Nepalese Journal of Ophthalmology最新文献

{"title":"Acquired ankyloblepharon post purulent membranous conjunctivitis and its novel surgical management: A case report.","authors":"Nidhi Sharma,&nbsp;Anjali Nagar","doi":"10.3126/nepjoph.v14i2.37788","DOIUrl":"https://doi.org/10.3126/nepjoph.v14i2.37788","url":null,"abstract":"<p><strong>Introduction: </strong>Ankyloblepharon is a partial or complete fusion of eyelids by webs of skin. It may be congenital or acquired. Herein we report a rare case of acquired bilateral ankyloblepharon that developed after purulent membranous conjunctivitis. We will also discuss its unique surgical management which has not been reported previously in the literature.</p><p><strong>Case: </strong>A 21 year old male presented with complaints of narrowing of eyes for the last six months following an attack of acute purulent membranous conjunctivitis. Surgical excision of the adhesions was done. We used conjunctival autograft to cover the raw area left after excision as a new modality of treatment. The graft was successfully taken up and no recurrence of adhesions was found at 1 year follow up.</p><p><strong>Observations: </strong>Various modalities of treatment for ankyloblepharon have been reported which includes excision of tissue and suturing and amniotic graft. Here we have used conjunctival autograft on the raw area after excision of adhesions and the result obtained was good.</p><p><strong>Conclusion: </strong>To the best of our knowledge this is the first and a rare case of acquired ankyloblepharon in a young male following a single episode of purulent membranous conjunctivitis. Conjunctival autograft can be successfully used to cover the raw areas left after excision of adhesions.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 28","pages":"155-160"},"PeriodicalIF":0.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10115348","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":"Comparison of central macular thickness between diabetic patients without clinical retinopathy and non-diabetic patients.","authors":"Upasana Pokhrel,&nbsp;Eli Pradhan,&nbsp;Rabindra Singh Thakuri,&nbsp;Kaushal Pokhrel,&nbsp;Govinda Paudyal","doi":"10.3126/nepjoph.v14i2.40259","DOIUrl":"https://doi.org/10.3126/nepjoph.v14i2.40259","url":null,"abstract":"<p><strong>Introduction: </strong>Diabetic retinopathy (DR) is one of the leading causes of blindness in patients between 20 and 60 years of age which can be prevented by early detection of diabetic retinopathy. The duration of diabetes is probably the strongest predictor for development and progression of retinopathy. Optical Coherence Tomography (OCT) is a recent advance in imaging which is sensitive in early detection of small changes in macular thickness.</p><p><strong>Materials and methods: </strong>This hospital based cross-sectional study was done at a tertiary referral center in Kathmandu, Nepal where 364 eyes of 182 patients (182 eyes in 91 patients in each group diabetes without retinopathy group and nondiabetic group) were evaluated. Thickness of the macula was determined by using Spectral Domain Optical Coherence Tomography (SD- OCT) and compared between diabetic patients without clinical retinopathy and nondiabetic patients.</p><p><strong>Results: </strong>The mean CMT as measured by Spectral Domain Optical Coherence Tomography in diabetic patients was 236.29±40.31 µm whereas it was 244.25±30.51 µm in non-diabetic cases. The mean central macular thickness of diabetic patients with duration of diabetes less than 1 year, 1-5 years, 6-10 years, 11-15 years and more than 15 years were 217.19±42.22, 233.49±45.69, 248.5±31.37, 250.89±21.62 and 240.75±11.26 respectively.</p><p><strong>Conclusions: </strong>This study concluded that in diabetic patients there was an initial decrease in central macular thickness which gradually increased with increasing duration of diabetes mellitus. Examination of macular thickness could be a useful modality to evaluate progression of disease before appearance of other clinical signs of diabetic retinopathy.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 28","pages":"41-48"},"PeriodicalIF":0.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10433916","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":"Proliferative diabetic retinopathy detection: Comparison of clinical examination, optomap photographs and fluorescein angiography.","authors":"Ramesh Venkatesh,&nbsp;Nikitha Reddy,&nbsp;Chaitra Jayadev,&nbsp;Ram Snehith Pulipaka,&nbsp;Naresh Kumar Yadav,&nbsp;Thirumalesh Mochi Basavaraj","doi":"10.3126/nepjoph.v14i2.39516","DOIUrl":"https://doi.org/10.3126/nepjoph.v14i2.39516","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to analyse the clinical retinal examination findings and undilated Optomap ultrawide field retinal imaging for the detection of proliferative diabetic retinopathy (DR) as compared to the fluorescein angiography (FA).