Slit-lamp Biomicroscopy Research Articles

Epiretinal membrane formation after rhegmatogenous retinal detachment repair (RRD): A single center study.

Objective: To determine the frequency of patients developing ERM (epiretinal membrane) after surgical procedure for RRD. Study Design: Retrospective study. Setting: Department of Ophthalmology, Madina Teaching Hospital Faisalabad. Period: November 2021 to October 2022. Methods: Involving patients of primary RRD; 160 patients enrolled before the operation, each patient had both of their eyes assessed, and then again after one month, and then three months after the procedure. These assessments comprised a comprehensive ophthalmological evaluation, which consisted of slit-lamp biomicroscopy, OCT scans. On the basis of ERM formation, the participants were divided into two distinct groups. Age, gender, length of retinal detachment in days, existence of PVD, type of surgery done for RRD, and presence or absence of postoperative ERM were some of the demographic and clinical data that were obtained. Results: A total of 160 patients' data was evaluated, and 47 (29.4%) of them had ERM formation following RRD repair. No factor such as age, gender, side of the eye involved and type of surgery has any influence on the outcome of ERM as the p value <0.05. Conclusion: According to the results it can be concluded that ERM is a prevalent complication after SB and PPV surgery dome for RRD but no associations were seen with age, gender, side of the eye involved and type of surgery has any influence on the outcome of ERM.

Comparison of photodynamic therapy with two different parameters combined with subconjunctival injection of bevacizumab for corneal neovascularization

BackgroundTo the best of our knowledge, no studies have been performed to determine the optimal parameters of photodynamic therapy (PDT) combined with subconjunctival injection of bevacizumab for corneal neovascularization. This study aimed to compare the effect of photodynamic therapy with two different sets of parameters combined with subconjunctival injection of bevacizumab for corneal neovascularization. MethodsPatients with stable corneal neovascularization (CNV) unresponsive to conventional treatment (topical steroid) were included in this study. Patients were divided into two groups, receiving PDT with two different sets of parameters (group 1 receiving fluence of 50 J/cm2 at 15 min after intravenous injection of verteporfin with, group 2 receiving fluence of 150 J/cm2 at 60 min after intravenous injection of verteporfin with). Subconjunctival injection of bevacizumab was performed immediately after PDT. All patients were followed for 6 months. Best-corrected visual acuity and intraocular pressure were evaluated, and slit-lamp biomicroscopy as well as digital photography were performed. Average diameter and cumulative length of corneal neovascular were measured to evaluate the corneal neovascularization. ResultsSeventeen patients (20 eyes) were included in this study. At the last visit, the vision was improved in 12 eyes (60 %), steady in 4 eyes (20 %) and worsen in 4 eyes (20 %). The intraocular pressure (IOP) of all patients remained in normal range. A significant decrease in corneal neovascularization was showed in all the eyes after treatment. At 6 months after the combined treatment, the average diameter and cumulative length of vessels significantly decreased to 0.041 ± 0.023 mm (P < 0.05) and 18.78 ± 17.73 mm (P < 0.05), respectively, compared with the pretreatment data (0.062 ± 0.015 mm, 31.48 ± 18.21 mm). The reduction was more remarkable in group 2 compared to group 1.In group 1, the average diameter was 0.062 ± 0.013mm before and 0.056 ± 0.017mm after, the cumulative length of vessels was 38.66 ± 22.55mm before and 31.21 ± 17.30 after. In group 2, the date were 0.061 ± 0.016mm before and 0.029 ± 0.020mm after, 25.60 ± 8.95 mm before and 8.61 ± 8.26 mm. The reported complications included epithelial defect in four eyes, small white filaments in two eyes and corneal epithelial erosion in two eyes. ConclusionThe PDT combined with subconjunctival injection of bevacizumab was effective for the chronic corneal neovascularization. A more promising treatment outcome was observed when PDT was performed at 60 min after intravenous injection of verteporfin with fluence of 150 J/cm2. No serious complications or systemic events were observed throughout the follow-up period.

