontrolled angle-closure glaucoma was performed. Visual rehabilitation with glasses and amblyopia therapy is ongoing. Histopathology of the corneal button revealed loss of the bowman's layer which was replaced by a fibrous pannus while the stroma showed loss of stromal lamellar architecture with anterior and mid stroma showing vascularization. Genetic testing confirmed a mutation in the PYCR1 gene for a homozygous autosomal recessive cutis laxa type IIB. Conclusions: Although rare, De Barsy syndrome is an important cause of corneal opacification at birth with multiple systemic abnormalities that requires intervention. [ABSTRACT FROM AUTHOR]

We report an atypical presentation of endophthalmitis in a 2-month-old infant due to a rare infection by Pasteurella canis , small Gram-negative coccobacilli that inhabit the oral cavity and the gastrointestinal tracts of animals, including domesticated cats and dogs. Ocular infections are mainly associated with animal bites and scratches. [ABSTRACT FROM AUTHOR]

Purpose: To identify and describe the clinical profile at presentation in patients diagnosed as having Leber's hereditary optic neuropathy with primary and secondary mutations and correlate with treatment. Methods: A review of electronic medical records from January 2016 to December 2020 for proven cases of Leber's hereditary optic neuropathy was conducted. A total of 157 patients with clinically suspected Leber's hereditary optic neuropathy (143 males and 14 females) underwent genetic testing and 55 were found to have a mutation for Leber's hereditary optic neuropathy. Data of 55 consecutive patients were retrieved and analyzed for their clinical profile, investigations, mutations identified, treatment, and outcome. Results: All 55 patients were male, and the mean age was 23.80 ± 9.90 years (range: 9 to 53 years). The median duration of symptoms before the first physician examination was 6 months. The mean duration between the first hospital visit and genetically proven diagnosis of Leber's hereditary optic neuropathy was 9.03 ± 19.61 months (median: 2 months). More than half of the patients (n = 32; 58.2%) presented with severe to profound vision impairment in the better eye and 72.7% (n = 40) in the worse eye. Bilateral temporal disc pallor was more frequent in 38.2% (n = 21) and 36.4% (n = 20) had bilateral optic atrophy. Primary single mutations were detected in 61.81% (n = 34) and secondary mutations were detected in 38.2% (n = 21). The most common mutation was G11778A. One novel secondary mutation (A13615C) was identified in the cohort. Idebenone was used for treatment in 15 patients, and half of them (n = 8) showed an improvement in vision at 2 to 7 months of follow-up. Conclusions: The current cohort is the largest study to date in an Indian population that has analyzed the clinical presentations and mutations of Leber's hereditary optic neuropathy. G11778A was the most common primary mutation and several secondary mutations were identified. A delay in referral, inadequate compliance, and cost of care contributed to the outcomes. [J Pediatr Ophthalmol Strabismus. 2022;59(5):344–349.] [ABSTRACT FROM AUTHOR]