</p><p><strong>Materials and methods: </strong>In this retrospective cross-sectional study, five hundred and twenty-three patients diagnosed with diabetic retinopathy on dilated retinal examination underwent fluorescein angiography and undilated Optomap imaging. Fluorescein angiography and undilated Optomap images were graded by masked graders and the diagnosis was labelled either as proliferative diabetic retinopathy or non-proliferative diabetic retinopathy. Sensitivity and specificity was calculated comparing the diagnosis obtained from the dilated retinal examination and the undilated Optomap images against the fluorescein angiography image findings.</p><p><strong>Results: </strong>Gradable quality fluorescein angiography and undilated Optomap images with a clinical diagnosis mentioned in the medical record for that particular visit were available in 980 (right eye - 656; 67%; left eye - 324; 33%) eyes of 496 patients. There were 332 (67%) males and 164 (33%) females with a mean age of 60.3 ± 9.51 years (range: 32 - 81 years). Sensitivity of clinical examination and undilated Optomap images in accurately identifying proliferative diabetic retinopathy was 63.5% and 43.5% respectively. Specificity of clinical examination and undilated Optomap images in accurately identifying proliferative diabetic retinopathy was 88.5% and 76.2% respectively. On comparison of the undilated Optomap imaging findings against the clinical examination findings, the sensitivity and specificity were 47.7% and 75.1% respectively.</p><p><strong>Conclusion: </strong>Both clinical fundus evaluation and undilated Optomap imaging were relatively inferior to fluorescein angiography in the detection of proliferative diabetic retinopathy, which hence remains the choice of imaging modality giving scope for wider application.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 28","pages":"86-96"},"PeriodicalIF":0.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10115349","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":"Screening of Accompanying First Degree Relatives of Patients with Primary Open Angle Glaucoma.","authors":"Indira Paudyal,&nbsp;Roshan Yadav,&nbsp;Anil Parajuli,&nbsp;Kalpana Singh,&nbsp;Prathibha Lama Joshi,&nbsp;Suman Thapa","doi":"10.3126/nepjoph.v14i1.39240","DOIUrl":"https://doi.org/10.3126/nepjoph.v14i1.39240","url":null,"abstract":"<p><strong>Introduction: </strong>Glaucoma is one of the common causes of blindness worldwide, and the leading cause of irreversible blindness .The overall prevalence of glaucoma in Nepal is 1.9%. Though poorly understood, primary open angle glaucoma (POAG) is believed to have a genetic or familial component that may occur through polygenic or multifactorial transmission. First-degree relatives of POAG patients have 4-16% risk of developing POAG. Given the circumstances and the prevalence of POAG in first degree relatives of POAG patients, screening the first degree relative/s accompanying the patient to the hospital can be a cost effective and viable tool for glaucoma screening that will not add any extra cost of travel and accommodation.</p><p><strong>Materials and methods: </strong>The authors performed a hospital-based cross-sectional study at a tertiary eye hospital in Nepal. All first-degree family members of POAG patients who accompanied them to the glaucoma clinic underwent a full ophthalmic examination.The optic disc was evaluated and intraocular pressure (IOP) was measured. POAG and glaucoma suspect were defined as per ISGEO classification.</p><p><strong>Results: </strong>Sixty one first degree relatives of 54 glaucoma patients were examined. The mean age was 30.67 years (±12.71). Fifty five(90.2%) of 61 of accompanying first degree relatives were off springs, 6 (9.8%) were siblings. Five out of 61 (8.2%) were diagnosed as glaucoma and started on anti-glaucoma medication. Fourteen participants (23%) were glaucoma suspects. Forty two (68.9%) of the participants had no sign of glaucoma.</p><p><strong>Conclusion: </strong>Ocular examination of the first-degree relatives accompanying POAG patients helped to identify a remarkable number of individuals with glaucoma and thus might be used as an effective and viable tool for screening glaucoma in a hospital setting. Awareness regarding glaucoma is very low even among the first degree relatives of glaucoma patients.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 27","pages":"4-9"},"PeriodicalIF":0.