Atypical Form of Unilateral Optic Neuropathy Caused by Ocular Toxocariasis

Purpose: To report an atypical form of ocular toxocariasis presenting as unilateral optic neuropathy.Case summary: A 75-year-old man was referred to our clinic owing to the recently developed visual difficulty in his right eye. The visual acuity of the right eye was 0.4, a relative afferent pupillary defect was positive in the right eye. On slit lamp biomicroscopy, anterior chamber inflammation and vitreous cells and haze were detected in the right eye. On fundus examination, optic disc swelling and focal retinitis around the optic disc were found in the right eye. Fluorescein angiography revealed focal retinitis along with leakage near the optic disc in the right eye. Serology was positive for Toxocara IgG. Under the suspicion of an atypical form of ocular toxocariasis, the patient was treated with local and oral steroids and albendazole. Subsequently, optic disc swelling and vitreous inflammation improved, but the final visual acuity was 0.125 with pale optic disc and central visual field defects in the right eye.Conclusions: In patients suspected of optic neuritis, when the anterior chamber and vitreous inflammation and uveitis are accompanied, ocular toxocariasis can present atypically and requires attention because may have a bad prognosis owing to irreversible optic nerve damage.

Topical Dexamethasone Counters Intravitreal Ivermectin-Induced Ocular Toxicity in a Rabbit Model

Purpose Systemic use of Ivermectin has been reported to incite blindness in humans and veterinary patients. This study was designed to investigate the systemic and intravitreal effect of Ivermectin on ocular and retinal health and its attenuation with topical Dexamethasone. Methods Systemic injection of Ivermectin@ 1.6 mg/kg S/C was administered, thrice a week for three weeks to New Zealand White rabbits (N = 4) with and without topical drops of Verapamil (N = 4). Pre and post-treatment ocular examination was conducted. At the end of three weeks the eyes were collected for histopathology. 0.2 ml of Ivermectin solution (1.6 mg/ml) was injected intravitreally in one eye of the rabbit (N = 8), Half the rabbits received 0.1% dexamethasone drops thrice daily for 7 days, while the controls received PBS. Pre and post-treatment, detailed examination was conducted, which included the Schirmer Tear test, Fluorescein staining, Intraocular pressure, slit lamp biomicroscopy and fundus photography. The retina was harvested for histopathological and tunnel assay. Results Systemic therapy with Ivermectin, with and without Verapamil did not incite any adverse response in the eye. Intravitreal Ivermectin evoked severe uveitis 4/4, cataract 3/4, corneal erosion 3/4 eyes and severe inflammatory response. Eyes that received dexamethasone were rescued from the adverse changes as demonstrated clinically, by histopathology and prevention of apoptosis. Conclusions Intravitreal Ivermectin incites severe inflammatory response. Topical dexamethasone counters the ocular toxicity incited by Ivermectin.

Morphological Characteristics of Granular Corneal Dystrophy Type 1 in the Korean Population

Purpose: Granular corneal dystrophy type 1 (GCD1) is a genetic disorder characterized by grayish-white granular deposits in the corneal stroma, typically manifesting before age 10. The specific characteristics of GCD1 in the Korea population remain insufficiently described. This study investigated the morphological features of GCD1 corneas with confirmed genetic mutations in this population.Methods: Medical records of GCD1 patients with the R555W mutation confirmed through transforming growth factor β induced (TGFBI) gene testing on oral epithelium or blood samples from 2005-2022, were analyzed. Corneal photographs obtained using a slit lamp biomicroscope were also examined.Results: The study group included 11 males and 19 females with an average age of 35.7 years, ranging from 3-70 years. All participants were heterozygotes. In 28 individuals (56 eyes, representing 93.3% of the total), there were signs of corneal deposit detachments, known as “drop-off”, observed in patients aged 6 years and above. Surface deposits reemerged at the peripheral margin of previous locations and expanded toward the center. The number and shape of opacities significantly changed with age, showing cycles of deposition and shedding. There were variations in the severity of opacities within the same family, particularly with advancing age, and distinct opacities extending into deeper stromal layers.Conclusions: This study outlines the morphological characteristics of corneas in Korean GCD1 patients, based on corneal photograph analysis. These findings provide a basis for future comparative studies with GCD2 and may aid rapid clinical diagnosis based on clinical findings, prior to genetic testing confirmation.