Purpose: To assess the clinical profiles, presenting ocular features, and variations in the phenotypic features in siblings with oculocutaneous albinism (OCA).Methods: Electronic medical records of consecutive siblings diagnosed with albinism from January 2016 to December 2020 were reviewed to identify the affected siblings. The variations in their phenotypic characteristics were studied.Results: Significant variations were observed in the clinical features between the siblings (n = 42). A difference of >2 lines in visual acuity was observed in 50% (n = 21) of the sibling pairs. Compound hyperopic astigmatism was the commonest refractive error. The refractive status was different in 80.95% (n = 34) pairs. Although individually strabismus and abnormal head posture were observed in one-third and one-fourth of individual children, respectively, both siblings with similar strabismus were seen in only 16.67% (n = 7) and with a similar abnormal head posture in 13.33% (n = 5). Nystagmus was the most consistent finding across these siblings with a similar nature of horizontal jerk or pendular in 65% of sibling pairs.Conclusion: This study observed significant variations in phenotypic presentations among siblings with OCA. Such differences in clinical manifestations and severity would be helpful in appropriate counseling of these families as the need for rehabilitation services is likely to vary across siblings. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the demographic details, clinical presentation, and surgical outcomes in patients presenting with strabismus following orbital wall fractures. Methods: A retrospective review was conducted over a 6-year period on 347 consecutive patients with strabismus who presented after orbital wall fractures. The patients were evaluated for their demographic data, clinical presentation, and profiles, management, complications, and outcomes of strabismus. Results: Strabismus following orbital wall fractures was noted in 347 patients: 87.03% were men (n = 302) and 12.97% were women (n = 45). Fracture of the orbital floor in isolation or in combination with other walls was more frequently noted in 72.3% of patients (n = 251). The resultant strabismus included paralytic, restrictive, or both etiologies. Exotropia was noted most frequently in 25.65% of patients (n = 89), followed by exotropia with hypotropia in 20.75% of patients (n = 72). Ten percent of patients with strabismus (n = 34), who were observed for at least 6 months after injury, underwent surgical correction for strabismus. Preoperative diplopia was observed in 79.41% of patients (n = 27) and persisted after strabismus surgery in 15% of patients (n = 6). A successful outcome regarding the postoperative angle of deviation of 10 prism diopters or less horizontal and/or 5 prism diopters or less of vertical deviation with elimination of diplopia was observed in 41.17% of patients. Conclusions: Strabismus following orbital wall fractures is complex and requires a tailored strategy. The current study found the orbital floor to be more frequently involved in orbital wall fractures. However, the resultant strabismus was a combination of paralytic and restrictive etiologies. [J Pediatr Ophthalmol Strabismus. 2022;59(3):172–179.] [ABSTRACT FROM AUTHOR]

A boy in his early childhood was brought for a comprehensive eye examination as advised by a paediatrician. The child had plagiocephaly, absent left ear (anotia), facial asymmetry, deviation of mouth to the left side, receding chin and teeth, scoliosis and a Mongolian spot on the lower back. There was also absence of seventh and eighth cranial nerves on the left side on MRI of the brain. Echocardiography showed a small ventricular septal defect and a single umbilical artery. Gross motor milestones were delayed and on ocular examination, the child showed right eye preference and retinochoroidal coloboma in the left eye. The child was managed with a multidisciplinary approach involving the paediatrician, ENT specialist, ophthalmologist, clinical geneticist and rehabilitative services. The child was managed conservatively with spectacles and occlusion therapy of the right eye, and genetic counselling was given along with a left hearing aid and rehabilitation. [ABSTRACT FROM AUTHOR]

To report a rare ocular presentation of unilateral anterior uveitis with hypopyon in a 5-year-old child, suspected as masquerade. Retrospective report A 5-year-old boy presented with hypopyon-uveitis. Detailed systemic work-up was negative for masquerade and uveitis entities. He was started on oral and topical steroids but had reactivation on taper. Real-time polymerase chain reaction (PCR) test of aqueous fluid was positive for herpes simplex virus (HSV)-1 DNA. The inflammation resolved completely on oral acyclovir and topical corticosteroids. He subsequently underwent pars plana lensectomy, primary posterior capsulotomy and vitrectomy for complicated cataract. Post-operatively, vision improved to 20/400 with aphakic correction. Maintenance oral acyclovir was stopped after 3 months with no reactivation and amblyopia therapy was continued. This is a rare presentation of hypopyon uveitis due to HSV-1 in a child. The role of real-time PCR in establishing the diagnosis is crucial in such cases of diagnostic dilemma. [ABSTRACT FROM AUTHOR]

Objective: The aim is to report a very rare case of a fibroblastic tumour in the medial rectus muscle of the right eye in a young adult. Methods: A 28-year-old patient presented to the strabismus clinic with large-angle exotropia in the right eye. The patient had previously undergone strabismus surgery in both eyes, and the old photos showed increasing exotropia from childhood to adulthood. On examination, the patient had a best corrected visual acuity of 20/20, 85 PD of exotropia with a −4 limitation of adduction, and retinal evaluation was unremarkable. In view of the chronicity of the deviation, increasing exotropia over time, and limitation of the ocular motility in adduction, a magnetic resonance imaging was performed. Results: Orbital magnetic resonance imaging (MRI) undertaken to identify the extraocular muscle position revealed a bulky and thickened right medial rectus muscle with post-contrast enhancement and without fat stranding and orbital extension. A muscle biopsy was performed, and a series of histopathological stains revealed that the tumour cells were positive for CD34 and vimentin. Immuno histochemistry and histopathology suggested a benign fibroblastic tumour (superficial CD34+ fibroblastic tumour) with low malignant potential. Conclusion: This report describes a fibroblastic tumour of the eye muscle identified on neuroimaging and confirmed on histopathology. Such a presentation is very rare and to the best of our knowledge has not been previously reported in ophthalmic literature. [ABSTRACT FROM AUTHOR]

