Beyoglu Eye JournalPub Date : 2024-09-01eCollection Date: 2024-01-01DOI: 10.14744/bej.2024.79664
Anil Kaplan, Taner Akalin, Melis Palamar
{"title":"Ocular Surface Squamous Neoplasia in Renal Transplant Patients.","authors":"Anil Kaplan, Taner Akalin, Melis Palamar","doi":"10.14744/bej.2024.79664","DOIUrl":"10.14744/bej.2024.79664","url":null,"abstract":"<p><p>Transplantation surgery becomes more widespread with time worldwide; organ transplantation increases the risk of developing malignancies. This phenomenon is primarily due to immunosuppressive treatment which is one of the mainstay approaches to prevent transplant rejection. It is aimed to describe clinical signs and symptoms of histologically proven ocular surface squamous neoplasia (OSSN) in renal transplant patients. Three patients, who previously underwent renal transplant surgery, diagnosed with OSSN are presented. The histopathological examination results were conclusive for squamous cell neoplasia in all cases. No recurrence in any patients was observed after total surgical excision, cryotherapy, and reconstruction with amniotic membrane. Solid organ transplant patients undergo intense immunosuppressive treatment to prevent transplant rejection. That immunosuppressive treatment increases the risk of developing secondary malignancies including OSSN. It is important to inform all transplant patients about these risks. Even though OSSN is known to be a relatively benign acting tumor that rarely metastasizes to distant organs, the clinical course might change if it develops in an immunocompromised patient. For this reason, these patients should be monitored for any formation of a mass on the ocular surface. Surgical management through complete excision can result in the complete resolution of a tumor.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Evaluation of Choroidal Structures in Children with Newly Diagnosed Type-1 Diabetes Mellitus.","authors":"Serdar Bilici, Tuba Gultekin Erol, Meliha Esra Bilici, Silay Canturk Ugurbas, Suat Hayri Ugurbas","doi":"10.14744/bej.2024.36036","DOIUrl":"10.14744/bej.2024.36036","url":null,"abstract":"<p><strong>Objectives: </strong>The objective of this study was to evaluate the subfoveal choroidal thickness (SFCT) and choroidal vascularity index (CVI) in children with newly diagnosed type 1 diabetes mellitus (T1DM).</p><p><strong>Methods: </strong>A total of 80 children (40 with T1DM and 40 healthy controls) were included in this cross-sectional study. Enhanced depth imaging optical coherence tomography (EDI-OCT) images of all participants were analyzed. The SFCT, total choroidal area (TCA), luminal area (LA), stromal area (SA), and CVI measurements were obtained from EDI-OCT images and compared between groups. The effects of HbA1c, fasting plasma glucose, and axial length measurements on choroidal measurements were investigated.</p><p><strong>Results: </strong>There was no significant difference between the groups according to TCA (0.84 [0.57-1.26] vs. 0.88 [0.65-1.16] mm<sup>2</sup>, p=0.745), LA (0.55 [0.41-0.79] vs. 0.59 [0.43-0.74] mm<sup>2</sup>, p=0.745), SA (0.27 [0.15-0.47] vs. 0.28 [0.15-0.47] mm<sup>2</sup>, p=0.935), and CVI (68.03 [66.5-70.5] vs. 67.75 [66.2-69.5] %, p=0.794), respectively. However, T1DM patients had thinner SFCT compared to control subjects (309.0 [327-489] and 398.5 [219-491], p<0.044). No correlation was found between HbA1c, fasting plasma glucose, axial length measurements, and SFCT, TCA, LA, SA, or CVI.</p><p><strong>Conclusion: </strong>Children with newly diagnosed T1DM have thinner SCFT in comparison to healthy children, however, no significant difference in CVI was observed between the groups. Long-term follow-up should be used to confirm the impact of the DM duration on CVI.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Beyoglu Eye JournalPub Date : 2024-09-01eCollection Date: 2024-01-01DOI: 10.14744/bej.2024.22590
Murat Garli, Sevda Aydin Kurna, Eren Gozke, Nihan Parasiz Yukselen
