Preeti Patil Chhablani

Neuro-ophthalmic manifestations of prematurity

Increasing rates of preterm births coupled with better survival of these infants have resulted in higher prevalence of systemic and ocular complications associated with prematurity. In addition to retinopathy of prematurity, infants who are born preterm may suffer from severe visual impairment as a result of hypoxic ischemic encephalopathy, hypoglycemia, and other metabolic imbalances. The effect of these processes on the anterior visual pathway may result in optic atrophy, optic nerve hypoplasia or optic disc cupping and affection of the posterior visual pathway leads to cortical visual impairment (CVI). Other ocular associations include strabismus, nystagmus, and ocular motor abnormalities such as tonic down gaze and defective saccades and pursuits. Cortical and subcortical involvement also manifests as defects in functional vision and these have not yet been completely understood. Children with CVI may have visual field defects, photophobia, defective visual processing, and deficient color vision. Since most of these children also suffer from additional systemic disabilities, evaluation, and management remains a challenge. However, early diagnosis and initiation of rehabilitation therapy can prove to be of significant benefit in these children.

Cataract surgery in children with retinopathy of prematurity (ROP): surgical outcomes

Purpose To report the outcomes of cataract surgery in children with retinopathy of prematurity (ROP). Methods A retrospective case review of all children diagnosed with ROP from January 2001 to December 2014 was done and those who underwent cataract surgery were included in the study. Details of ROP and cataract treatment, postoperative complications and outcomes were analysed. Results Of the 2258 children diagnosed to have ROP, 28 eyes of 22 children were included, 14 boys and 8 girls. Mean age at cataract surgery was 18.9 months (range 2 months to 12 years). Most common grade of ROP was stage 4 (13 eyes). Nineteen eyes underwent retinal surgery, scleral buckle (one eye) and laser (three eyes). Five eyes showed spontaneous regression. Mean duration for the development of cataract postretinal surgery was 7.76 months (range 2–32 months). Nine eyes did not receive a primary intraocular lens (IOL). Intraoperative posterior capsular rupture occurred in two eyes. Postoperative complications included visual axis opacification (four), secondary glaucoma (two) and IOL capture (one). Postoperative visual acuity assessment was possible in 23 eyes, 11 had better than 20/200 vision. Eleven patients had a follow-up of at least 2 years and the mean myopic shift at 2 years was −3.07 D in pseudophakes and −8.75 D in aphakes. Conclusions Cataracts may develop in children with ROP regardless of the modality of intervention. Postoperative complications and refractive changes are similar to those in eyes without ROP.

Retinal Findings on OCT in Systemic Conditions

ABSTRACT Purpose: Imaging technology has advanced by leaps and bounds in the recent past and has resulted in a much greater understanding of ocular diseases. The aim of this review article is to summarize optical coherence tomography (OCT) findings of various systemic conditions. Method: A systematic literature search of the Medline/PubMed database was performed. English articles up to April 2015 were included. Terms used for search included: Alzheimer’s Disease; Multiple Sclerosis; Parkinson’s Disease; Behçet’s Disease; Schizophrenia; Migraine; Obstructive Sleep Apnea Syndrome; Neurofibromatosis; Sickle Cell Disease; Renal diseases; Lupus Retinopathy; Valsalva Retinopathy; Whiplash Retinopathy; Shaken-Baby Syndrome; Choroidal metastases; Intracranial Hypertension; Drug toxicity; Deferoxamine; Sildenafil; Tamoxifen; Hydroxychloroquine; Chloroquine; Ethambutol; Lead; Sickle Cell Disease; and Thalassemia along with OCT. Results: Studies have shown that inner retinal thinning could be the earliest sign of neurological diseases and may help to differentiate individuals with abnormalities. Outer retinal damage was noted in cancer-related retinopathy and secondary to drug toxicity as a diagnostic sign. This review article summarizes the OCT findings and their importance in early diagnosis, treatment, and follow-up in a varying spectrum of systemic diseases including neurological diseases, hematological diseases, cancer-related retinopathies, and systemic drug toxicity. Conclusion: OCT findings are useful to predict the probability of a disease, to diagnose it early, to differentiate between healthy and unhealthy tissue, and to assess the effect of therapeutic interventions in many systemic diseases.

Abnormal Complement Activation and Inflammation in the Pathogenesis of Retinopathy of Prematurity

Retinopathy of prematurity (ROP) is a neurovascular complication in preterm babies, leading to severe visual impairment, but the underlying mechanisms are yet unclear. The present study aimed at unraveling the molecular mechanisms underlying the pathogenesis of ROP. A comprehensive screening of candidate genes in preterms with ROP (n = 189) and no-ROP (n = 167) was undertaken to identify variants conferring disease susceptibility. Allele and genotype frequencies, linkage disequilibrium and haplotypes were analyzed to identify the ROP-associated variants. Variants in CFH (p = 2.94 × 10−7), CFB (p = 1.71 × 10−5), FBLN5 (p = 9.2 × 10−4), CETP (p = 2.99 × 10−5), and CXCR4 (p = 1.32 × 10−8) genes exhibited significant associations with ROP. Further, a quantitative assessment of 27 candidate proteins and cytokines in the vitreous and tear samples of babies with severe ROP (n = 30) and congenital cataract (n = 30) was undertaken by multiplex bead arrays and further validated by western blotting and zymography. Significant elevation and activation of MMP9 (p = 0.038), CFH (p = 2.24 × 10−5), C3 (p = 0.05), C4 (p = 0.001), IL-1ra (p = 0.0019), vascular endothelial growth factor (VEGF) (p = 0.0027), and G-CSF (p = 0.0099) proteins were observed in the vitreous of ROP babies suggesting an increased inflammation under hypoxic condition. Along with inflammatory markers, activated macrophage/microglia were also detected in the vitreous of ROP babies that secreted complement component C3, VEGF, IL-1ra, and MMP-9 under hypoxic stress in a cell culture model. Increased expression of the inflammatory markers like the IL-1ra (p = 0.014), MMP2 (p = 0.0085), and MMP-9 (p = 0.03) in the tears of babies at different stages of ROP further demonstrated their potential role in disease progression. Based on these findings, we conclude that increased complement activation in the retina/vitreous in turn activated microglia leading to increased inflammation. A quantitative assessment of inflammatory markers in tears could help in early prediction of ROP progression and facilitate effective management of the disease, thereby preventing visual impairment.

Bilateral Isolated Optic Nerve Colobomatous Cysts

Bilateral Isolated Optic Nerve Colobomatous Cysts A 3-year-old boy, with normal developmental milestones, presented with diminution of vision in both eyes. The visual acuity was 20/100 and 20/200 in right and left eye respectively. The child had bilateral high myopia ( 12.25 SE) with V-pattern exotropia. Fundus examination showed optic disc excavation with peripapillary atrophy in both eyes (A, B). Magnetic resonance imaging showed well circumscribed, nonenhancing cystic lesions in the proximal portion of both the optic nerves, as seen on T1 and T2-weighted axial (C, D), coronal and sagittal (E, F) scans, with no associated anomalies (C-F, arrows indicate the positions of the anomaly). A diagnosis of bilateral isolated colobomatous optic nerve cysts was made.