Nepalese Journal of Ophthalmology最新文献

{"title":"Clinical Profile and Treatment Outcomes of Acute Retinal Necrosis in a Tertiary Eye Care Centre in Nepal.","authors":"Priyanka Shrestha, Anu Manandhar","doi":"10.3126/nepjoph.v16i1.62167","DOIUrl":"10.3126/nepjoph.v16i1.62167","url":null,"abstract":"<p><strong>Introduction: </strong>Acute retinal necrosis (ARN) is a rapidly progressive, necrotizing herpetic infection, commonly leading to retinal detachment with significant visual morbidity. Most common causative agent belong to the herpesvirus family. It commonly occurs in healthy immunocompetent individuals. Early diagnosis of disease is important in order to start the treatment timely. Systemic antivirals and intravitreal antiviral therapy along with steroids are the main stay of treatment. Our study is a retrospective study of 5 years. We studied the patient demographics, presenting features, treatment outcome and complications of acute retinal necrosis in a tertiary care center in Nepal.</p><p><strong>Objective: </strong>Methodology: A total of 14 eyes of 13 patients were included in the study. This study is a hospital based retrospective study done in the Uveitis and Vitreoretinal department of a tertiary eye care center. Records of all patients diagnosed with Acute Retinal Necrosis between May 2013 to May 2018 were included in this study. Hospital data of these subjects including patient demographics, presenting symptoms, clinical signs, treatment received and treatment outcome were noted and analysed.</p><p><strong>Result: </strong>The mean age of the patients was 45.1 years ± 14.9 years. Sixty-nine were males and 92.3% had bilateral involvement. The mean duration of onset of symptoms was 22.4 days ± 19.5. The most common presenting symptom was decreased vision (78.6%). Among the 13 patients 10 received intravenous acyclovir, 1 received intravenous ganciclovir and 2 patients received oral acyclovir for initial systemic therapy.</p><p><strong>Conclusion: </strong>The most common complication was cataract followed by retinal detachment.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"44-52"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of Oral Azithromycin Versus Doxycycline in Treatment of Meibomian Gland Dysfunction.","authors":"Ashesh Koirala, Samiksha Bhattarai, Sangeeta Shah, Bhuwan Govind Shrestha, Poonam Lavaju","doi":"10.3126/nepjoph.v16i1.46383","DOIUrl":"10.3126/nepjoph.v16i1.46383","url":null,"abstract":"<p><strong>Introduction: </strong>Meibomian gland dysfunction (MGD) is usually treated with conservative methods. Adjunct therapy with oral Doxycycline has played a vital role in its treatment. Recently Azithromycin has also been introduced as a newer agent.</p><p><strong>Objective: </strong>To compare the efficacy, safety and compliance of oral azithromycin with doxycycline over one year period in patients with Meibomian gland dysfunction (MGD).</p><p><strong>Methodology: </strong>A randomised comparative clinical trial was performed among 284 subjects (age >35 years) with MGD. They were randomly divided into two groups A and B. Along with standard conservative management, Group A received oral 9-day azithromycin (500 mg for 3 consecutive days for 3 consecutive weeks) and group B received 14 days doxycycline (200 mg/day). A score comprising seven symptoms and seven signs (primary outcome) was recorded before and at first and second follow up after treatment and further analyzed.</p><p><strong>Result: </strong>The mean symptoms and signs treated by Azithromycin group was lesser as compared to Doxycycline group in the first follow up (p <0.001). However it was statistically insignificant at second follow-up (p=0.043). The group taking azithromycin had a much better overall response (p = 0.006). Gastrointestinal symptoms were the major side effects encountered, the group taking doxycycline experienced significantly more side effects (p ≤0.001).</p><p><strong>Conclusion: </strong>Both antibiotics were effective and safe for treating persistent MGD, but azithromycin was more effective. It required a lower dose, worked faster, and had a shorter treatment duration compared to doxycycline.