Retinoblastoma (RB) is the most common malignant intraocular tumor in children. In the last decade, basic research has led to a better understanding of events after two hits in RB susceptibility gene (RB1), molecular mechanism of tumor growth, the cell of origin of RB, etc. This would pave way to identify biomarkers and molecular targeted therapy for better treatment option in the future. Furthermore, improvement in molecular techniques has led to enhanced diagnostic methods for early diagnosis, genetic counseling, and prevention of the disease. This review will help to understand the essence of basic research work conducted in recent times and its implication in the management of RB in the future.

Fungal infections of the orbit can lead to grave complications. Although the primary site of inoculation of the infective organism is frequently the sinuses, the patients can initially present to the ophthalmologist with ocular signs and symptoms. Due to its varied and nonspecific clinical features, especially in the early stages, patients are frequently misdiagnosed and even treated with steroids which worsen the situation leading to dire consequences. Ophthalmologists should be familiar with the clinical spectrum of disease and the variable presentation of this infection, as early diagnosis and rapid institution of appropriate therapy are crucial elements in the management of this invasive sino-orbital infection. In this review, relevant clinical, microbiological, and imaging findings are discussed along with the current consensus on local and systemic management. We review the recent literature and provide a comprehensive analysis. In the immunocompromised, as well as in healthy patients, a high index of suspicion must be maintained as delay in diagnosis of fungal pathology may lead to disfiguring morbidity or even mortality. Obtaining adequate diagnostic material for pathological and microbiological examination is critical. Newer methods of therapy, particularly oral voriconazole and topical amphotericin B, may be beneficial in selected patients.

Mycotic keratitis is a major cause of corneal blindness, especially in tropical and subtropical countries. The prognosis is markedly worse compared to bacterial keratitis. Delayed diagnosis and scarcity of effective antifungal agents are the major factors for poor outcome. Over the last decade, considerable progress has been made to rapidly diagnose cases with mycotic keratitis and increase the efficacy of treatment. This review article discusses the recent advances in diagnosis and management of mycotic keratitis with a brief discussion on rare and emerging organisms. A MEDLINE search was carried out for articles in English language, with the keywords, mycotic keratitis, fungal keratitis, emerging or atypical fungal pathogens in mycotic keratitis, investigations in mycotic keratitis, polymerase chain reaction in mycotic keratitis, confocal microscopy, treatment of mycotic keratitis, newer therapy for mycotic keratitis. All relevant articles were included in this review. Considering the limited studies available on newer diagnostic and therapeutic modalities in mycotic keratitis, case series as well as case reports were also included if felt important.

Purpose: To evaluate the correlation between lamina cribrosa (LC) morphology and glaucoma severity in patients with primary forms of open-angle glaucoma (OAG) using enhanced depth imaging spectral-domain optical coherence tomography (SD-OCT) and Humphrey visual field test (HVF). Subjects and Methods: Patients with OAG (n = 166), divided into normal-tension glaucoma (NTG) and high-tension glaucoma (HTG) groups (n = 66 and n = 100), were imaged using SD-OCT to obtain horizontal B-scan images of the optic nerve head (ONH). Laminar depth (LD) and laminar thickness (LT) were measured at the center of ONH. Results: The mean (±standard deviation) values of LD, LT, and visual field mean deviation (MD) were 555.4 ± 142.3 μm, 179.9 ± 49.7 μm, and − 5.7 ± 6.4 dB, respectively. In the multivariate linear regression analysis, LD, LT, and intraocular pressure (IOP) were significantly correlated with MD (P = 0.007, P = 0.037, and P = 0.004, respectively). In the subgroup analyses, only LD was associated with MD in the NTG group (n = 66), whereas LT and IOP were correlated with MD in the HTG group (n = 100). Neither axial length nor central corneal thickness was associated with LD or LT. Conclusions: Glaucoma severity, as measured by HVF MD, shows significant correlations with LD and LT, with greater severity associated with increasing LD and decreasing LT. Normal- and high-tension OAG patients have different associations with LD and LT, which implies that the pathogenesis of these two entities might be different.

