Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them. The disorder is clinically and genetically heterogeneous, with various primary and secondary clinical manifestations, and shows autosomal recessive inheritance and highly prevalent in inbred/consanguineous populations. The disease mapped to at least twenty different genes (BBS1-BBS20), follow oligogenic inheritance pattern. BBS proteins localizes to the centerosome and regulates the biogenesis and functions of the cilia. In BBS, the functioning of various systemic organs (with ciliated cells) gets deranged and results in systemic manifestations. Certain components of the disease (such as obesity, diabetes, and renal problems) when noticed earlier offer a disease management benefit to the patients. However, the awareness of the disease is comparatively low and most often noticed only after severe vision loss in patients, which is usually in the first decade of the patient's age. In the current review, we have provided the recent updates retrieved from various types of scientific literature through journals, on the genetics, its molecular relevance, and the clinical outcome in BBS. The review in nutshell would provide the basic awareness of the disease that will have an impact in disease management and counseling benefits to the patients and their families.

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This article describes the method to make a do it yourself smartphone-based fundus camera which can image the central retina as well as the peripheral retina up to the pars plana. It is a cost-effective alternative to the fundus camera.

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Th17 cells, a CD4⁺ T-cell subset, produce interleukin (IL)-17, a pro-inflammatory cytokine that has been shown to be involved in several forms of infectious and noninfectious uveitis. Here, we explore the roles of this IL in uveitic disorders as well as in experimental autoimmune uveitis, the possible pathogenic implications of several cytokines associated with IL-17 and analyze the current outcomes and goals for drugs aiming for the IL-17 pathway.

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The risk of endophthalmitis is always a concern when an intraocular procedure is performed. Intravitreal injection is a frequently used method for therapeutic management of many diseases, affecting the posterior segment of the eye. Hence, it is important to assess the risk of complications, especially endophthalmitis. Most studies conducted concentrate on risk assessment from single use from single drug vial. The present article reports the occurrence of cluster endophthalmitis following multiple intravitreal bevacizumab injections from a single vial. Intravitreal injection of bevacizumab was administered to eight eyes of eight patients. Administered dose was prepared from single 4-ml vial of bevacizumab and was injected in the eye, after patient preparation and under aseptic conditions. The procedure was repeated for the remaining patients, thereby imparting multiple pricks in the same vial. Four of the eight patients reported to the hospital on the 3rd day after injection with complaints of pain, watering, and diminution of vision. Two patients reported the following day with similar complaints. Two patients who did not report by the 4th day were contacted and recalled for an examination. All the patients were thoroughly examined using slit lamp biomicroscopy and indirect ophthalmoscopy. Six out of eight were clinically diagnosed to have endophthalmitis and were administered intravitreal antibiotics. The present report highlights possibility of microbial contamination of the drug vial or during compounding process. However, from the present incident, we are encouraged to stay vigilant and wary of contamination

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Purpose: In tropical countries, physicians are skeptic in using corneas with death-to-preservation time (DTPT) >6 h, concerns being endothelial cell viability and microbial contamination on prolonged DTPT. The objective of the study was to investigate these concerns by analyzing the outcomes of corneal transplants performed using donor corneas with DTPT >6 h. Materials and Methods: The study was a retrospective case series of 65 transplants performed in 2013 with donor corneas that had DTPT >6 h (range, 6.1–9.8 h). The information on donor cornea tissues and the recipient details were collected from the eye bank and the medical records department of our tertiary eye care center. The main outcome measures were slit lamp assessment of the donor corneas, primary graft failure, graft survival, and postoperative adverse reactions, especially infections, if any. Results: Median DTPT was 7 h. Forty-four (67.7%) corneas were evaluated as optical grade and 21 (32.3%) were deemed as therapeutic grade; 36 (55.4%) were used for optical indications. There was no relationship between DTPT and the tissue grading of corneas or endothelial cell density. Of the 23 keratoplasties for purely optical indications with a minimum follow-up of 3 months, 15 (65.2%) remained clear whereas 7 (30.4%) failed (mean follow-up 15.1 ± 6.7 months). The causes of failure were primary graft failure (n = 1) and secondary graft failure (n = 6). Conclusion: The donor corneas with DTPT 6 h to 10 h can be utilized for optical indications provided that they meet the criteria of tissue acceptance for optical use.