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"13-19"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Scenario of Pseudomyopia Before and After Vision Therapy: Two Case Reports.","authors":"Santosh Chhetri, Suraj Thapa Magar, Srijana Adhikari, Umesh Belbase","doi":"10.3126/nepjoph.v16i1.59178","DOIUrl":"10.3126/nepjoph.v16i1.59178","url":null,"abstract":"<p><strong>Introduction: </strong>Cycloplegic agents are the most common method used for accommodation relaxation in accommodative spasm cases. However, concerns have arisen about the possibility of rebound effects following the cessation of cycloplegic treatment. This case reports demonstrates a clinical approach for managing accommodative spasm, utilizing the modified Borish's delayed subjective technique and vision therapy. Additionally, also evaluates the patient's clinical status after six months of cessation of therapy. Case Report 1: A 9-year-old female presented with a headache and blurred vision. Her presenting visual acuity was 1/60 in each eye and variable myopia reached up to -6.00 diopters spherical. Cycloplegic refraction showed a low hyperopia and improvement in visual acuity to 6/9 in each eye. This confirmed the diagnosis as accommodative spasm and was referred to a vision therapy clinic for further management. Case Report 2: A 13-year-old female presented with 6/36 visual acuity in both eyes and variable myopic refractive error but cycloplegic refraction revealed low hyperopia and improvement in visual acuity. Then, she was referred to optometry and vision therapy clinic.</p><p><strong>Conclusion: </strong>A modified Borish's delay subjective technique can be applied to instantaneous relief of accommodative spasm. Vision therapy can be useful in restoring normal accommodative and vergence functions. Sustained improvement in visual function and stability of accommodation is obtained after six months of cessation of vision therapy.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"74-79"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcome of Horizontal Strabismus Surgery and Factors Influencing Surgical Success.","authors":"Rojeeta Parajuli, Srijana Adhikari, Manish Poudel, Hening Naluria, Radhika Upreti Oli, Pradeep Banjara","doi":"10.3126/nepjoph.v16i1.50291","DOIUrl":"10.3126/nepjoph.v16i1.50291","url":null,"abstract":"<p><strong>Introduction: </strong>Strabismus is a complex problem of eye alignment, binocularity, and cosmetics that affect vision and quality of life. Strabismus surgery helps to establish binocular fusion, expand the field of binocular vision, eliminate diplopia, correct a compensatory head posture, and improve cosmetic appearance. The outcomes of horizontal strabismus surgery range from 56.3-86.5%. It depends on different factors such as the type of strabismus, accurate measurement of pre-operative deviation, age at which strabismus surgery was performed for the first time, type of strabismus surgery, postoperative alignment, and binocularity. Regrettably, there is insufficient data regarding the prevalence of strabismus and the outcomes of surgical interventions in Nepal. This study addresses the outcome of strabismus surgery and the factors influencing surgical success conducted at a tertiary hospital.</p><p><strong>Objective: </strong>To evaluate the outcome of horizontal strabismus surgery and factors influencing surgical success.</p><p><strong>Methodology: </strong>The medical records of 206 patients who had undergone their first horizontal strabismus surgery at Tilganga Institute of Ophthalmology (TIO) from 2017 to 2020 were reviewed retrospectively. Those who completed a follow-up period for at least 3 months were included. Patients with restrictive, paralytic, and vertical strabismus were excluded from the study. The success of the surgery was defined by achieving an eye deviation of less than 10 prism diopters (PD) six weeks post-surgery. The influencing factors for surgical success (diagnosis, age group, visual acuity, binocular function, and pre-operative angle of deviations) were analyzed.