Background: Congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. Although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of many cataract patients remain unknown. In this study, the aim is to identify the genetic cause of a five-generation Chinese autosomal dominant congenital cataract family. Methods: Whole exome sequencing (WES) was performed on three affected and one unaffected member of the family, known causative genes were scanned first. Sanger sequencing was used to validate co-segregation of the candidate variant in the family. The impact on the transcript and amino acid sequences of the variant was further analyzed. Results: We identified a novel splice donor site mutation c. 2825+1G >A in EPHA2 that was absent in public and in-house databases and showed co-segregation in the family. This variant resulted in an altered splice that led to protein truncation. Conclusions: The mutation we identified was responsible for congenital cataract in our studied family. Our findings broaden the spectrum of causative mutations in EPHA2 gene for congenital cataract and suggest that WES is an efficient strategy to scan variants in known causative genes for genetically heterogeneous diseases.

Purpose: To present challenging cases of vitreoretinal lymphoma (VRL) that was misdiagnosed as uveitis because of the apparent intraocular inflammation. At the light of the new classification of intraocular lymphomas, we detail the characteristics that masqueraded the tumors and the clinical aspects that guided us to the correct diagnosis. Materials and Methods: We retrospectively reviewed the patients referred to our uveitis service between January 2006 and December 2014. Results: Seven patients referred with a presumptive diagnosis of idiopathic uveitis received a final diagnosis of VRL. The median time between the onset of symptoms and definitive diagnosis was 25 months for these complex cases. The median time from presentation at our clinic to final diagnosis was 1 month. The described clinical features including dense vitreous cells and subretinal infiltrates were characteristic and tend to be present in all these chronically ill patients. Vitreous samples were collected, and all demonstrated the pathognomonic tumor cells, the specific immunoglobulin heavy chain gene rearrangements, and an interleukin (IL)-10 to IL-6 ratio >1. Conclusion: VRLs are severe diseases with a poor prognosis that may be misdiagnosed as idiopathic inflammatory conditions of the eye. Treatment with steroids may occult the tumors and delay the correct diagnosis. Appropriate evaluation may prompt to a timely vitreous sampling and therefore to a faster diagnosis in these peculiar cases where the correct diagnosis was delayed by several months.

Purpose: To study the efficacy of intravitreal interferon alpha-2b for endotoxin-induced uveitis. Materials and Methods: A total of 36 rabbits were randomly allocated to one of the three groups: (1) received interferon plus balanced-salt solution; (2) received lipopolysaccharide (LPS) plus interferon; and (3) received LPS plus balanced-salt solution. Intraocular inflammation was evaluated by slit-lamp biomicroscopy (standardization of uveitis nomenclature grading), binocular indirect ophthalmoscopy (BIO) score, and histopathology. Results: Group 2 showed significantly lower mean (±standard deviation) anterior chamber reaction than Group 3 (3.1 ± 0.9 vs. 3.8 ± 0.4) on day 1 postinjection, lower vitreous cells on days 1 through 7 (day 1: 3.1 ± 0.9 vs. 3.8 ± 0.4; day 3: 2.1 ± 1.6 vs. 3.8 ± 0.4; day 7: 1.9 ± 1.3 vs. 3.6 ± 0.7), and lower BIO score on days 1-7 (day 1: 3.3 ± 1.2 vs. 4.4 ± 0.7; day 3: 3.0 ± 1.4 vs. 4.3 ± 0.9; day 7: 2.4 ± 1.4 vs. 3.7 ± 1.2). The protein content of anterior and vitreous aspirates was lower in Group 2 than 3 (1618.5 ± 411.4 vs. 2567.3 ± 330.8 and 2157.0 ± 283.3 vs. 3204.6 ± 259.5, respectively). Conclusion: Intravitreal interferon alpha-2b was effective in controlling endotoxin-induced uveitis.

Aim of study: The aim of this study is to assess wavefront aberration and contrast sensitivity (CS) after implantation of foldable iris claw - artiflex- and rigid iris claw - artisan- phakic intraocular lenses (pIOLs). Materials and Methods: A nonrandomized prospective comparative case study was performed on 57 eyes; of which, 54 were myopia and 3 were hyperopia. Twenty-four patients had artisan pIOL implantation and 33 had artiflex pIOL implantation. Higher-order aberration (HOA) and CS were obtained 1 year after surgery. Results: Total HOA in artisan group was greater than artiflex group (P = 0.044) with a mean HOA of 0.44 ± 0.15 root mean square (RMS) for artisan and 0.35 ± 0.15 RMS for artiflex. Although, there were no significant differences in the vertical trefoil, vertical coma, horizontal trefoil, horizontal coma, secondary astigmatism, quatrefoil, and fourth order spherical aberration in two groups. CS in mesopic conditions was better in artiflex-treated eyes at three spatial frequencies of 6, 12, and 18 cycles per degree (cpd) (P = 0.003, P = 0.007, and P = 0.00, respectively), and no significant difference was seen between two lenses at 3 cpd. Conclusion: Although the components of HOA were not significantly different between two groups, total HOA was higher in artisan group, which may be due to the slight differences in each component, increasing the HOA as a total. CS was significantly better in artiflex group.

