摘要
A 3-year-old girl presented with bilateral asymmetrical partial heterochromia of iris and fundus. The parents also complained of bilateral hearing loss in the child. Suspecting an auditory-pigmentary syndrome, systemic and genetic evaluation was performed. The child had profound sensory-neural hearing loss. Targeted gene sequencing revealed a novel nonsense variation in exon 9 of the MITF gene (chr3:70008440A>T) that was pathogenic for Waardenburg syndrome (WS) type 2A. This case highlights the characteristics of the iris and fundus hypochromia, which may provide a clue toward the diagnosis of WS.
摘要
Purpose: To determine the effect of ultra-widefield fluorescein angiography (UWFFA)-guided targeted retinal photocoagulation (TRP) in branch retinal vein occlusion (BRVO) with macular edema after intravitreal Ranibizumab (RBZ). Methods: 33 eyes of 32 treatment naïve patients diagnosed as BRVO with macular edema were prospectively randomized to 0.5 mg Ranibizumab only (RBZ group) (n = 17) or Ranibizumab with UWFFA-guided laser (RBZ + TRP group) (n = 16). Both groups received three injections at monthly intervals and PRN henceforth. RBZ + TRP group additionally underwent UWFFA-guided TRP of peripheral capillary nonperfusion areas 1 week post injection. Outcome measures included improvement in visual acuity, central subfoveal thickness (CST), and the number of injections required with a minimum follow-up of 9 months. Results: Both groups showed significant improvement in mean BCVA (25.7 ± 8.19 letters, P < 0.001 vs. 23.38 ± 7.56 letters, P < 0.001; in RBZ and RBZ + TRP group, respectively) and reduction in mean central subfoveal thickness (379.12 ± 242.7 ?m, P < 0.001 vs. 253.75 ± 137.9 ?m, P < 0.001 in RBZ and RBZ + TRP group, respectively) at 9 months. The number of injections in the RBZ group (5.76 ± 1.3) was significantly greater than RBZ + TRP (4.06 ± 0.99) (P < 0.001). Both groups had significant improvement in contrast sensitivity and mean deviation on visual fields; however, the difference between the groups was not significant (P = 0.62 and P = 0.79, respectively). Conclusion: UWFFA-guided TRP reduced the number of injections of Ranibizumab in patients having BRVO with macular edema, while maintaining similar benefits in the improvement of BCVA, central subfoveal thickness without deleterious effect on the visual field, and contrast sensitivity.
摘要
A preterm infant with zone 1 aggressive posterior retinopathy of prematurity developed infectious endophthalmitis after intravitreal injection of ranibizumab. Urgent empirical intravitreal therapy with vancomycin, ceftazidime, and dexamethasone along with intravenous therapy with amikacin and meropenem helped in early resolution. Vascularization/activity of disease subsided on follow-up, media cleared, and laser photocoagulation was completed. Later the disease reactivated, developed vitreous membranes and central retinal traction, for which 25-gauge lens-sparing vitrectomy was performed. Emergent treatment helped in salvaging the eye from both aggressive ROP disease and devastating endophthalmitis. Rationale approach to such a case is being discussed.
摘要
We report a case of retinopathy of prematurity (ROP) in an infant with oculocutaneous albinism (OCA), with the challenges faced in diagnosis, and subsequent management. Poor fundus contrast and blanching of retinal vessels on indentation caused significant visualization problems in detection of ridge and extraretinal vessel proliferation. Careful examination revealed zone 2 Stage 3 ROP with preplus disease in both eyes. Laser photocoagulation was attempted, but laser uptake was poor. The disease regressed over 3-week close follow-up. ROP along with OCA is a rare finding. There is a need for high index of suspicion and caution while screening and managing such babies.
摘要
A safe technique for entry incisions and closure in stage 5 retinopathy of prematurity (ROP) surgery is being described. Three 23G clear corneal incisions are made which allow for safe and snug entry of 25G calibrated infusion and 25G instruments for performing lensectomy, membrane removal and vitrectomy. At the end of surgery, air is injected and corneal entries are hydrated for sutureless closure. The technique was performed in 50 eyes of 36 children with stage 5 ROP. The hybrid technique ensured safe entry and exit with stable anterior chamber during surgery. None of the cases developed retinal breaks during surgical entry nor had any complications such as hypotony, flat anterior chamber, hyphaema or corneal edema in post operative period. Clear corneal entry using 23G incisions for 25G instrument access is a safe and effective technique for performing lensectomy and vitrectomy with sutureless closure in cases with stage 5 ROP.