Prevalence of visual impairment in patients sustaining proximal hip fracture after a simple fall

According to epidemiological studies, the 30% of aged 75 years and older is having impaired vision and most of the cases these patients are not in contact of the hospital care staff and community eye services. The visual assessment of older people is essential and helps to minimize the issues related to fall that led to critical problem. The proper vision is required for regain independence and improve the patient’s overall wellbeing. This kind of situation is leading the individual to unintentional injury which is higher among the visually impaired people compared to fully sighted population. Moreover, there are two major reasons for visual impairment that are more susceptible.The study aims to analyze the prevalence of visual impairment in patients sustaining proximal hip fracture after a simple fall at SCB Medical College and Hospital, Cuttack, Odisha.The current study has been conducted at SCB Medical College and Hospital, Cuttack, Odisha. All inpatients of the orthopaedic rehabilitation wards were recuperating from the surgical repair of a fractured neck of femur aged 75 years and above. and all the visual impairment assessed at Ophthalmology OPD. Moreover, the investigator has also invited the patients who sustained their fracture after a simple slip, trip and fall. Apart from this, the mental test of these participants was also done to analyze the ability. In this test the score of seven and above was considered for allowing the patients to take part in the study. There was a full ocular examination of anterior and posterior segment performed by the ophthalmologist using the slit-lamp bio microscope and indirect ophthalmoscope.Visual impairment of criteria 1 sensitivity was 93% and specificity was 91%. Moreover, the likelihood ratio of positive results was 11 and negative result was 0.05. For the criteria 2 the sensitivity was 97% and specificity was 86%. Moreover, the likelihood of positive results was 6 and negative result was 0.02. Apart from this detection of potentially remedial visual impairment sensitivity was 69% and specificity was 91%. The likelihood ratio of positive result was 8 and negative result was 0.2.The vision test and proper ocular examination were underestimated the extent of vision impairment in older adults. As per the outcome of the study, the visual impairment is common in elderly patients with a history of falls. Moreover, the study has suggested that to measure the visual acuity of all elderly patients recuperating from a proximal hip fracture after a simple fall.

Failed Treatment of Multidrug-resistant Acinetobacter Baumannii Keratitis Mistaken for a Mixed Infection

Purpose: To report treatment failure of multidrug-resistant &lt;i&gt;Acinetobacter baumannii&lt;/i&gt; keratitis in a patient wearing contact lenses for a long time.Case summary: A 48-year-old man using daytime soft lenses for 20 years was transferred due to decreased visual acuity and eye pain. Slit-lamp biomicroscopy showed a large corneal epithelial defect and stromal infiltration, but no hypopyon. Treatment was initiated with moxifloxacin, polyhexamethylene biguanide eye drops, and oral antibiotics. Corneal infiltration worsened, corneal scrapings and culture were performed. Gram staining showed Gram-positive bacteria, potassium hydroxide (KOH) hyphae-positive, and culture yielded Bacillus. He was hospitalized and vancomycin, voriconazole, and amphotericin B eye drops were administered. Oral antifungal agents were also prescribed. The corneal epithelial defect was restored from temporal side for a while, and then deteriorated with an endothelial plaque. Therefore, voriconazole and amphotericin B were injected intracamerally. All four repeated culture tests were negative. Despite total conjunctival flap, the patient complained of severe pain and eventually underwent evisceration. In the culture of intraocular contents, &lt;i&gt;Acinetobacter baumannii&lt;/i&gt;, which is resistant to all drugs except minocycline, was detected.Conclusions: In patients wearing contact lens for a long time, not only mixed infection with acanthamoeba and fungi, but also gram-negative bacteria should be considered first, and multidrug-resistant &lt;i&gt;Acinetobacter baumannii&lt;/i&gt; should also be considered.

A method for teaching depth of corneal lesions using a portable slit lamp (biomicroscope).

A novel, simple, and inexpensive model for teaching depth of lesions within the cornea using slit lamp biomicroscopy to veterinary students, ophthalmology residents, and general clinicians with access to a slit lamp biomicroscope is described. Using common laboratory items, this method can be created in any clinic and can be used to teach and quiz students through independent study with objective self-testing achieved.

Five-year changes in macular thickness in the elderly population: A cohort study.