{"title":"Evaluation of Peripapillary Choroidal Thickness, Retinal Nerve Fiber Layer, and Optic Nerve Head Parameters in Patients with Multiple Sclerosis.","authors":"Murat Garli, Sevda Aydin Kurna, Eren Gozke, Nihan Parasiz Yukselen","doi":"10.14744/bej.2024.22590","DOIUrl":"10.14744/bej.2024.22590","url":null,"abstract":"<p><strong>Objectives: </strong>The objectives of the study are to assess the peripapillary choroidal thickness (PPCT), retinal nerve fiber layer (RNFL), and optic nerve head (ONH) parameters in multiple sclerosis (MS) patients compared to healthy subjects.</p><p><strong>Methods: </strong>One hundred and twenty-eight eyes from 64 patients were included in this cross-sectional study. Eighty-two eyes of 41 MS patients and 46 eyes of 23 healthy subjects were examined. PPCT and RNFL were measured using spectral-domain optical coherence tomography (OCT). PPCT was measured from the four quadrants around the optic disc at a distance of 1 mm (PPCT-1) and 2 mm (PPCT-2) from the edge of the ONH and the beginning of the retinal pigment epithelium. ONH parameters were measured with Heidelberg retinal tomography (HRT-3). Disease duration, the number of episodes, MS subtypes, and Expanded Disability Status Scale (EDSS) scores were recorded.</p><p><strong>Results: </strong>The RNFL measurements and the mean PPCT-1 and PPCT-2 were significantly lower in MS patients compared to healthy individuals. PPCT-1 and PPCT-2 were measured as the thickest in the temporal quadrant, followed by the superior, nasal, and inferior quadrants, respectively, in both groups. When the ONH parameters were evaluated, cup/disc area ratio, cup area, and cup volume values were significantly higher, whereas optic rim volume and rim area values were significantly lower in MS patients compared to healthy subjects (p<0.05). We observed significant changes in RNFL and ONH parameters of MS patients in parallel with disease severity determined by EDSS scores and the presence of optic neuritis.</p><p><strong>Conclusion: </strong>There were significant changes in RNFL thickness, PPCT, and ONH parameters when MS patients were compared with healthy subjects. Assessment of RNFL and PPCT with OCT and ONH with HRT-3 may be useful in the follow-up of MS patients.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Orbital Metastasis from Breast Cancer: Three Cases and Brief Review of the Literature.","authors":"Mukaddes Damla Ciftci, Gurdeniz Serin, Naim Ceylan, Levent Yeniay, Melis Palamar","doi":"10.14744/bej.2024.83193","DOIUrl":"10.14744/bej.2024.83193","url":null,"abstract":"<p><p>Metastatic disease is a relatively rare cause of orbital tumors. While many different types of primary malignancies have been documented, lung and breast cancers are the most prevalent ones among them. Herein, three cases of orbital metastasis from breast cancer are reported. The first patient had no history of primary malignancy, and the initial presentation was orbital metastasis from advanced breast cancer. The second patient had a history of neo-adjuvant chemotherapy, mastectomy, and adjuvant radiotherapy. The recurrence of the disease was diagnosed via symptomatic metastasis to orbit involving the lateral rectus muscle. The third patient had a history of mastectomy, adjuvant radiotherapy, and hormone therapy. Considering that even patients without a diagnosis of primary malignancy may present with orbital metastasis, ophthalmologists' awareness of this issue is critical.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Beyoglu Eye JournalPub Date : 2024-09-01eCollection Date: 2024-01-01DOI: 10.14744/bej.2024.76093
Rashim Thakur, Umit Yasar Guleser, Cem Kesim, Ziya Kapran, Ilknur Tugal-Tutkun, Murat Hasanreisoglu