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Context: To evaluate the necessity of ocular screening in Type 1 diabetes mellitus (DM). Aims: This study aims to investigate the diabetes-related ocular changes according to the glycosylated hemoglobin (HbA1c) level and duration of diabetes in children and compare the results with nondiabetic healthy children. Settings and Design: Observational cross-sectional study designed by ophthalmology and pediatric endocrinology clinics. Subjects and Methods: Forty-two children with Type 1 DM, 42 healthy gender- and age-matched children as controls were enrolled. All patients underwent ophthalmic and physical examination, with a review of medical history and current medication. HbA1c level, best corrected visual acuity, intraocular pressure (IOP), central corneal thickness (CCT), tear break-up time (BUT), Schirmer test, dilated fundus examination findings, central retinal thickness (CRT), and total macular volume (TMV) measurements were noted. Statistical Analysis: Descriptive statistics, Student's t-test, Mann–Whitney U-test, Chi-square test for comparison of the group parameters and correlation analyses (Spearman analysis) were performed with SPSS statistical software 17.0 (SPSS Inc., Chicago, IL, USA). Results: Type 1 DM group exhibited significantly reduced Schirmer test, increased IOP and decreased retinal thickness relative to the age-matched control group (P < 0.05) but no statistically significant difference was found for the BUT (P = 0.182) and for the CCT (P = 0.495). The correlations between the age, duration, HbA1c and IOP, BUT, Schirmer test, TMV, CRT measurements did not reach statistical significance. Conclusions: More frequent screening may be needed for complications, including neuropathy-related dry eye syndrome, IOP changes, and diabetic retinopathy in children with Type 1 DM.

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Aim: The study aims to report a single trainee's experience of learning and performing endoscopic endonasal dacryocystorhinostomy (En-DCR). Settings and Design: This study was a retrospective, interventional case series. Subjects and Methods: Fifty-four eyes of fifty patients presenting at a tertiary eye care center over 1 year were included in the study. All cases underwent endoscopic DCR with mitomycin-C and silicone intubation. The parameters studied included demographics, clinical features, intraoperative details, and postoperative ostium evaluation. Stent removal and nasal endoscopy were performed at 6 weeks and a further ostium evaluation at 3 and 6 months following surgery. Anatomical success rate was defined as patent irrigation, and functional success rate was defined as positive functional endoscopic dye test and absence of epiphora. Results: Fifty-four eyes of fifty patients were operated, and three cases were lost to follow-up after surgery. The mean age at presentation was 34 (4–75) years. Clinical diagnosis included primary acquired nasolacrimal duct (NLD) obstruction in 72% (39/54), acute dacryocystitis in 15% (8/54), failed DCR in 7% (4/54), and persistent congenital NLD obstruction in 5% (3/54). The first five cases needed intervention by the mentor for superior osteotomy. Common variations in anatomical landmarks were posterior location of sac, large ethmoidal bulla, high internal common opening, and thick maxillary bone. Surgical time taken in the last 27 eyes was significantly lesser compared to the surgical duration taken in the initial 27 cases (P < 0.05). Anatomical and functional success rate was 94% (48/51) at 6 months follow-up period. Conclusions: Endoscopic En-DCR has a good success rate when performed by oculoplastic surgery trainees. Nasal anatomical variations, instrument handling, and adaptation to monocular view of endoscope are few of the challenges for beginners. Structured skill transfer can help trainees to learn and perform En-DCR with acceptable success rates.

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Purpose: The purpose was to evaluate the results of modified sleeve in phacoemulsification of cataract in completely vitrectomised eyes, Materials and Methods: Twenty-five previously completely vitrectomized eyes of 23 patients having visually significant cataract were included. After through evaluation they underwent phaco-emulsification by phaco chop with a modified sleeve via temporal clear corneal incision. The modified sleeve was made by creating a small round port of approximate 1 × 1 mm size at the proximate end of the sleeve in line with the already existing ports. This port faced the posterior capsule while performing phacoemulsification. Patients were observed for any intraoperative complications. Result: The most common indication for pars plana vitrectomy in our study group was vitreous hemorrhage due to diabetic retinopathy [13 out of 25 eyes (52%)]. Intraoperative findings included miosis [seen in 3 (12%) eyes] and posterior capsular plaque [seen in 2(8%) eyes]. No other significant intraoperative complications (posterior capsular tear, dropped nucleus) were observed. Average effective phaco time was 33 sec. (±15.11). Conclusion: Though cataract surgery in postvitrectomized eyes is a challenging situation, modified sleeve prevents anterior chamber fluctuation and avoids complications arising out of it, making the surgery safe.

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The circumpapillary retinal nerve fiber layer (RNFL) thickness was assessed by spectral domain optical coherent tomography (SD-OCT) before and after surgical reduction of intraocular pressure in an eye with primary infantile glaucoma. In this case, a postoperative reduction of cupping and a subsequent increase in neuroretinal rim area is associated with a paradoxical thinning of the RNFL. This is the first-known characterization of cupping reversal using SD-OCT.

