Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation

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.

Post-Ranibizumab injection endophthalmitis in aggressive posterior retinopathy of prematurity

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.

Retinopathy of prematurity in oculocutaneous albinism

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.

Hybrid clear corneal micro-incision surgical technique for stage 5 retinopathy of prematurity

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.

Short-term incidence and management of glaucoma after successful surgery for stage 4 retinopathy of prematurity

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.

Ocular auto-stimulation and its morbidity in stage 5 retinopathy of prematurity

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.

Surgical outcomes of immediate sequential bilateral vitreoretinal surgery for advancing retinopathy of prematurity

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.

Multimodal imaging of torpedo-shaped fundus lesions: New insights

The purpose of this case series is to describe the varied presentation of Torpedo lesions of the fundus and multimodal imaging features in three eyes of three patients. Two patients presented with typical topography, i.e., temporal to the fovea. One patient revealed lesion inferonasal to disc with the head pointing toward the disc. All three patients had an attenuation of outer retinal layers on optical coherence tomography. One patient showed an additional large subretinal cleft. Variable hypoautofluorescence in the area of the torpedo was noted. To conclude torpedo lesions can present at atypical locations, have both retinal and choroidal atrophy and head point toward the optic disc.

Bilateral proliferative retinopathy in B-cell acute lymphoblastic leukemia

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.

Mounier-Kuhn syndrome.

A variant of Mounier-Kuhn syndrome is reported where the patient had bronchiectasis with tracheo-bronchomegaly. The patient also had facial anomalies and asthenozoospermia. This combination has not been reported so far in the literature.

Do we need anti snake venom (ASV) for management of elapid ophitoxaemia.

Twelve patients of elapid ophitoxaemia presented with neuromuscular paralytic features were given anticholinesterase (Neostigmine) in recommended dosage. In four of these patients, despite neuromuscular paralysis, no ASV was used. All these four patients survived. In eight patients, ASV was used; in three of whom it used in doses less than 50 units, yet patients survived. Of the remaining five, despite use of ASV in higher doses (more than 50 units), two succumbed to death. Eight patients required ventilatory support. Hence, in absence of any definite role of ASV in management of elapid ophitoxaemia (snake bite), use of anticholinesterase drugs alone, with good supportive care and prevention of likely complications, can result in satisfactory outcome.

Duane's retraction syndrome with facial hemiatrophy (a case report).

This report deals with a young girl with Duane's retraction syndrome who also had left facial hemiatrophy (Parry-Romberg syndrome). Report of such an association is probably first of its type to be documented in literature.