摘要
Purpose: The purpose of this study is to describe the short-term incidence, clinical features, and management of glaucoma in children after successful surgery for stage 4 retinopathy of prematurity (ROP). Methods: The retrospective study included all eyes undergoing successful surgery for stage 4 ROP with good outcomes at a tertiary eye care center between June 2014 and June 2016. Cases developing postoperative glaucoma underwent examination under anesthesia for measurement of intraocular pressures (IOP), corneal diameters, Retcam-assisted fundus imaging, and gonioscopy. Outcomes of glaucoma management were evaluated. Results: Hundred eyes of 70 babies underwent successful surgery for stage 4 ROP (with postoperative attached retina, and minimal sequelae) with minimum follow-up of 15 months. Six eyes (6%) developed postoperative glaucoma. Of these, four eyes had undergone lens-sparing vitrectomy and two were managed with lensectomy and vitrectomy (LV). Median time duration for development of glaucoma after primary vitreous surgery was 17.5 weeks. Two cases could be managed with topical IOP-lowering agents alone, whereas four required filtering surgeries (trabeculotomy with trabeculectomy and 0.04% mitomycin C [MMC] application). Average IOP decreased from 25 ± 2.36 to 12.2 ± 2.05 mmHg at 12 months from glaucoma diagnosis. Conclusion: Glaucoma is a potential adverse event following successful vitreous surgery for stage 4 ROP. A combined trabeculotomy–trabeculectomy along with MMC gives favorable outcome.
摘要
Purpose: To evaluate the characteristics and morbidity due to ocular auto-stimulation (OAS) in stage 5 Retinopathy of Prematurity (ROP). Methods: Stage 5 ROP cases presenting to ROP clinic of a tertiary care centre from January 2017 to December 2017 were recruited. Eye-pressing was elicited on history from parents and categorized as infrequent (performed <50% of waking time) or frequent (?50% of time). B-scan ultrasonography was performed for configuration of retinal detachment (open or closed funnel). Keratometry was performed in eyes undergoing vitrectomy under general anaesthesia using automated hand-held keratometer. The outcome measures were the presence and characteristics of OAS, enophthalmos, corneal opacity and keratometry values. Results: Out of 93 eyes of 49 babies, 78.5% (n = 73) had OAS. Gestational age, birth weight, sex, retinal funnel configuration, and visual function did not significantly affect OAS. However, post-conceptional age was significantly greater in eyes with OAS (95% CI: 63.1 to 69.9 weeks) than those without OAS (95% CI: 52.4 to 63.4 weeks) (P = 0.018). OAS occurred frequently in 32.8% (n = 24/73) eyes, more commonly in eyes with light followability. Keratometry did not differ significantly with the presence of OAS (P = 0.88). Enophthalmos, corneal opacity, posterior synechiae were noted in 79.5% (58/73), 21.9% (16/73), and 28.8% (21/73) eyes with OAS, respectively. Enophthalmos occurred significantly in eyes with OAS (P = 0.001), while corneal opacity and posterior synechiae did not (P = 0.071 and 0.91, respectively). Conclusion: OAS and its resultant morbidity are common occurrences in stage 5 ROP. The post-conceptional age and residual visual function may govern the characteristics of OAS.
摘要
Purpose: Bilateral eye surgery in the same session may be required for advancing stage 4 retinopathy of prematurity (ROP). The purpose of this study was to evaluate the outcomes of immediate sequential bilateral vitreoretinal surgery (ISBVS) in stage 4 ROP. Methods: In a retrospective interventional study at a tertiary care center, 60 eyes of 30 infants who underwent ISBVS for stage 4 ROP between December 2015 and May 2017 were studied. In cases with clear retrolental access, 25G or 27G lens sparing vitrectomy (LSV) was performed and in the rest 25G lensectomy with vitrectomy (LV) was performed through clear corneal entries. The final anatomical outcome measures were the status of tractional retinal detachment (TRD) and macular status. Results: The mean gestational age was 28.4 ± 2.0 weeks and birth weight was 1214.5 ± 329.7gms. The mean postconceptional age at surgery was 40.8 ± 2.2 weeks. Stages 4a and 4b were present in 86.7% and 13.3% eyes respectively. LSV was performed in 95% eyes whereas LV was performed in the rest. None of the eyes developed lens touch, choroidal hemorrhage, postoperative hypotony, corneal decompensation, or endophthalmitis. At last follow-up (mean 45 weeks, range 20–68 weeks), macula was attached in 90% eyes with the TRD resolved completely in 61.7% eyes and significantly decreased in another 25% eyes. Sequalae included macular drag, epiretinal membrane, and progression to fibrotic stage 5 disease. Conclusion: ISBVS is safe and effective for bilateral stage 4 ROP and should be recommended in rapidly progressive cases.