</p><p><strong>Result: </strong>Complete data of 194 patients with follow-up periods of 6 weeks to 3 months were retrieved from the electronic medical record. The majority 116(59.8%) of the patients were between 6-18 years >18-53years 40.2% (78) with male to female ratio of 0.96:1. Majority of the participants had exotropia 124(63.9%) and mean pre-operative angle of deviation was 48.9±14.7PD (Range 10- 90). A good motor alignment (total success rate) was 44.3 %( 86); the success rate for esotropia was 36(41.9%) and for exotropia was 50(58.1%). Both fusion and stereopsis were significantly improved after surgery (P<0.001). The patient who had a smaller deviation in the preoperative period had good surgical success in the postoperative period.(P <0.001). The type of deviation, age, gender, pre-operative amblyopia, and binocular vision were not related to the surgical success.</p><p><strong>Conclusion: </strong>In cases of horizontal concomitant strabismus, the preoperative amount of deviation is the paramount factor influencing surgical success. Notably, surgical success is low in patients with large preoperative deviation.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"5-12"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case Report of Orbital Venolymphatic Malformation - A diagnostic dilemma.","authors":"Priyanka Sunda, Ankita Jakhar, Shaheen Farooq, Shweta, Mohnish Bothra, Anju Kochar","doi":"10.3126/nepjoph.v16i1.59775","DOIUrl":"10.3126/nepjoph.v16i1.59775","url":null,"abstract":"<p><strong>Introduction: </strong>Intermittent proptosis is a transitory position-dependent protrusion of one or both eyeballs beyond orbit. The common causes of proptosis in young females are tumors, inflammation, trauma, thyroid eye disease and vascular lesions. The case report highlights the importance of imaging in prone position.</p><p><strong>Case: </strong>We report a rare case of a 24-year-old female who recently developed intermittent proptosis while bending forwards. The patient was evaluated clinically. Ultrasonography B scan, Computerised axial tomography (CT), Magnetic resonance imaging (MRI) were advised to rule out orbital varices, arteriovenous aneurysm, or any organic lesion. Probable diagnosis of venolymphatic malformation was made.</p><p><strong>Conclusion: </strong>An intertwined approach was carried out with Ophthalmologist and Radiologist to arrive at the final diagnosis highlighting the importance of imaging in prone position.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"103-107"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systemic Biomarkers Predictive of Anatomical and Functional Outcomes of Macular Edema Secondary to Retinal Vein Occlusion Following a Single Injection of Intravitreal Bevacizumab.","authors":"Shivraj Tagare, Manavi D Sindal","doi":"10.3126/nepjoph.v16i1.58649","DOIUrl":"10.3126/nepjoph.v16i1.58649","url":null,"abstract":"<p><strong>Introduction: </strong>Macular edema (ME) secondary to retinal vein occlusion (RVO) is a leading cause for visual impairment.</p><p><strong>Objective: </strong>To identify the systemic biomarkers that influence the anatomical and functional outcomes of a single injection of intravitreal bevacizumab (IVB) for RVO related macular edema ME.</p><p><strong>Methodology: </strong>A prospective interventional study was conducted on patients with treatment naïve RVO induced ME, from November 2019 to April 2021 after ethical approval. All participants underwent a complete systemic evaluation consisting of blood pressure measurement, blood sugar, glycosylated hemoglobin, hemoglobin, total and differential cell counts, lipid profile and renal function tests at baseline. IVB was administered for RVO induced ME. Anatomical outcome was measured as change in macular thickness from baseline to one month after treatment on optical coherence tomography and functional outcomes were improvement in visual acuity.</p><p><strong>Result: </strong>Median best corrected visual acuity improved from 0.56±0.39 to 0.4±0.4 LogMAR (p <0.001) with significant reduction in mean central retina thickness (CRT) from 609.9±216.5 μ to 337.6±168.2 μ (p <0.001) at one month. On evaluating systemic parameters, longer duration of hypertension (r = -0.2795, p = 0.037), and those with higher eosinophil count (r = -0.2595, p = 0.025) were less likely to have a reduction in CRT. Higher HDL levels (r = 0.2505, p = 0.031) and better RBC counts (r = 0.2732, p = 0.016) were more likely to be predictive of a better reduction of CRT.