Retinopathy of prematurity in triplets - Indian twin city ROP study report number 12.

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.

Septo-Optic Dysplasia: A Case Series of 33 Patients.

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.

Double-bellied inferior rectus muscles with aplasia of medial rectus muscles.

This report describes a rare occurrence of double-bellied inferior rectus muscle with aplasia of the medial rectus muscle in both eyes of a young woman seeking cosmetic correction for her strabismus. The patient presented with a large-angle exotropia and a -4 limitation of adduction in each eye. On attempted adduction, there was minimal downshoot and upper eyelid retraction. Magnetic resonance imaging of the orbit revealed hypoplastic medial rectus muscles; however, intraoperatively the muscle was not found at the insertion or when traced back as far as possible. The inferior rectus muscles were noted to have double bellies converging close to each other at the insertion. The patient underwent a bilateral lateral rectus recession with nasal transposition of the inferior rectus muscles and was cosmetically well aligned, with a residual exotropia of 4Δ at 3 months' follow-up. This unusual anatomical variation may be the result of deviation of muscle paths.

Effect of Light Intensity on the Relative Afferent Pupillary Defect in Unilateral Neuro-ophthalmic Pathology.

SIGNIFICANCE: Objective pupillometry with standardized light intensities allows a comprehensive assessment of the relative afferent pupillary defect in patients with unilateral neuro-ophthalmic pathology. PURPOSE: This study aimed to determine the impact of varying light intensities on the grade of relative afferent pupillary defect in unilateral neuro-ophthalmic pathology vis-à-vis healthy controls. METHODS: Monocular pupillary light reflexes of 20 controls (14 to 50 years) and 31 cases (12 to 72 years) with clinically diagnosed relative afferent pupillary defect were measured thrice using 1-second-long light pulses, followed by 3 seconds of darkness, at eight light intensities (6.4 to 1200 lux) using objective pupillometry. The relative afferent pupillary defect was quantified as the ratio of the percentage change in the direct light reflexes of the left and right eyes. Its change with light intensity was described using standard exponential fits. RESULTS: The median (25th to 75th interquartile range) defect score of 54.8% cases decreased from baseline values of 1.58 (1.25 to 1.87) for right eye pathology and 0.45 (0.39 to 0.55) for left eye pathology to saturation values of 1.18 (1.05 to 1.31) and 0.98 (0.95 to 1.06), respectively, at light intensities between 56.9 and 300.5 lux. Like controls (1.01 [1.00 to 1.06]), the defect scores of the remaining 45.2% cases were constant with light intensity at 1.23 (1.18 to 1.46) and 0.87 (0.86 to 0.89) for right and left eye pathologies, respectively. CONCLUSIONS: Relative afferent pupillary defects may decrease with test light intensity in a significant proportion of patients with unilateral neuro-ophthalmic pathology. This highlights the importance of objective pupillometry with standardization light intensities for clinical assessment of afferent pupillary defects.

Characteristics of facial nerve palsy in 112 children and risk factors for ocular complications.

PURPOSE: To report the ophthalmic findings and ocular complications in a large cohort of pediatric patients with facial nerve palsy (FNP). METHODS: Ocular data of children (≤16 years of age) diagnosed with FNP presenting to an eye care network from 2012 to 2021 were analyzed. Study parameters were etiology of FNP, ocular and imaging findings, degree of lagophthalmos, and degree of vision loss. Clinical characteristics were compared between those with and without moderate-to-severe vision impairment (best-corrected visual acuity <20/50) and those with and without exposure keratopathy at presentation. RESULTS: A total of 112 patients were included. Mean age at presentation was 8.3 ± 5.0 years. The most common etiology was idiopathic (57%) followed by congenital (22.3%) and traumatic (13.4%). There was bilateral involvement in 8% of children, multiple cranial nerve involvement in 15.2%, and exposure keratopathy at presentation in 38.4%. One-fifth (20.5%) of children (29.6% of affected eyes with known visual acuity) had moderate-to-severe visual impairment. Multiple cranial nerve involvement was present in 31% of eyes with visual impairment compared with 14% of those without. Corneal scarring and strabismic amblyopia were both frequent causes of visual impairment. Most children with exposure keratopathy had lagophthalmos (76.6%), whereas it was less common in those without keratopathy (49.2%). CONCLUSIONS: Pediatric FNP was most commonly idiopathic, secondarily congenital. Strabismic amblyopia and corneal scarring were the most common causes of visual impairment in our cohort.

Pediatric Pasteurella canis endophthalmitis.

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.

Oculo auriculo vertebral spectrum and CHARGE association.

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.

Strabismus in pediatric orbital wall fractures.