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40435927","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":"Endoscopic Endonasal Dacryocystorhinostomy under Local Anesthesia or Assisted Local Anesthesia.","authors":"Diwa Hamal,&nbsp;Prerna Arjyal Kafle,&nbsp;Binaya Lamichhane,&nbsp;Afaque Anwar,&nbsp;Sanjaya Kumar Singh","doi":"10.3126/nepjoph.v14i1.21971","DOIUrl":"https://doi.org/10.3126/nepjoph.v14i1.21971","url":null,"abstract":"<p><strong>Introduction: </strong>Endoscopic Endonasal Dacryocystorhinostomy (EENDCR) is effective, safe and less time consuming procedure and scar free to manage patients with epiphora. Traditionally, EENDCR is performed under general anesthesia. Limited general anesthesia facility in our country has made EENDCR surgery limited to the hospitals with GA facilities. EENDCR surgery under local or assisted local anesthesia could be an alternative solution. The aim of the study was to study the pain tolerability of the patient undergoing EENDCR under local anesthesia (LA) or assisted local anesthesia (ALA). To the best of our knowledge, there is a lack of similar studies in Nepal.</p><p><strong>Materials and methods: </strong>This was a prospective, nonrandomized, interventional study done at a tertiary eye care center. After sample collection the study was aimed to evaluate the pain tolerability of patients undergoing EENDCR under LA or ALA. The case collection and the surgery were done by a single surgeon from 2018 Jan- 2019 April and followed for 6 to 24 months. All consecutive cases were enrolled in the study. Informed consent was obtained from all the patients. Inclusion criteria included chronic dacryocystitis with NLDO (Nasolacrimal duct obstruction), lacrimal sac mucocele and lacrimal sac pyocele. Previously failed DCR surgery was not included in the study. Total of 100 patients of EENDCR with a tube who completed a minimum 6 months follow up postoperatively were included in the study. Verbal rating scale (VRS) was used to report response to pain during different steps of surgery.</p><p><strong>Results: </strong>There were 100 patients within the age range of 13-41 years of age. One hundred and six EENDCR were performed on 100 patients. Eighty-seven patients were adult (19-41) years and 13 patients were of pediatrics age group (13-18) years. There were 74 female and 26 male patients. Thirty-seven were RE (right eye), 57 were LE (Left eye) and 6 were BL (bilateral). Duration of illness was less than 6 months in 9 patients and more than 6 months in 91 patients. Ninety-two eyes were operated under LA and fourteen eyes of 11 patients asked for sedation in addition to local anesthesia (ALA). Patients reported pain during the creation of the bony ostium with Keryson's rounger (24 eyes, VRS 3-4) and while using the drill (19 eyes, VRS 5-6). On pain scoring, there was no pain (0-2) in patients who underwent EENDCR under ALA. Pain scoring in patients who underwent EENDCR under LA showed no pain (0-2) in 51.08%, mild pain (3-4) in 26.08%, and moderate pain (5-6) in 20.65%. Duration of surgery ranged from 15 to 45 minutes. Duration of follow up was 6- 24 months. There was a 96.2% success rate in this study.</p><p><strong>Conclusion: </strong>EENDCR can be done under LA or ALA depending on the indication and demand of the patient.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 27","pages":"10-18"},"PeriodicalIF":0.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40435928","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":"Modified Wheeler Technique with Inferior Lid Retractor Plication for Senile Entropion.","authors":"Syeed Mehbub Ul Kadir,&nbsp;Farhat Jahan,&nbsp;Md Tauhidur Rahman,&nbsp;Sharmin Ahmed,&nbsp;Md Golam Haider,&nbsp;Ben Limbu","doi":"10.3126/nepjoph.v14i1.36840","DOIUrl":"https://doi.org/10.3126/nepjoph.v14i1.36840","url":null,"abstract":"<p><strong>Introduction: </strong>The study aimed to assess the outcome of the modified wheeler technique with lower eyelid retractor plication for the correction of Involutional (senile) entropion among the study patients Materials and methods: A retrospective case series study was conducted in two tertiary eye hospitals of Bangladesh from 1 July to 31 December, 2020. This study included all patients undergoing modified wheeler technique with inferior lid retractor plication and followed up to at least one year and six months between 01 January 2015 to 31 December, 2019. All patients were suffering from senile entropion of the lower eyelid. All surgeries were performed by a single surgeon and the study sample size was selected purposively. Patients were operated by the modification of modified wheeler technique for the correction of lower eyelid entropion in this study. The outcome of the surgical techniques was assessed at regular intervals on each follow up.