</p><p><strong>Conclusion: </strong>Patients with RVO related ME can experience visual improvement and reduction in edema at initiation of treatment. Systemic biomarkers correlating to those for cardiovascular morbidity influence outcomes of ME. Optimum management of these modifiable systemic biomarkers can enhance treatment outcomes.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"31-43"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Topical Atropine Induced Acute Psychosis - A case report.","authors":"Rabindra Singh Thakuri, Deepak Dhakal, Sagar Tiwari, Polina Dahal, Kaushal Pokhrel, Sanjeeb Bhandari","doi":"10.3126/nepjoph.v16i1.76997","DOIUrl":"10.3126/nepjoph.v16i1.76997","url":null,"abstract":"<p><strong>Introduction: </strong>Atropine, an anticholinergic agent is widely used topical agent in ophthalmology practice. We present a case report on central anticholinergic syndrome in a patient receiving topical atropine. Case and observation: An eighty-two years old female who had received a penetrating keratoplasty five years ago in the left eye for non-healing corneal ulcer which had failed within 6 months presented with long standing pain in the eye. She was on topical carboxymethylcellulose 1% and moxifloxacin since the last two weeks and was against the advice for evisceration. We used 1% atropine sulphate eyedrops thrice daily for persistent pain of the left eye. Three days after using topical atropine, she developed acute psychomotor agitation, disorientation, confusion and lack of insight with visual hallucination and lowered level of consciousness. These symptoms resolved after cessation of topical atropine and reappeared on its use. A single dose rechallenge under the supervision of a psychiatrist confirmed that the acute psychosis was induced by topical atropine. The reaction was definite according to Naranjo's algorithm.</p><p><strong>Conclusion: </strong>The present case shows that a patient on topical atropine can experience central nervous system side effects seen with systemic absorption. The possibilities of such side effects warrants discussion in patients receiving the medication in routine ophthalmology practice.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"98-102"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beauty of Black and White: Autofluorescence-aided Differentiation of Serpiginous Choroiditis from Tubercular Serpiginous-Like Choroiditis.","authors":"Anadi Khatri, Shanti Gurung, Ranju Kharel Sitaula, Sweta Singh, Anh N T Tran, Amir Akhavanrezayat","doi":"10.3126/nepjoph.v16i1.76996","DOIUrl":"10.3126/nepjoph.v16i1.76996","url":null,"abstract":"<p><strong>Introduction: </strong>FAF is non-invasive, and important adjunctive tool to evaluate the progression of lesions in patients with SC. FAF can even help distinguish probable etiology by specific pattern recognition. The current index study analyzed and reported the strength of specific patterns to be more representative of SC or TB SLC.</p><p><strong>Objective: </strong>To characterize fundus autofluorescence (FAF) images for differentiating serpiginous choroiditis (SC) from tubercular serpiginous-like choroiditis (TB SLC).</p><p><strong>Methodology: </strong>The index study is a retrospective comparative analysis of FAF images of 25 consecutive patients, 11 with TB SLC and 14 with SC. The diagnosis of SC was made based on the clinical appearance and FAF findings, while TB SLC was additionally considered in patients with positive laboratory investigations and/or radiological tests for tuberculosis (TB) exposure or infection and therapeutic response to anti-tubercular therapy. The characteristic features evaluated on FAF images were centrality, multifocality, and parapapillary involvement of the lesion with or without extension.</p><p><strong>Result: </strong>Twenty-five patients (13 males, 12 females) with a mean age of 46.2 (SD 10.08) years were enrolled in the study. SC lesions were more central (ρ=0.92) and confluent (ρ=0.774). Parapapillary involvement was found to be associated with SC (ρ=0.690), and with extensions of the lesions along the arcades or the macular region, the association increased (ρ=0.786). Multifocality with peripheral lesions was negatively associated with SC (ρ=- 0.831).