The aim of this study is to determine the 5-year changes in macular thickness and related factors. Data were from the second (2014) and third (2019) phases of the Shahroud Eye Cohort Study. Examinations included measurement of uncorrected and best-corrected visual acuity, non-cycloplegic autorefraction, slit-lamp biomicroscopy, and funduscopy. Participants underwent Cirrus HD-OCT 4000 (Carl Zeiss Meditec, Dublin, CA). The 5-year changes (95% confidence interval) of central and overall macular thicknesses were - 3.48 ± 8.16 μ (-3.92, -3.03) and - 0.79 ± 4.06 μ (-1.03, -0.54), respectively. The median and IQR of 5-year changes in the central subfield thickness were -3 and 10, although they were 0 and 5 in the overall macular thickness, respectively. Multiple regression model showed the central macular thickness (CMT) decreased with a U-shape pattern with increasing age. The 5-year changes in CMT were significantly lower in females compared to males β = -1.55; (-2.78, -0.32) and in smokers compared to non-smokers β = -1.92; (-3.55, -0.28). Moreover, higher body mass index β = -0.12; (-0.22, -0.02) and CMT at baseline β = -0.08; (-0.10, -0.06) were significantly associated with lower CMT changes. The average 5-year changes in overall macular thickness showed a non-linear decrease with age and was significantly higher in females β = 0.93; (0.4, 1.43). These changes were directly related to the anterior chamber depth β = 0.87; (0.10, 1.64) in the baseline. The macular thickness decreased slightly after 5 years; however, this change is not clinically significant. Demographic factors such as age and sex and refractive errors were significantly related to macular thickness changes.

In vivo evaluation of a nanotechnology-based microshunt for filtering glaucoma surgery

To carry out the preclinical and histological evaluation of a novel nanotechnology-based microshunt for drainage glaucoma surgery. Twelve New Zealand White rabbits were implanted with a novel microshunt and followed up for 6 weeks. The new material composite consists of the silicone polydimethylsiloxane (PDMS) and tetrapodal Zinc Oxide (ZnO-T) nano-/microparticles. The microshunts were inserted ab externo to connect the subconjunctival space with the anterior chamber. Animals were euthanized after 2 and 6 weeks for histological evaluation. Ocular health and implant position were assessed at postoperative days 1, 3, 7 and twice a week thereafter by slit lamp biomicroscopy. Intraocular pressure (IOP) was measured using rebound tonometry. A good tolerability was observed in both short- and medium-term follow-up. Intraocular pressure was reduced following surgery but increased to preoperative levels after 2 weeks. No clinical or histological signs of inflammatory or toxic reactions were seen; the fibrotic encapsulation was barely noticeable after two weeks and very mild after six weeks. The new material composite PDMS/ZnO-T is well tolerated and the associated foreign body fibrotic reaction quite mild. The new microshunt reduces the IOP for 2 weeks. Further research will elucidate a tube-like shape to improve and prolong outflow performance and longer follow-up to exclude medium-term adverse effects.

Comparison of the Biometric Characteristics After Long-term Implantation of Iris-fixated Phakic Intraocular Lens in Explanted and Nonexplanted Groups of Eyes

PurposeTo evaluate and compare the biometric characteristics of the anterior chamber of a group of patients with significant endothelial cell loss (ECL) that required phakic IOL (pIOL) explantation and a group of patients who did not fulfill the explantation criteria related to corneal decompensation. DesignRetrospective consecutive interventional case series MethodsThe study included all consecutive patients implanted with pIOL at Oftalmosalud Instituto de Ojos, Lima, Peru, between 2001 and 2012. The explanted group (E-group) consisted of eyes in which the pIOLs were explanted due to ECL and the non-explanted group (NE-group) consisted of eyes randomly selected in which the pIOL was not explanted with a minimum follow-up time of eight years. Slit-lamp biomicroscopy, visual acuity, refraction, endothelial cells count, and anterior segment OCT were assessed at the preoperative evaluation for both groups and before explantation in the E-group and eight years post implantation in the NE-group. Results265 eyes were implanted with pIOL. The annual percentage of ECL was 1.47% and 5.55% in the NE-group and the E-group, respectively (p < .001). The mean minimum endothelial lens distance (min-ELD) was 1.44 ± 0.22 mm and 1.05 ± 0.23 mm in the NE-group and the E-group, respectively (p < 0.001). The mean time for explantation was 12.58 ± 3.79 years for the NE-group. Annual ECL could accurately discriminate between NE-group and E-group, a cutoff point of 3.5 (%/year) or 86.5 (cells/years) had a 100% sensitivity and specificity. A cutoff of 1.21 mm in the min-ELD, has a 91% sensitivity and 79% specificity to discriminate between E-group and NE-group. ConclusionpIOL explantation due to ECL occurs in eyes with a significantly postoperative lower min-ELD. Annual ECL and min-ELC can effectively discriminate between explanted and non-explanted groups.