We report a rare case of isolated partial left III cranial nerve palsy due to inflammatory oculomotor neuritis after dengue fever with unique neuro-imaging findings of enhancement seen along the entire course of the oculomotor nerve. [ABSTRACT FROM AUTHOR]

We report a rare presentation of xerophthalmia due to partial pancreatic exocrine insufficiency following Frey’s surgery (pancreatic resection) in a 12-year-old girl. The child had undergone this surgery for chronic calcific pancreatitis 3 years before and presented with ocular irritation and decreased vision of 3months duration. Ocular examination showed severe conjunctival and corneal xerosis. Her serum retinol levels and 25-hydroxyvitamin D were tested and were extremely low. The condition rapidly reversed following highdose replacement therapy with vitamin A and D. This case highlights the importance of continuous enzyme replacement therapy as well as dietary modification and nutritional supplement therapy and monitoring of ocular symptoms in post-pancreatic surgery [ABSTRACT FROM AUTHOR]

Purpose Methods Results Conclusion To investigate the refractive error profile and progression in infants with different stages of ROP, without ROP, and those who received laser treatment for ROP.This retrospective study included the data from 838 infants (baseline mean age 3.7 ± 5.4 months) who had premature birth. Among these, 433 infants had one of the stages of ROP and 405 had no ROP. Infants with ROP were sub‐divided into stage 1 (n = 76), stage 2 (n = 142), and stage 3 (n = 136) and aggressive posterior ROP, (APROP, n = 79). They were further categorized into those who received treatment (n = 213) and with no treatment for ROP (n = 220). Data from a subset of 117 infants was used to assess the 1‐year change in the refractive error. Myopia was defined as spherical equivalent refraction (SER) <−0.50 diopters (D). Eyes with retinal detachment were excluded.Higher percentage of myopia was found in infants with ROP (39.7%) than no‐ROP (19.8%), and it increased with severity of ROP: stage 1: 19.7%, stage 2: 33.8%, stage 3: 45.6%, and 59.5% in APROP. Percentage of myopia doubled in those who underwent treatment for ROP (54.5%) compared to no‐treatment group (25.5%). Mean (± SEM) change in SER after 1 year was significantly greater in infants with APROP −4.55 ± 1.38 D and stage 3 ROP −2.28 ± 0.57 D compared to other stages and no‐ROP.Myopia was found to be more prevalent in preterm infants in general, and more in the presence of ROP. Preterm infants without or with any form of ROP, particularly those with severe form of ROP and those who received treatment require meticulous periodic refractive error assessment. [ABSTRACT FROM AUTHOR]