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Linear nevus sebaceous syndrome (LNSS) is characterized by nevus sebaceous, mental retardation, seizures, and ocular abnormalities such as complex limbal choistoma. A young male with history of mass in right eye and blackish discoloration of skin over right and left side of forehead since birth presented with foreign body sensation and diminished vision in right eye. Ocular examination showed mass over epibulbar region with chorioretinal coloboma and posterior staphyloma in right eye and megalocornea in left eye. Histopathology report revealed complex limbal choristoma with compound melanocytic nevus. The case was managed by surgical excision of the limbal mass and filling the gap with scleral graft.

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Purpose: The purpose of this study was to evaluate the clinical results after deep anterior lamellar keratoplasty (DALK) assisted by the femtosecond laser with big-bubble technique for keratoconus. Methods: A case series of 22 eyes in 19 patients with keratoconus was enrolled in the study. The 500-kHz VisuMax femtosecond laser (Carl Zeiss Meditec AG, Jena, Germany) was used to create a vertical side cut on donor and recipient corneas. Intraoperative and postoperative complications, uncorrected visual acuity, best-corrected visual acuity, corneal curvature, and central corneal thickness were evaluated in all patients. Results: Big-bubble and naked Descemet's membrane (DM) were successfully achieved in twenty eyes (90.9%). Intraoperative macroperforation of DM occurred in two cases and converted to full-thickness keratoplasty. The mean follow-up time was 18.8 ± 5.3 months. The best-corrected visual acuity was increased from 0.3 to 1.0, mean corneal curvature was 43.0 ± 2.3D, and mean central corneal thickness was 508.9 ± 60.1 μm (range, from 430 to 600 μm) postoperatively. Conclusion: Our results indicate that femtosecond laser-assisted DALK with big-bubble technique is an accurate, safe, and effective method to treat the patients with keratoconus.

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We report an interesting case of infectious scleritis from coinfection of Pseudomonas aeruginosa and Bipolaris with no corneal infiltrate. A healthy 60-year-old man with a history of infectious scleritis following pterygium excision presented with purulent material growing P. aeruginosa and 1+ colonies of Bipolaris species of fungus. Broad spectrum treatment was initiated with hourly topical moxifloxacin, fortified tobramycin, and natamycin along with a subconjunctival injection of voriconazole and topical cyclosporine, with PO ketoconazole. After 10 weeks of aggressive empiric treatment, the patient's symptoms had resolved, and his vision returned to baseline although a scleral patch graft was utilized to stabilize scleral thinning.

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Primary extraskeletal osteosarcoma (EOS) is an extremely rare malignancy. In this report, the clinical course of a 32-year-old man presenting with proptoses is described. Medical history included Hirschsprung disease (HD), horseshoe kidney, azoospermia, and vertebral anomalies. Imaging of the orbit showed an oval, well-defined heterogeneous mass adjacent to the lateral wall of the orbit. The patient underwent a lateral orbitotomy and complete excision of the mass. The mass was not attached to the bone. Histopathologic and immunohistochemical examination confirmed the diagnosis of an EOS. The patient received chemotherapy and radiotherapy and is free of the disease 3 years after the diagnosis. Genetic screening showed no mutations for both the RET proto-oncogene for HD and the p53 tumor suppressor gene for osteosarcoma.

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Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Its combination with ocular manifestations may be genetic, specifically in case of claudin-19 (CLDN-19) gene mutations. The combination of FHHNC and ocular manifestations is not always present in these patients. Optical coherence tomography (OCT) helps us diagnose this condition by allowing us to evaluate and confirm the absence of retina layers without histological examination. Although genetic testing is necessary to diagnose mutational alterations of the CLDN-19 gene, in our case, it was not necessary to diagnose the FHHNC patient with macular coloboma, since the diagnosis of ocular damage had been already accurately established by the OCT.