Peripheral Ulcerative Keratitis: A Serious Corneal Inflammation

Abstract&#x0D; Introduction : Peripheral ulcerative keratitis (PUK) is a rare, but severe sight-threatening inflammatory condition that affects the cornea. PUK is characterized by peripheral corneal ulceration, stromal thinning, and neovascularization that can lead to corneal perforation and vision loss. Although PUK can occur in individuals without underlying systemic disease, it is most commonly associated with autoimmune disorders.&#x0D; Case Illustration : A 53-year-old woman presented to the ophthalmology clinic with complaints of redness, foreign body sensation, and blurred vision in her both eye for the past three days. On examination, slit-lamp biomicroscopy revealed a peripheral corneal ulcer. She had a history of rheumatoid arthritis for the past 2 months and was being treated with methotrexate and metylprednisolone. Laboratory investigations revealed elevated Anti-CCP IgG, which confirmed the presence of rheumatoid arthritis.&#x0D; Discussion : PUK is most commonly associated with autoimmune disorders, particularly rheumatoid arthritis, but may also occur in individuals with infectious, degenerative or traumatic corneal injuries. Immune- mediated inflammation, complement activation, and tissue destruction are thought to be involved in the pathogenesis of PUK. The diagnosis of PUK requires a thorough ophthalmic examination, including slit-lamp biomicroscopy, and laboratory investigations for underlying autoimmune disorders.&#x0D; Conclusion : PUK is a rare but serious ocular disease that requires prompt diagnosis and management to prevent severe complications such as corneal perforation and vision loss. Although PUK can occur in individuals without underlying systemic disease, it is most commonly associated with autoimmune disorders, particularly rheumatoid arthritis.

A Rare Case of Congenital Corneal Keloids

Introduction : A corneal keloid is a uncommon ophthalmic condition that manifest as proliferation of fibrous tissue in the cornea and presents as an enlarging, white, elevated, well circumscribed corneal lesion. It is a relatively uncommon lesion that typically appears after surgery, injury, or corneal perforation. Pathological examination of the resected specimen leading to a diagnosis of corneal keloid.&#x0D; Case Illustration : A 6-year-old girl came with chief complaint was blurry vision in both eyes accompanied with a white opacity in her left eye that was gradually growing. The patient has been diagnosed with congenital glaucoma ever since birth. Nobody of her parents acknowledged having a history of inflammatory, infection, or ocular damage. At first glance, her visual acuity appeared to be light reflex in both eyes. Slit lamp biomicroscopy revealed a pearly white, enhanced opacity with sharp edges and smooth surface in the left eye (figure 1). New vessels were present in the lesion adjacent to the limbus. The patient is undergoing keloids excision, multilayer amnion membrane transplant and fine needle diathermy (figure2).&#x0D; Discussion : Corneal keloid can present at any age, present as a glistening white enlarging mass on the cornea and well demarcated from the adjacent normal tissue. Histopathologic examination demonstrates a thickened corneal epithelium overlying stroma and hyalinized collagen (figure 3).&#x0D; Conclusion : A corneal keloid should be suspected in cases of enlarging white glistening avascular corneal scars. Biopsy and histopathology confirmed the diagnosis.

Sickle Eye Project: a cross-sectional, non-interventional study of the prevalence of visual impairment due to sickle cell retinopathy and maculopathy in the UK

IntroductionSickle cell disease (SCD) is one of the most common genetic disorders in the UK, with over 15 000 people affected. Proliferative sickle cell retinopathy (SCR) is a well-described complication...