摘要
Purpose: To compare the outcomes of conventional laser photocoagulation versus additional posterior barrage laser in advanced stage 3 retinopathy of prematurity (ROP). Methods: A total of 20 infants with bilateral symmetric zone 2 stage 3 advancing ROP were treated with conventional laser treatment followed by randomization of one eye to receive additional posterior retinal laser treatment. Disc–fovea and inter-arcade distance was measured. The patients were followed up prospectively for 3 months. Structural and functional outcomes and safety profile were analyzed. Results: 18/20 (90%) eyes in the study group and 19/20 (95%) eyes in the control group achieved regression of disease. Faster and complete regression was observed at 4 weeks after posterior laser compared to the control group (P = 0.024). Disc–fovea and inter-arcade distance was comparable in both groups. Conclusion: Additional posterior barrage laser is a safe technique that led to faster and more complete regression in eyes with advancing ROP. Final regression profile was comparable in both treatment modalities.
摘要
Background: The objective of the current study to find out the maternal risk factors associated and spectrum of involvement of multiorgan dysfunction in perinatal asphyxia.Methods: This is a prospective study comprises of 102 asphyxiated neonates. At the time of admission blood samples were taken for complete blood picture, random blood sugar, serum electrolytes, septic screen & blood culture. For the assessment of the central nervous system a neurosonogram would be carried out in all asphyxiated new-borns. Computed tomography scan was done who had abnormal neurosonogram. Chest x ray was done for all respiratory cases. Echocardiogram was done for cardiac assessment. Renal system evaluated by serum creatinine and urine output.Results: Of these 102 babies, 59 were males and 43 were females. Major risk factors in the study were meconium stained amniotic fluid cases, eclampsia, pregnancy induced hypertension, premature rupture of membranes and prolonged second stage of labour. central nervous system (CNS) involvement occurred in all 102 (100%) neonates. Hypoxic ischemic encephalopathy was the most common presentation of CNS involvement. Respiratory involvement was noted in 42 (41.5%). Renal involvement was seen in 27 (26.5%). Cardiovascular system involvement was observed in 26 (25.5%). Gastrointestinal involvement was observed in 16 (15.68%). Hematological abnormalities were seen in 14.7%.Conclusions: Multiorgan dysfunction is common in neonates with perinatal asphyxia. Overall mortality was 24.5%, which clearly indicates the need for early detection of maternal risk factors, better obstetric management and the prompt resuscitator measures.
摘要
Purpose: The purpose of this study is to provide normative database for subfoveal choroidal thickness in Indian eyes using swept-source optical coherence tomography. Methods: This is a cross-sectional study based at a tertiary eye care center in Northern India. Two hundred and thirty eight eyes of 119 healthy subjects were examined in terms of axial length, spherical equivalent, and choroidal thickness. Inclusion criteria included age 19� years, no retinal or choroidal disorder, and patients with clear media and good fixation. Patients with high hypermetropia (>4 D) or myopia (>6 D) or any systemic disease likely to affect choroidal thickness were excluded. Twelve radial line scans were obtained centered on the fovea that were used to calculate choroidal and retinal thickness in 9 early treatment diabetic retinopathy study (ETDRS) zones. Results: The mean age of all the subjects was 28.70 � 11.28 years; mean axial length was 23.63 � 1.96 mm, and mean spherical equivalent was ? 0.92 � 3.08 D. The mean subfoveal choroidal thickness was 299.10 � 131.2 ? and mean foveal thickness was 239.92 � 48.16 ?. A negative correlation was found between subfoveal choroidal thickness and age (r = ?0.0961, P = 0.1392) and axial length (r = ?0.3166, P < 0.001). A statistically significant positive correlation was found between subfoveal choroidal thickness and refractive error (r = 0.2393, P = 0.0002). Conclusion: This study provides normative database for subfoveal choroidal thickness and foveal thickness using swept-source optical coherence tomography. The choroidal thickness measured with swept-source platform is slightly higher than that reported with spectral domain platforms.
摘要
Chronic granulomatous disease (CGD) is a life threatening inherited disorder with varied clinical presentations often characterized by recurrent bacterial and fungal infections along with widespread granulomatous tissue response. The disease results from phagocytic defects characterized by deficiencies in oxidative burst of neutrophils. Nitroblue tetrazolium reduction test (NBT) and Dihydrorhodamine (DHR) with PMA stimulation by flow cytometry are quick, simple, sensitive and specific laboratory tests that help establish early and reliable diagnosis of CGD with an overall improvement in survival and disease prognosis. We report a case of 2-year old child who presented with small bone osteomyelitis involving bilateral feet and was later diagnosed to have autosomal recessive CGD due to mutation in NCF1 gene.