Objective: To report the clinicopathologic features of 4 opacified, single-piece, hydrophilic, acrylic intraocular lenses (IOLs) explanted from children who had undergone IOL implantation during infancy. Design: Observational case series. Participants: Four IOLs explanted from 4 eyes of 3 children for visually significant opacification were included in the study. Methods: The clinical details of each case were obtained to look for possible risk factors for IOL opacification. The explanted IOLs were subjected to gross examination, staining by alizarin red 1% for calcium, scanning electron microscopy, and energy-dispersive x-ray spectroscopy (EDS). Levels of calcium and phosphorous were analyzed in the serum of all cases and in the aqueous humor of 1 case. Main Outcome Measures: Morphologic features and composition of deposits. Results: Two cases had congenital cataract while one case was after bilateral lens sparing vitrectomy for retinopathy of prematurity. All underwent surgery during infancy with implantation of an IOL. The IOLs were explanted 8 months after surgery from 4 eyes of 3 children at the age of 17, 25, and 26. All the children received a single-piece hydrophilic acrylic IOL. The IOLs were in situ for an average duration of 13.86 months. The deposits were in the shape of a bicycle wheel on 3 IOLs and looked like fish eggs on 1 IOL. All deposits stained bright orange with alizarin red. On EDS, the deposits were found to be composed of calcium, phosphate, and silicone. Conclusions: The morphologic features and composition of IOL deposits in 2 cases were similar to those of earlier reports in adults. The hydrophilic nature of the IOL material, sulcus implantation, and postoperative inflammation may be possible risk factors for opacification. Financial Disclosure(s): Proprietary or commercial disclosure may be found after the references. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the incidence and severity of retinopathy of prematurity (ROP) amongst surviving triplets., Methods: Records of preterm babies born to mothers with triplet pregnancies were retrieved from our Indian twin city ROP study database between 1 Jan 2000 and 31 Dec 2020 and analyzed., Results: 253 surviving triplet babies born to 108 mothers were evaluated. 48 out of 108 (44%) mothers received treatment for infertility. Data was available and analyzed for 242 babies (484 eyes). Mean gestational age was 31.76 ± 3.74 weeks (26- 38 weeks). The mean birth weight was 1.44 ± 0.37 kg (0.57-2.76 kg). At the first screening, incomplete vascularization was noted in 67% (131 babies;322 eyes) of which ROP was diagnosed in 14% (28 babies; 56 eyes). Among them, only 18 babies (53%) were the smallest birth weight babies in each of the triplet sets. Treatment with laser or bevacizumab was performed in 14 babies (5.8%), one eye of one baby additionally needed vitreoretinal surgical intervention. Good anatomical outcomes in terms of regression of ROP without sequelae were achieved in all babies., Conclusion: The present study reveals low incidence and favorable outcomes of ROP in triplet pregnancies in a large cohort of babies from a middle-income country. Our cohort did not show any difference in the treatment-requiring ROP among the larger or smaller birth weight babies of the same gestational age. In multiple pregnancies, gestational age remains a critical factor for ROP development; however, this does not necessitate modifying screening or treatment criteria in such triplet pregnancies., (Copyright © 2024 Copyright: © 2024 Indian Journal of Ophthalmology.)

Purpose: To determine the prevalence and clinical characteristics of patients with Duane retraction syndrome presenting with exotropia in a tertiary eye care center., Methods: Medical records of 140 patients with Duane retraction syndrome and exotropia (of the total 441 patients with Duane retraction syndrome) seen from 2000 to 2009 were reviewed. Characteristics studied included age at presentation, gender, laterality, manifest primary position, abnormal head posture, ocular motility, and overshoots. Data were collected regarding associated ocular or systemic abnormalities and amblyopia., Results: The mean age of the patients at presentation was 16.96 ± 15.09 years (range: 1 to 70 years). Of the 140 patients with Duane retraction syndrome and exotropia, 59 (42%) were male. Unilateral type I Duane retraction syndrome accounted for 118 (84.2%), type II for 7 (5%), and type III for 10 (7.1%) patients, whereas 5 (3.6%) had Duane retraction syndrome and bilateral exotropia. Duane retraction syndrome was seen in the left eye, right eye, and both eyes in 97 (69%), 37 (26%), and 6 (4%) patients, respectively. Exotropia ranged from 10 to 60 prism diopters. An abnormal head posture was noted in 101 (72%) and upshoot in 26 (18.6%) patients. Reported ocular and systemic abnormalities in these patients included cataract (6), aniridia (1), nasolacrimal duct block (1), and retinal breaks (1)., Conclusions: This is an exclusive study on a large series of patients with Duane retraction syndrome and exotropia. Almost one-third of patients with Duane retraction syndrome patients might have exotropia. Although patients with Duane retraction syndrome and exotropia had clinical characteristics and associations similar to those with Duane retraction syndrome and esotropia, there was an increased propensity for overshoots and face turn opposite to the affected eye, which the authors hypothesize to be due to a tight or short lateral rectus muscle. [J Pediatr Ophthalmol Strabismus. 2017;54(2):117-122.]., (Copyright 2017, SLACK Incorporated.)