The association between visual impairment and mental disorders

To determine the association between visual impairment (VI) and some mental disorders using the general health questionnaire (GHQ) in individuals aged 60 years and above in Tehran, Iran. The present population-based cross-sectional study was conducted on people aged 60 and older in Tehran, Iran using multi-stage cluster sampling. After selecting the samples, examinations including visual acuity measurement, refraction, and slit-lamp biomicroscopy were performed for all participants. The GHQ was used to examine mental disorders. Simple and multiple linear regressions were used to investigate the association between VI and mental disorders. Of the 3740 invitees, 3310 participated in the study (response rate: 88.50%). After applying the exclusion criteria, 2789 individuals were analyzed for this report. Mean score of physical, anxiety, social and depression disorders in people with and without VI was 3.74 ± 2.03, 5.81 ± 2.79, 7.56 ± 1.91, 1.32 ± 1.90, and 3.14 ± 1.76, 4.93 ± 2.71, 8.09 ± 1.99, 0.91 ± 1.38, respectively. The total score of GHQ in participants with and without VI was 18.43 ± 4.75 and 17.07 ± 4.19, respectively. The association between GHQ subscales and total GHQ score with VI by multiple linear regression showed that VI had a statistically significant direct association with physical symptoms (β = 0.37; 95% CI 0.12 to 0.62) and anxiety (β = 0.48; 95% CI 0.16 to 0.81). Nevertheless, depression had a borderline association with VI (β = 0.21; 95% CI − 0.03 to 0.45) and social dysfunction did not have a statistically significant association with VI in the final linear regression model and did not remain in the model. Total GHQ score had a statistically significant association with VI (β = 1.02; 95% CI 0.39 to 1.64) in the presence of covariates. Regarding the association between VI and GHQ components, the physical symptoms had the highest R2 (R2 = 0.159). Patients with VI suffer more from anxiety, depression, and physical symptoms regardless of age, sex, education, and other effective variables. The coincidence of aging with VI and the association of VI with mental disorders emphasizes the importance of a broader view of the elderly and the aging process.

Effector T Cells Promote Fibrosis in Corneal Transplantation Failure.

To evaluate whether fibrosis contributes to corneal transplant failure and to determine whether effector CD4+ T cells, the key immune cells in corneal transplant rejection, play a direct role in fibrosis formation. Allogeneic corneal transplantation was performed in mice. Graft opacity was evaluated by slit-lamp biomicroscopy, and fibrosis was assessed by in vivo confocal microscopy. Expression of alpha-smooth muscle actin (α-SMA) in both accepted and failed grafts was assessed by real-time PCR and immunohistochemistry. Frequencies of graft-infiltrating CD4+ T cells, neutrophils, and macrophages were assessed using flow cytometry. In vitro, MK/T-1 corneal fibroblasts were co-cultured with activated CD4+CD25- effector T cells isolated from corneal transplant recipient mice, and α-SMA expression was quantified by real-time PCR and ELISA. Neutralizing antibody was used to evaluate the role of interferon gamma (IFN-γ) in promoting α-SMA expression. The majority of failed grafts demonstrated clinical signs of fibrosis which became most evident at week 6 after corneal transplantation. Failed grafts showed higher expression of α-SMA as compared to accepted grafts. Flow cytometry analysis showed a significant increase in CD4+ T cells in failed grafts compared to accepted grafts. Co-culture of activated CD4+CD25- effector T cells with corneal fibroblasts led to an increase in α-SMA expression by fibroblasts. Inhibition of IFN-γ in culture significantly suppressed this increase in α-SMA expression as compared to immunoglobulin G control. Fibrosis contributes to graft opacity in corneal transplant failure and is mediated at least in part by effector CD4+ T cells via IFN-γ.

Steroid induced ocular complications in idiopathic nephrotic syndrome: a cross sectional single center study.

To screen children receiving steroids to identify ocular complications and their prevalence. The cross-sectional study was conducted at the Paediatric Nephrology and Ophthalmology departments of the Sindh Institute of Urology and Transplantation, Karachi, from May to October 2022, and comprised patients who received at least 1500mg cumulative steroid dose for a minimum of 3 months. They were screened for steroidsensitive or steroid-resistant nephrotic syndrome. Ocular examinations, including visual acuity, intraocular pressure, slit-lamp biomicroscopy, lens examination and fundus evaluation, were performed. Data was analysed using SPSS 22. Of the 124 subjects with mean age 8.15±2.03 years (range: 6-12 years), 64(51.6%) were boys. Steroidsensitive nephrotic syndrome was present in 97(78%) cases. The mean cumulative steroid dose was 3999.31±1564.22mg. Overall, 36(29%) children developed ocular complications. Blood pressure, number of relapses and the duration of treatment were significantly associated (p<0.05). Refractive errors were the most frequent side effects/complication seen among children with nephrotic syndrome who received prolonged corticosteroids.