</p><p><strong>Conclusion: </strong>Centrally involving lesions with confluency on FAF is strongly associated with SC. Parapapillary involvement alone is considered characteristic for SC, but the current study has demonstrated that extension of this lesion along the arcades or the macular region is even more characteristic for SC.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"62-73"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment Outcome of Subthreshold Micropulse Green Laser SMGL (532 nm) in Chronic Central Serous Chorioretinopathy.","authors":"Ichhya Joshi, Lalit Agarwal, Deepti Pradhan, Archana Kumari Prasad","doi":"10.3126/nepjoph.v16i1.60266","DOIUrl":"10.3126/nepjoph.v16i1.60266","url":null,"abstract":"<p><strong>Introduction: </strong>Subthreshold micropulse green laser (532nm) is effective for treatment of chronic CSCR with promising results.</p><p><strong>Objectives: </strong>To assess the treatment outcome of a single session subthreshold micropulse green laser (SMGL) 532nm in chronic central serous chorioretinopathy (CSCR).</p><p><strong>Methods: </strong>This was a prospective noncomparative consecutive case series. Eyes with chronic CSCR were treated with SMGL and evaluated at 1- and 3-months post laser. Best Corrected Visual Acuity (BCVA) and Central Macular Thickness (CMT), and Subretinal Fluid Height (SFR) following laser were evaluated.</p><p><strong>Results: </strong>A total of 16 eyes of 13 patients with the diagnosis of chronic CSCR were enrolled in this study. The mean age of the patients was 45 years (range 31-60 years). All of the patients had a history of CSCR of more than 4 months duration (mean 7.9 months ± 3.01). The median baseline BCVA was 0.4 log MAR which improved to 0.25 log MAR. Of the 16 eyes, 1 eye had 3 lines of improvement (6.25%), 4 eyes had 2 lines of improvement (25%), and 3 eyes had 1 line of improvement (18.75%) and 8 eyes-maintained vision (50%). The mean SRF height pre and post laser was 191.813 µm and 54.93 µm, respectively (P<0.001). Similarly, the mean CMT pre and post laser was 328.18 µm and 242.87 µm, respectively (P<0.009). There was complete resolution of PED in 3 out of 5 eyes (60%).</p><p><strong>Conclusion: </strong>Subthreshold micropulse green laser (532nm) is effective for treatment of chronic CSCR with promising results.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"20-30"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TIMP3 c.319C>T, p.(Arg107Cys): Novel Sequence Variant In Sorsby Fundus Dystrophy.","authors":"Rozaliya Hristova, Nevyana Veleva, Alexander Oscar, Svetoslav Slavchev, Yani Zdravkov","doi":"10.3126/nepjoph.v16i1.63004","DOIUrl":"10.3126/nepjoph.v16i1.63004","url":null,"abstract":"<p><strong>Introduction: </strong>Sorsby fundus dystrophy is a rare autosomal dominant inherited retinal disease. The purpose of this case report is providing evidence to link the novel variant TIMP3 c.319C>T, p.(Arg107Cys), classified as variant of uncertain significance, to the clinical phenotype and to consider assignment of pathogenicity.</p><p><strong>Case: </strong>Thorough history and comprehensive ophthalmological exam of a 51-year old female with presenile cataract and difficulty in night vision were conducted. Visual acuity was 0.15 logMAR and 0.05 logMAR in the right and left eye, respectively.</p><p><strong>Observations: </strong>The examination was remarkable for pseudophakia in the left eye and bilateral drusenoid deposits. Visual fields demonstrated reduced retinal sensitivity. Optical coherence tomography showed drusen in the periphery. Fundus autofluorescence demonstrated corresponding hyper-autofluorescence. Electroretinography depicted reduced bioelectrical activity for scotopic conditions. Genetic testing identified a heterozygous missense, splice region variant TIMP3 c.319C>T, p.(Arg107Cys), which is a variant of uncertain significance and no other possible disease causing mutations.</p><p><strong>Conclusion: </strong>Based on our findings we propose assignment of pathogenicity to the novel variant TIMP3 c.319C>T, p.(Arg107Cys) as likely pathogenic in Sorsby Fundus Dystrophy.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"16 31","pages":"87-93"},"PeriodicalIF":0.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}