{"title":"The Relevance of Bacillary Layer Detachment and Choroidal flow Insufficiency in Unilateral Acute Idiopathic Maculopathy Associated with Hand, Foot, and Mouth Disease: A Case Report.","authors":"Rashim Thakur, Umit Yasar Guleser, Cem Kesim, Ziya Kapran, Ilknur Tugal-Tutkun, Murat Hasanreisoglu","doi":"10.14744/bej.2024.76093","DOIUrl":"10.14744/bej.2024.76093","url":null,"abstract":"<p><p>In a case of unilateral acute idiopathic maculopathy (UAIM) following hand, foot, and mouth disease, we aim to discuss the decreased perfusion of choriocapillaris secondary to systemic inflammation as shown by optical coherence tomography angiography (OCTA) and to assess the prognostic significance of bacillary layer detachment (BALAD). A 33-year-old male presented with a decrease of vision in the right eye (OD) for 5 days preceding viral prodromal symptoms and vesicular lesions on bilateral palms and soles along with vesicles and ulcers on the oral mucosa. The best-corrected visual acuity was finger counting at 1 meter distance in OD and 20/20 in his left eye (OS). Dilated fundus examination revealed a circular white-grey dome-shaped elevated lesion at the macula indicative of serous retinal detachment in OD. Spectral-domain optical coherence tomography demonstrated BALAD associated with adjacent subretinal and intraretinal fluid along with pigment epithelium detachment and disruption of ellipsoid and interdigitation zones. OCTA showed decreased choriocapillaris perfusion. All the investigations were normal in OS. The resolution of BALAD occurred during the first 2 days, which was followed by gradual improvement of choriocapillaris flow that lasted 2 months. UAIM is associated with hand, foot, and mouth disease. OCTA demonstrates both qualitative and quantitative data by detecting alterations in the choriocapillaris flow, which could be monitored during the disease course.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Beyoglu Eye JournalPub Date : 2024-09-01eCollection Date: 2024-01-01DOI: 10.14744/bej.2023.48640
Kubra Serbest Ceylanoglu, Fatma Busra Altas, Emine Sen, Fatma Corak Eroglu, Sule Yenigun
{"title":"A Decade of Evisceration: Investigating the Influence of Demographic, Clinical, and Psychosocial Factors.","authors":"Kubra Serbest Ceylanoglu, Fatma Busra Altas, Emine Sen, Fatma Corak Eroglu, Sule Yenigun","doi":"10.14744/bej.2023.48640","DOIUrl":"10.14744/bej.2023.48640","url":null,"abstract":"<p><strong>Objectives: </strong>The study aimed to evaluate the demographic and clinical characteristics of evisceration cases and to assess the psychosocial effects of prosthesis usage using the newly defined Global Ocular Prosthesis Score (GOPS).</p><p><strong>Methods: </strong>The records of 245 patients who underwent evisceration surgery between January 2010 and May 2021 were retrospectively reviewed. The study included 216 eyes of 216 patients who had regular follow-up of at least 6 months. Their demographic characteristics, indications for surgery, surgical methods, implant size, and complications were recorded. A total of 175 patients with ocular prostheses were evaluated using a 20-item questionnaire called GOPS.</p><p><strong>Results: </strong>About 154 of the 216 patients were male (71.3%), and 62 were female (28.7%), with a mean age of 34.9 years (range: 3-83). The mean follow-up duration was 52.5±34.2 months (range: 6-125). Among the cases, 101 (46.7%) had a penetrating globe injury, 91 (42.1%) had painful absolute eyes, 10 (4.6%) had corneal abscess, 8 (3.7%) had painless blind eyes due to Behçet's disease, 7 (3.2%) had endophthalmitis, 1 (0.04%) had prematurity retinopathy, 1 (0.04%) had corneal melting due to toxic epidermal necrolysis, and phthisis bulbi. Most of the traumas (74.5%) were caused by young (mean age 33.6 years) males. Sphere extrusion was observed in 16 (7.4%) patients at an average of 3 months (15 days to 6 months). Tenon cyst excision was performed in two patients. The mean GOPS was 71.74.</p><p><strong>Conclusion: </strong>It has been observed that the most common reasons for evisceration in a tertiary eye hospital are globe injuries and painful eyes. Although losing an eye can have negative physical and psychological effects on patients and may prevent them from fulfilling their social roles, it has been observed that the use of ocular prostheses positively impacts patient satisfaction. The use of the GOPS questionnaire can be helpful in assessing the quality of life of evisceration patients.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Beyoglu Eye JournalPub Date : 2024-09-01eCollection Date: 2024-01-01DOI: 10.14744/bej.2024.78942