Next Generation Sequencing in presumptive diagnosis of syndromes in childhood retinal dystrophies - case series from India

PurposeChildhood onset retinal dystrophies are heterogeneous group of diseases that include Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa, early onset retinitis pigmentosa (EORP) and Severe Early Childhood Onset Retinal Dystrophy (SECORD) and can present either as an isolated condition or with associated non-ocular features. Genetic testing aids in the differential diagnosis of these conditions, for monitoring and timely management of the systemic manifestations. In this study, we present a case series of childhood onset retinal dystrophies where genetic testing has aided in the diagnosis of syndromic form of inherited retinal degenerations (IRD). MethodsPatients (N = 10) underwent complete ophthalmic examination including slit lamp biomicroscopy and dilated indirect ophthalmoscopy. ERG, fundus photograph and Optical Coherence Tomography was done for all patients if the child cooperated for the same. This was followed by targeted re-sequencing of IRD gene panel, on the Illumina Hiseq 2500 platform. Clinical follow up for other associated systemic features was advised based on the genetic results, for patients who were asymptomatic at the time of genetic diagnosis. The patients were monitored for the same periodically. ResultsMutations were identified in IQCB1, ALMS1, SLC19A2, CNNM4, and VPS13B genes suggested associated syndromes. In all these cases, the ocular phenotype was the first presentation in early infancy and genetic testing for IRD genes suggested syndromic disease. The patients could hence be followed up appropriately for other manifestations. ConclusionsMolecular diagnosis has helped in identifying the associated syndrome in these patients with childhood retinal dystrophies who were asymptomatic for some of the non-ocular features at the time of genetic testing. The patients can be benefitted by frequent clinical surveillance with a scope for effective and timely management of the systemic features wherever applicable.

Does Systemic Hematological Therapy Influence the Course of Paraproteinemic Keratopathy?

The purpose of this article is to evaluate the course of paraproteinemic keratopathy (PPK) in patients undergoing systemic therapy for the underlying hematological disease. Baseline and follow-up examinations included hematological work-up, best-corrected visual acuity, slit-lamp biomicroscopy, and in vivo confocal laser scanning microscopy (IVCM). We included 22 patients with bilateral PPK (aged 68 ± 10.4 years, 11 males). Ten patients with multiple myeloma (MM) underwent on-label systemic therapy. During follow-up, we observed a regression of corneal opacities in three patients under slit-lamp examination and under IVCM, while PPK remained unchanged in seven patients. In three patients with monoclonal gammopathy of ocular significance (MGOS), systemic therapy was initiated off-label to reduce the serum paraprotein load before penetrating keratoplasty (PKP). These patients showed no signs of PPK recurrence for up to 24 months after PKP. In one patient without systemic therapy, a recurrence in corneal grafts occurred within 12 months of PKP. In eight patients without systemic therapy, PPK remained stable. In conclusion, systemic therapy for MM patients reduced corneal opacity in 30% of treated patients. Furthermore, systemic therapy performed before PKP in patients without conventional systemic therapy indication (MGOS) likely postpones PPK recurrence in the corneal graft.

Adult-onset neuronal intranuclear inclusion disease related retinal degeneration: a Chinese case series.

To evaluate adult-onset neuronal intranuclear inclusion disease (NIID)-related retinopathy with guanine-guanine-cytosine repeat expansions in NOTCH2NLC. Neuro-ophthalmic evaluations, including best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure (IOP), ultrasound biomicroscopy, pupillometry, fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), Humphrey visual field, full-field electroretinography (ERG), and multifocal ERG (mf-ERG) were performed in patients with gene-proven NIID. Nine patients (18 eyes) were evaluated, with a median age of 62 years (55-68) and only one man was included in our study. Six patients presented with decreased visual acuity or night blindness, whereas the other three were asymptomatic. The visual acuity was measured from 20/200 to 20/20. Miosis was present in eight patients, four of whom had ciliary process hypertrophy and pronation, and three of whom had shallow anterior chambers. Fundus photography, FAF, and OCT showed consistent structural abnormalities mainly started from peripapillary areas and localized in the outer layer of photoreceptors and inner ganglion cell layer. ERG and mf-ERG also revealed retinal dysfunction in the corresponding regions. Patients with NIID showed both structural and functional retinopathies which were unique and different from common cone-rod dystrophy or retinitis pigmentosa. Patients with miosis may have a potential risk of an angle-closure glaucoma attack. Neuro-ophthalmic evaluations is essential for evaluating patients with NIID, even without visual symptom.