摘要
Two eyes of 2 patients with macular hole-associated retinal detachment in clinically diagnosed vitelliruptive stage of Best vitelliform dystrophy were surgically managed by 25-gauge sutureless pars plana vitrectomy, internal limiting membrane (ILM) peeling with inverted ILM flap, and short-acting (SF6) gas tamponade. The patients were assessed with respect to best-corrected visual acuity, color fundus photographs, shortwave fundus autofluorescence, and swept source optical coherence tomography. Surgical intervention led to Type 1 closure of macular hole, resolution of retinal detachment, and improvement in vision in both patients.
摘要
A 4-year-old child with B-cell acute lymphoblastic leukemia presented with vitreous hemorrhage due to proliferative retinopathy in both eyes. Pars plana vitrectomy was performed in both eyes to clear nonresolving vitreous hemorrhage after systemic stabilization. Visual recovery was limited by the disc drag in the right eye and subfoveal exudation in the left eye. Etiopathogenesis and management of proliferative retinopathy in acute leukemias are discussed.
摘要
Background: The ability of microorganisms to evade antibiotic pressure is challenging in healthcare as patients have little or no drug treatment options. Detection of the prevalence of antibacterial resistance pattern helps towards improved antibiotic policy and empirical treatment. Objectives: We carried out antibiogram profiling and documented the prevalence and co-prevalence of New Delhi metallo-β-lactamase (NDM) and extended spectrum β-lactamases (ESBL) encoding genes in urinary Escherichia coli and Klebsiella pneumonia isolates. Materials and Methods: Antibiotic susceptibilities were tested for 241 isolates of E. coli and K. pneumoniae from urine samples collected from out- and hospitalised patients. Polymerase chain reaction (PCR) was carried out on isolates tested positive for phenotypic production of metallo-β-lactamase and ESBL. A multiplex PCR assay was designed to detect the genes. Results: Multiplex PCR assay designed had a limit of detection of 103 CFU/mL in vitro. NDM detected was significantly higher among K. pneumoniae compared to E. coli (69.2% vs. 18.2%; P = 0.001). Of 17, 14 NDM positive isolates also harboured ESBL genes. The co-production of CTX-M + TEM + NDM (3/9; 33.3% and 5/8; 62.5%) was most common in K. pneumoniae and E. coli, respectively while CTX-M + TEM + SHV + NDM was found in one isolate. Of the 156 phenotypically ESBL producing isolates, CTX-M, TEM and SHV was detected by PCR in 85, 53 and 24 isolates, respectively. Conclusion: NDM and ESBL co-producing isolates were both community (64.7%) and hospital (35.29%) acquired among E. coli. Antibiotic resistance can be effectively evaluated by a cost and time effective molecular method, such as the multiplex PCR used in this study, which complement culture and sensitivity tests.
摘要
Pathologic fractures in children may be due to various causes. Rarely, it may be the presenting symptom of neurofibromatosis. A misdiagnosis of Rickets and Vitamin D supplementation in such a case may wreak havoc in the form of iatrogenic hypervitaminosis D. We report one such case.
摘要
Background: There has been sparse description of cortical dysplasias (CDs) causing intractable epilepsy from India. Aim: Clinical retrospective study of CDs causing intractable epilepsy that underwent surgery. Materials and Methods: Fifty-seven cases of CDs reviewed (1995 till July 2006) are presented. All patients had intractable epilepsy, and underwent a complete epilepsy surgery workup (inter ictal electroencephalography (EEG), video EEG, MRI as per epilepsy protocol, SPECT {interictal, ictal with subtraction and co-registration when required}, and PET when necessary). Surgical treatment included a wide exposure of the pathology with a detailed electrocorticography under optimal anesthetic conditions. Mapping of the sensori-motor area was performed where indicated. Procedures included resection either alone or combined with multiple subpial transactions when extending into the eloquent areas. Results: Our study had 28 (49.12%) cases of isolated focal CDs, and 29 (50.67%) with dual pathology. Average age at the time of onset of seizures in our series was 7.04 years (three months to 24 years), and average age at the time of surgery was 10.97 years (eight months to 45 years). Among coexistent pathologies, one had associated MTS, 16 had coexistent gangliogliomas and 12 (dysembryonic neuroepithelial tumor) DNTs. At an average follow-up of 3.035 years (range 5-10 years), three patients were lost to follow-up. Fifty-one per cent (29/57) patients had a good outcome (Engel Grade I) and 26%(15/57) had a Grade II outcome. Conclusion: Cortical dysplasias have a good outcome if evaluated and managed with concordant electrical and imaging modalities.
摘要
Ghosal type hemato-diaphyseal dysplasia is a recently described clinical entity. The authors describe such a case with severe anemia requiring transfusions and with clinical and radiological evidence of diaphyseal dysplasia. Very few such cases are reported in world literature.