Cengiz Gül, Murat Karapapak
{"title":"Frequency of ROP Diagnosis and Treatment in Very Low Birth Weight Preterm Infants by Gestational Week and Birth Weight: A Single-Center Experience.","authors":"Cengiz Gül, Murat Karapapak","doi":"10.14744/bej.2024.78942","DOIUrl":"10.14744/bej.2024.78942","url":null,"abstract":"<p><strong>Objectives: </strong>The objective of the study was to evaluate the prevalence and potential risk factors associated with retinopathy of prematurity (ROP) in very low birth weight (BW) ROP patients stratified by different BW categories.</p><p><strong>Methods: </strong>This retrospective cohort study examined very low BW patients (≤1500 g) treated at a neonatal intensive care unit and subsequently assessed for ROP at the outpatient clinic. Data on gestational age (GA), BW, ROP severity, treatments, and outcomes were collected following international ROP classification criteria. Patients with type 1 ROP and aggressive ROP received treatment. Patients were categorized based on 250 g BW intervals, and ROP frequency and treatment rates were assessed by GA.</p><p><strong>Results: </strong>In this study, 116 patients, comprising 60.3% of females and 39.7% of males, were analyzed. The GA ranged from 23 to 34 weeks, with a mean of 30.03±2.64 weeks, while the mean BW was 1108±275 g, ranging from 370 g to 1490 g. ROP was present in 49.1% of patients and 19.8% required treatment. Lower BW and GA were significantly associated with ROP (p<0.05). ROP incidence and treatment rates varied across BW groups.</p><p><strong>Conclusion: </strong>ROP diagnosis and treatment rates have risen over time, reflecting improvements in intensive care. Categorizing premature infants based on BW facilitates the development of screening criteria tailored to neonatal intensive care units and aids in predicting ROP diagnosis and treatment rates.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Beyoglu Eye JournalPub Date : 2024-09-01eCollection Date: 2024-01-01DOI: 10.14744/bej.2024.92489
Ecem Onder Tokuc, Sevim Ayca Seyyar, Ece Basaran, Sumeyra Nur Ozdemir, Levent Karabas
{"title":"A Comprehensive Evaluation of Serum Iron Status Indicators in Patients with Age-Related Macular Degeneration.","authors":"Ecem Onder Tokuc, Sevim Ayca Seyyar, Ece Basaran, Sumeyra Nur Ozdemir, Levent Karabas","doi":"10.14744/bej.2024.92489","DOIUrl":"10.14744/bej.2024.92489","url":null,"abstract":"<p><strong>Objectives: </strong>Iron is recognized as a significant contributor to oxidative damage, and its levels tend to rise with age, potentially worsening age-related diseases. The aim of this study was to investigate the role of serum iron metabolism markers in the pathogenesis of age-related macular degeneration (AMD).</p><p><strong>Methods: </strong>The files of all AMD patients in Kocaeli University School of Medicine between January 2017 and March 2020 were reviewed retrospectively. By examining the files of AMD patients who applied to the eye outpatient clinic on the same dates, those dry AMD (dAMD) and neovascular AMD (nAMD) were recorded. As a control group, the records of patients without any AMD findings were obtained from the files of all patients who visited the clinic during the same time period. All records were recorded for analysis, including a comprehensive ophthalmological examination, laboratory data of fasting blood tests, and an internal medicine outpatient examination.</p><p><strong>Results: </strong>Of the 164 participants, 50 were dAMD patients, 51 were nAMD patients, and 63 were patients non-AMD (control group). There was a significant difference between the groups' mean corpuscular volume (MCV), serum ferritin, and total iron-binding capacity (TIBC) (p<0.050). It was observed that the ferritin of those with AMD was significantly higher than the control group, whereas MCV and TIBC were found to be significantly lower (p<0.050). There was no significant difference in serum iron marker levels between nAMD and dAMD patients (p>0.05).</p><p><strong>Conclusion: </strong>Assessing serum iron status indicators during the routine monitoring of AMD may provide insights into the associated risk profile of the condition.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Beyoglu Eye JournalPub Date : 2024-09-01eCollection Date: 2024-01-01DOI: 10.14744/bej.2024.56873