Aim: To estimate the prevalence of visual impairment (VI) due to uncorrected refractive error (URE) and to assess the barriers to utilization of services in the adult urban population of Delhi. Materials and Methods: A population-based rapid assessment of VI was conducted among people aged 40 years and above in 24 randomly selected clusters of East Delhi district. Presenting visual acuity (PVA) was assessed in each eye using Snellen's "E" chart. Pinhole examination was done if PVA was <20/60 in either eye and ocular examination to ascertain the cause of VI. Barriers to utilization of services for refractive error were recorded with questionnaires. Results: Of 2421 individuals enumerated, 2331 (96%) individuals were examined. Females were 50.7% among them. The mean age of all examined subjects was 51.32 ± 10.5 years (standard deviation). VI in either eye due to URE was present in 275 individuals (11.8%, 95% confidence interval [CI]: 10.5-13.1). URE was identified as the most common cause (53.4%) of VI. The overall prevalence of VI due to URE in the study population was 6.1% (95% CI: 5.1-7.0). The elder population as well as females were more likely to have VI due to URE (odds ratio [OR] = 12.3; P < 0.001 and OR = 1.5; P < 0.02). Lack of felt need was the most common reported barrier (31.5%). Conclusions: The prevalence of VI due to URE among the urban adult population of Delhi is still high despite the availability of abundant eye care facilities. The majority of reported barriers are related to human behavior and attitude toward the refractive error. Understanding these aspects will help in planning appropriate strategies to eliminate VI due to URE.

The authors describe a case of congenital partial pupil-sparing third cranial nerve palsy with absent adduction, synergistic depression of globe and widening of palpebral fissure on attempted adduction and synergistic elevation and adduction on mouth opening and sideways thrusting of jaw. The case illustrates trigemino-oculomotor synkinesis associated with congenital third nerve palsy. The possible mechanism of miswiring involving the medial longitudinal fasciculus and trigeminal nuclei is discussed. At least some cases of congenital third cranial nerve palsy may fall in the realm of congenital cranial dysinnervation disorders (CCDDs) sharing a much wider spectrum of presentation.

In this communication, we report the case of a four year old boy who presented with reduced vision in the right eye. He had visual acuity of light perception right eye and 6/12 in the left eye and anterior segment examination was normal. Fundus examination of the right eye showed a falciform retinal fold extending from the optic nerve temporally involving the entire retina with exudates within the falciform fold and dense pigmentation peripherally. The left eye showed mild macular temporal dragging of the vessels and 360° of peripheral laser scars. In addition he also had some characteristic systemic features such as developmental delay, obesity, dysmorphic facies and tapered fingers. Using this case as an example, we present a systematic, logical approach to a patient with a possible genetic disorder. The growing field of ocular genetics now allows for improved diagnosis using step-wise cost efficient testing as demonstrated herein.

An 85-year-old male presented with painless bulging lesion over the cornea. Clinical history, diagnostic imaging studies, and histopathologic sections were evaluated. The patient clinically displayed an vascularized conjunctival lesion located at the superior bulbar conjunctiva with extension onto cornea covering 2/3 of his pupillary aperture superiorly. His visual acuity was counting fingers at 4 m. The patient underwent a total excision of the lesion including conjunctival and corneal parts. Histopathologic evaluation revealed spindle cell carcinoma which involves the whole conjunctival squamous epithelium with significant polarity loss, nuclear enlargement with hyperchromasia and pleomorphism, and mitotic activity. Diagnosis of spindle cell carcinoma is challenging because of overlapping histopathological features with other spindle cell tumors. The detailed pathologic examination is very important for the decision of proper treatment.