</p><p><strong>Results: </strong>Thirty eyes of thirty patients were evaluated. Success rate was 100% in the 18 months follow up time with no recurrence in any. Ecchymosis, skin scarring and/or minimal pain were observed as post-operative complications.</p><p><strong>Conclusion: </strong>The modified wheeler technique with inferior eyelid retractor plication is the definitive and permanent procedure for the correction of involutional entropion with minimal or no recurrence.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 27","pages":"103-111"},"PeriodicalIF":0.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40631288","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":"Clinico-epidemiological Study of Patients with Glaucoma in a Tertiary Eye Center, Nepal.","authors":"Nirsara Shrestha,&nbsp;Sangeeta Shrestha,&nbsp;Deepak Khadka,&nbsp;Arjun Shrestha,&nbsp;Barsha Suwal,&nbsp;Samata Sharma","doi":"10.3126/nepjoph.v14i1.34285","DOIUrl":"https://doi.org/10.3126/nepjoph.v14i1.34285","url":null,"abstract":"<p><strong>Introduction: </strong>Major cause of irreversible blindness is glaucoma which is increasing as a significant global health problem. Knowledge of glaucoma burden and its clinical characteristics in this region is essential.</p><p><strong>Materials and methods: </strong>This was a cross-sectional hospital -based study conducted at Glaucoma unit in CHEERS Hospital, Bhaktapur from August 2015 to July 2019. Patients' demographic profile, along with comprehensive eye examination findings were reviewed from the records. Data analysis was done with IBM SPSS version 24 and was presented in mean (±SD), frequency and proportions and a chi- square test was applied. P value < 0.05 was considered statistically significant.</p><p><strong>Results: </strong>Total of 310 glaucoma cases were included in this study. The mean age presentation was 61.89±14.4 years, and the majority of patients (52.9%) were in the age group 60-79 years. Most patients had primary open angle glaucoma (171, 55.2%) followed by primary angle closure glaucoma (92, 29.7%).</p><p><strong>Conclusion: </strong>Primary open angle glaucoma is the most common form of glaucoma. The proportion of glaucoma increased with increasing age (> 40 years). Provision of screening programs targeting persons with risk factors and opportunistic eye examinations would be beneficial in detection of glaucoma.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 27","pages":"122-129"},"PeriodicalIF":0.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40632733","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":"Scleral Abscess of the Infusion Port Site Following Pars Plana Vitrectomy and its Management.","authors":"Tarannum Mansoori,&nbsp;Arjun Srirampur,&nbsp;Satish Gooty Agraharam","doi":"10.3126/nepjoph.v14i1.34882","DOIUrl":"https://doi.org/10.3126/nepjoph.v14i1.34882","url":null,"abstract":"<p><strong>Introduction: </strong>Mycotic scleral abscess after pars plana vitrectomy (PPV) is a rare entity and a scleral abscess caused by Aspergillus flavus following PPV has not been reported in the literature. We describe the clinical presentation, complication and management outcome in a patient, who developed a mycotic scleral abscess at the infusion port site after 20 gauge pars plana vitrectomy.</p><p><strong>Case: </strong>Two weeks after pars plana vitrectomy, a patient presented with a scleral abscess at the site of infusion port. He was a known diabetic, had a history of pulmonary tuberculosis and was using steroid eye drop at the time of presentation. Surgical debridement of the abscess was performed and he was treated with topical and systemic antifungal drugs. After three days of incubation, Sabouraud dextrose agar identified growth of Aspergillus flavus. After showing initial resolution, at 4 weeks follow up, the scleral abscess was noted to have progressed to involve the adjacent cornea. Corneoscleral patch graft was performed and treatment with topical and systemic antifungal was continued, which led to complete resolution of the corneoscleral abscess with corneal opacity and scar formation, over a period of eight weeks.</p><p><strong>Conclusion: </strong>Scleral abscess is a rare complication after pars plana vitrectomy and requires early and appropriate treatment to decrease the ocular morbidity. Dissemination of the infection to involve the cornea can be managed with corneo scleral patch graft and appropriate antifungal medications to salvage the eye.