Nese Alagoz, Ihsan Cakir, Cigdem Altan, Ercument Bozkurt, Zeynep Ipekli, Erdem Erdogdu, Tekin Yasar
{"title":"Long-Term Structural Changes Observed on Gonioscopy and Anterior-Segment OCT Following Gonioscopy-Assisted Transluminal Trabeculotomy.","authors":"Nese Alagoz, Ihsan Cakir, Cigdem Altan, Ercument Bozkurt, Zeynep Ipekli, Erdem Erdogdu, Tekin Yasar","doi":"10.14744/bej.2024.56873","DOIUrl":"10.14744/bej.2024.56873","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the long-term structural changes of the anterior chamber (AC) angle following gonioscopy-assisted transluminal trabeculotomy (GATT).</p><p><strong>Methods: </strong>The AC angle of 10 eyes that underwent GATT at least 6 years previously was assessed for structural changes. A detailed gonioscopy was performed to determine the state of the cleft and the position of the trabecular flap. An anterior segment optical coherence tomography (AS-OCT) examination was performed on the corresponding areas on gonioscopy.</p><p><strong>Results: </strong>The typical finding of the angle following GATT was an open cleft with a visible trabecular flap. However, the gonioscopy of our patients revealed three different cleft appearances: open, closed, and segmentally open cleft. In the long-term, the trabecular flap re-approximated the incision site in some areas resulting in the appearance of a closed cleft on gonioscopy. On AS-OCT the cleft was identified when the lumen of Schlemm's canal was connected to the AC, while the position of the flap differed. The cleft was observed as open in median 4.0 (IQR: 2.8-6.0) clock hours. The cleft was found open mostly in the superior quadrants of the angle (nine eyes). No correlation was found between the extent of open cleft and the percentage of IOP reduction.</p><p><strong>Conclusion: </strong>AS-OCT, when used in conjunction with gonioscopy, was found helpful to evaluate the structural changes following GATT. As observed in the study, the cleft tended to close in some areas. It was found preserved mostly in the superior half of the angle in the long term.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372398/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Beyoglu Eye JournalPub Date : 2024-09-01eCollection Date: 2024-01-01DOI: 10.14744/bej.2024.58224
Ezgi Karatas, Canan Asli Utine, Banu Lebe, Mahmut Kaya
{"title":"Foveal Hypoplasia in Presumed Xeroderma Pigmentosum: A Case Report.","authors":"Ezgi Karatas, Canan Asli Utine, Banu Lebe, Mahmut Kaya","doi":"10.14744/bej.2024.58224","DOIUrl":"10.14744/bej.2024.58224","url":null,"abstract":"<p><p>We present a case of presumed xeroderma pigmentosum (XP) with concomitant foveal hypoplasia. A 50-year-old male patient with extensive bilateral symblepharon-like pseudopterygia was referred for visual rehabilitation. After dermatology consultation and ophthalmologic examination, presumed XP was diagnosed. Optical coherence tomography revealed grade 2 foveal hypoplasia. The patient was referred for genetic testing because concomitant XP and foveal hypoplasia are rare. The genetic test results revealed mutations in some genes, including the hemochromatosis genes HFE, COL1A2, Lysosome Trafficking Regulator (LYST), NF1, and HMBS. The LYST gene is known to be associated with foveal hypoplasia. Since the association of foveal hypoplasia and XP has been reported in another case in the literature, we present our case to share this rare association.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}