Purpose: To assess the clinical profiles and outcomes of strabismus in pediatric patients with orbital wall fractures. Methods: A retrospective interventional study of all consecutive children of age ≤16 years who presented with traumatic orbital wall fractures with and without resultant strabismus was conducted. The details of patient demographics, clinical features, interventions, and outcomes were obtained. Results: Forty-three children presented with traumatic orbital fractures to a tertiary care center. The mean age at presentation was 11 years and there was a male predominance (72.09%). Isolated floor fracture involvement was the most common (n = 24, 55.81%), and almost half of the children had a white-eyed or trapdoor fracture (n = 21, 48.83%). Twenty-six (60.46%) children had surgical repair of fracture(s). Manifest strabismus following orbital fracture was documented in 12 children (27.90%). Of these, an exotropia was noted in seven (58.33%), hypotropia in two (16.67%), hypertropia in one (8.33%), and esotropia in one patient (8.33%), while an exotropia with hypotropia was noted in one patient (8.33%). Restrictive nature of strabismus due to either muscle entrapment or local trauma was more commonly observed in 11/12 patients (91.66%). Primary position diplopia before orbital wall fracture repair was observed in four children and after repair was observed in two children with manifest strabismus. Four children underwent strabismus surgery post-fracture repair. Conclusion: An improvement in strabismus and ocular motility was noted in majority of the patients after fracture repair. The few that underwent strabismus surgery had a restrictive nature of strabismus. Trapdoor fractures and the nature of trauma in children vary compared to adults. Persistence of strabismus may be due to an excessive time interval between trauma and fracture repair or the extensive nature of trauma.

Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature.

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.

Congenital anomalies of lens shape.

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.

Phenotypic variations in ocular features among siblings with oculocutaneous albinism.

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.

Clinical and Genetic Profile of Leber's Hereditary Optic Neuropathy in a Cohort of Patients From a Tertiary Eye Care Center.

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.].

Timing of surgery in essential infantile esotropia - What more do we know since the turn of the century?

This review summarizes the results and interpretations of studies pertaining to the long-standing debate regarding the timing of surgery in infantile esotropia, more recently referred to as essential infantile esotropia. A systematic search of studies from the year 2000 onward pertaining to the timing of surgery in infantile esotropia as listed in PubMed, Google Scholar, and the Cochrane database was performed. Appropriate cross-references from the articles were also included. Data collected included demographics, presentation, time of surgery, complications, and outcomes. Very early surgery, that is, within 6 months of the onset of infantile esotropia, offers significant advantages in terms of the quality of stereopsis and binocular vision as well as promoting the development of cortical visual processing, thereby benefiting cortical development in human infants. However, the postoperative alignment was not found to be significantly different in the very early, early, or late surgery groups. The reduction in the incidence of manifest dissociated vertical deviation postoperatively in the very early surgery group also showed measurable benefits. The results of this recent literature review demonstrated that very early surgery, within 6 months of misalignment, showed demonstrable benefits in essential infantile esotropia.

Clinical Profiles and Surgical Outcomes of Strabismus Following Orbital Wall Fractures: A Large Cohort From a Tertiary Eye Care Center.

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.].

Herpes Simplex Virus Anterior Uveitis in a Child Presenting as a Hypopyon in a White Eye.

PURPOSE: To report a rare ocular presentation of unilateral anterior uveitis with hypopyon in a 5-year-old child, suspected as masquerade. METHODS: Retrospective report. RESULTS: 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. CONCLUSION: 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.

Optic Nerve Aplasia.

OBJECTIVE: Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. METHODS: Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. RESULTS: Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. CONCLUSION: ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Xerophthalmia due to vitamin A deficiency following Frey's procedure for chronic calcific pancreatitis.

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 3 months 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 high-dose 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.

Isolated Oculomotor Neuritis After Dengue Fever.

ABSTRACT: 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.

Paediatric Horner Syndrome: How much further to investigate?

We report an infant with an early-onset Horner syndrome and normal urinary catecholamine levels. Further investigations with Nuclear medicine imaging with123I-MIBG (meta-iodo benzyl-guanidine) confirmed a right thoracic inlet mass consistent with a neuroblastoma, a tumor of neural crest origin. The authors emphasize the need for investigating idiopathic acquired pediatric Horner syndrome and the value of an MIBG scan as a diagnostic test for suspected neuroblastoma.

Pivoting to teleconsultation for paediatric ophthalmology and strabismus: Our experience during COVID-19 times.

PURPOSE: The objective is to analyse and report the data of teleconsultations provided to paediatric ophthalmology and strabismus patients during COVID-19 times and to elaborate our experience for guiding future teleconsultation practices to General, paediatric Ophthalmologists and Strabismologists. METHODS: Retrospective analysis of electronic medical record data of teleconsultations provided in the department of Strabismus, Paediatric and Neuro-ophthalmology was done. Patients with optic nerve related disorders were excluded. Study period was one month. Statistical analysis of collected data was done using Microsoft excel. RESULTS: A total of 198 patients were provided teleconsultations (an average of seven teleconsultations/day). The final analysis included 161 patients after excluding optic nerve related disorders. The median age was seven years. We had a near equal gender distribution (53% males and 47% females) of whom a third were new cases. Video calling was used in 14%, review of clinical photos shared was used in 53%. Rest of the 33% were given telephonic advice. Allergic conjunctivitis (14%), pseudophakia (9%), strabismus (12%), status post strabismus surgery (8%), cranial nerve palsies (11%) were common diagnoses. 19% (n = 30) were advised/needed visit in emergency services on same or next day. CONCLUSION: Our experience of teleconsultation during COVID-19 times for paediatric ophthalmology and strabismus patients was very encouraging. Pivoting teleconsultation platform can provide primary eye care to most of the patients and work as essential forward triage for rest. As we continue to further explore the currently available avenues in multimedia such as video conferencing and web/mobile based applications, we believe that tele-ophthalmology platform can provide a reliable service in patient care.