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Objective: There is a substantial debate in the ophthalmology community about whether anti-vascular endothelial growth factor (VEGF) injections result in a long-term increase in intraocular pressure (IOP). Design: We performed a retrospective study to investigate how the number and timing of intravitreal injections in patients with age-related macular degeneration (AMD) and diabetic macular edema (DME) affect IOP over time. Methods: We collected long-term IOP data on patients receiving anti-VEGF injections at our institution. Patients over the age of 40 years who received injections for AMD (n = 76) or DME (n = 55) were included. Patients were grouped according to indication as well as number of injections received (1–3, 4–6, 7–9, or 10+ injections). IOP measurements were then placed into time points (0–6, 6–12, 12–18, 18–24, or 24+ months) and compared to the preinjection average IOP. Results: For patients with DME, average preinjection IOP was 15.7 mmHg. At 24+ months after injection, the average IOP was 15.2 (P = 0.68) for patients receiving 1–3 injections, 16.8 (P = 0.23) for 4–6 injections, and 14.4 (P = 0.66) for 7–9 injections. For patients with AMD, average initial IOP was 15.6 mmHg. At 24+ months after injection, the average IOP was 12.6 (P = 0.97) for 1–3 injections, 14.9 (P = 0.96) for 4–6 injections, 14.8 (P = 0.84) for 7–9 injections, and 15.7 (P = 0.56) for 10+ injections. Conclusions: There was no increase in IOP over time for AMD or DME patients, regardless of how many injections they received. For patients receiving unilateral injections, there was no increase in IOP in the injected eye when compared to the noninjected eye.

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Reiter's syndrome is commonly associated with conjunctivitis and rarely with uveitis. Bilateral disciform keratitis at presentation is a very rare manifestation in Reiter's syndrome. A 13-year-old boy developed bilateral disciform keratitis with oligoarthritis following an episode of conjunctivitis. In addition he had suspected bacterial keratitis with hypopyon in the left eye as a possible secondary infection of an epithelial defect that is a feature of Reiter's keratitis. Empirical treatment with intensive topical antibiotics as a therapeutic trial completely resolved the hypopyon and the disciform keratitis settled with topical steroid treatment. The patient achieved a best corrected vision of 20/20 in both the eyes 6 weeks after the treatment. Bilateral disciform keratitis can occur as a complication of Reiter's syndrome. Also the possibility of secondary infection of the epithelial defect needs to be borne in mind.

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Active serpiginous choroiditis (SC) is a vision-threatening condition which requires intensive treatment using corticosteroids and/or immunosuppressives, especially if the lesions are involving or encroaching on the macula. Use of oral and intravenous high-dose steroids are contraindicated in uncontrolled diabetics. Intravitreal steroid delivers a localized dose in such situations. This case report highlights the efficacy of reduced dose of intravitreal triamcinolone acetonide (2 mg) in the treatment of active SC.

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Purpose: To test whether there is an association between the growth in the number of ophthalmic journals in the past years and their mean and maximum impact factor (IF) as a common sign of scientific proliferation. Methods: Using data from the 2013 Journal Citation Report database a study of the major clinical medical fields was conducted to assess the correlation between the number of journals and maximum IF in a given field in the year 2013. In the field of ophthalmology, we examined the correlation between year, number of journals, mean IF and maximum IF in the field of ophthalmology throughout the years 2000–2013. Results: In the major medical fields, a positive correlation was found between the number of journals and the maximum IF (quadratic R² = 0.71, P< 0.001). When studying the field of ophthalmology a positive correlation between the number of journals and mean IF (R² = 0.84, P< 0.001) and between number of journals and maximum IF (R² = 0.71, P< 0.001) was detected. Conclusions: Our findings suggest that the variation in the IF can be explained by the number of journals in the field of ophthalmology. In the future, the formation of additional ophthalmology journals is likely to further increase the IFs of existing journals.

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A 5-year-old boy presented with a large 5 cm × 5 cm cyst covering the left eye completely since birth. The cyst was excised in toto and was sent for histopathological examination. During the surgery, the inferior oblique (IO) muscle was seen originating from medial orbital wall, 10–12 mm behind the medial orbital margin, just posterior to the lacrimal bone and moving laterally, downward, and posteriorly from its origin making a more acute angle - around 20° to its site of origin. The insertion of the IO to sclera was at its normal site. The abnormal origin of IO was confirmed later by magnetic resonance imaging. The ocular movements of the left eye were tested 2 weeks after the surgery and were found to be normal in all directions. However, the child was hypertrophic and amblyopic. The histopathological findings showed the orbital cyst to contain dermal elements, respiratory, and intestinal epithelium.

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Susac syndrome (SS) is a rare retinal-cochlear-cerebral disease with an unclear etiology. A 35-year-old man presented with sudden painless vision loss in the right eye and 2 months later in the left eye with hemiparesis, behavioral changes, and hearing loss. Ophthalmic examinations revealed multiple branch retinal artery occlusions (BRAOs) in both eyes. Brain magnetic resonance imaging showed inflammatory changes with multiple “punched-out” lesions in the corpus callosum which confirmed the diagnosis of SS. Despite intravenous and oral corticosteroid therapy, the disease progressed with the development of new BRAOs, low vision in both eyes, and disability. Prompt diagnosis and early treatment may save the vision and even patient's life.

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