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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]

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]

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]

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]