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 27","pages":"191-196"},"PeriodicalIF":0.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40633142","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":"Ultrasound Immersion Technique in the Management of Intra-lenticular Foreign Body in Low Resource Setting: A Case Series.","authors":"Bikram Bahadur Thapa, Sweta Singh, Rakshya Basnet, Gyanendra Lamichhane","doi":"10.3126/nepjoph.v14i1.34300","DOIUrl":"10.3126/nepjoph.v14i1.34300","url":null,"abstract":"<p><strong>Introduction: </strong>The eye hospitals of low-income countries including Nepal are not equipped with imaging modalities including CT scan, UBM and Pentacam but most of them have ophthalmic ultrasound. We evaluate the utility of routine ultrasound for proper localization and confirmation of the intra-lenticular foreign body along with detection of the status of the posterior capsule using immersion technique.</p><p><strong>Case: </strong>Four consecutive cases with intra-lenticular foreign bodies presenting to the vitreo-retina department of Lumbini Eye Institute were included in the study. Ultrasound immersion technique was used to detect the ILFB along with x-ray. Planned ILFB removal with phacoemulsification or lens aspiration and foldable IOL implantation as a single-stage procedure was done in all the patients. They were followed up to 3 months after the surgery.</p><p><strong>Observations: </strong>Intra-lenticular location of IOFB was confirmed by ultrasound immersion technique in all 4 eyes. Intactness of the posterior capsule was also detected preoperatively in all 4 eyes. ILFBs were removed with Utrata's capsulorrhexis forcep in all cases following capsulorrhexis. Phacoemulsification was performed to remove cataract in 2 cases whereas lens aspiration with Simcoe canula was performed in other two cases. Single piece acrylic foldable intraocular lens was implanted in all cases. Posterior capsule was intact in all 4 cases intra-operatively. Features of siderosis were observed in one case. Mild postoperative uveitis was seen in all cases and was controlled with topical steroids. Best corrected visual acuity at the last examination was 6/9 or better in all cases.</p><p><strong>Conclusions: </strong>Ultrasound immersion technique is very useful tool in management of intra-lenticular foreign body at least in low resource setting. Phacoemulsification /lens aspiration with ILFB removal and IOL implantation provides good visual outcome in these eyes.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 27","pages":"183-190"},"PeriodicalIF":0.2,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40633194","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":"Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation.","authors":"Ekta Rishi, Sugandha Goel, Shikha Bassi, Pukhraj Rishi","doi":"10.3126/nepjoph.v14i1.37258","DOIUrl":"10.3126/nepjoph.v14i1.37258","url":null,"abstract":"<p><strong>Introduction: </strong>Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disease with progressive macular degeneration leading to blindness in the first three decades of life along with hypotrichosis.</p><p><strong>Case: </strong>We herein report a case of a five year old boy with hypotrichosis with juvenile macular dystrophy diagnosed with multi-modal imaging which was later confirmed by genetic testing by whole genome sequencing.</p><p><strong>Observations: </strong>Fundus examination of both eyes revealed symmetrical hypopigmentation in peripapillary retinal pigment epithelium (RPE) involving posterior pole and surrounded by a mottled hyperpigmented border. Fundus autofluorescence showed central hypo autofluorescence with surrounding hyper autofluorescence corresponding to RPE atrophy and a faint hypo autofluorescence at the junction of normal retina. SD-OCT showed segmental outer retinal and choriocapillaris atrophy temporal to fovea with interdigitation zone and ellipsoid zone loss and RPE irregularities with hyperreflective subretinal deposits at the fovea. Electroretinogram showed normal waves but a slight reduction of b wave amplitude in both eyes. He had sparse scalp-hair.</p><p><strong>Conclusion: </strong>Children with reduced vision not falling into a typical macular degeneration should be examined systemically and may just have sparse scalp hair and still have a genetic disease. A regular follow-up should be emphasized in view of progressive nature of the disease.</p>","PeriodicalId":44759,"journal":{"name":"Nepalese Journal of Ophthalmology","volume":"14 27","pages":"168-172"},"PeriodicalIF":0.2,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40633191","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}