Fundus Appearance Research Articles

Tectonic Keratoplasty Using Acellular Preserved Human Cornea for the Inciting Eye in Sympathetic Ophthalmia

Purpose: We report a case of sympathetic ophthalmia in which the inciting eye was treated with a tectonic keratoplasty using acellular preserved human cornea.Case summary: A 68-year-old man whose left eye was injured by a nail visited our institute complaining of a recent decrease in bilateral vision. The best corrected visual acuity was 0.32 for the right eye and 0.16 for the left. On slit-lamp examination, a superior peripheral corneal perforation with no wound leakage due to iris plugging was seen in the left eye (i.e., the inciting eye). The right eye (i.e., the sympathizing eye) had mutton-fat keratic precipitates and copious fibrinoid strands in the anterior chamber. Bilateral exudative retinal detachment with choroidal folds was prominent in both eyes. The next day, the necrotic iris lump was removed from the inciting eye and adhesiolysis of the iris and tectonic keratoplasty using acellular preserved human cornea were performed. Systemic steroid was started immediately postoperatively. The exudative retinal detachment improved in both eyes and cataract surgery was undertaken for the inciting eye 4 months later. Twenty-one months after the initial visit, the uncorrected visual acuity was 1.0 in the inciting eye, and both eyes had a sunset glow fundus appearance, without optic atrophy or recurrent chorioretinitis.Conclusions: Tectonic keratoplasty using acellular preserved human cornea with anti-inflammatory treatment may be a favorable therapeutic option for the inciting eye with peripheral corneal perforation in sympathetic ophthalmia.

A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome.

A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome.

Clinical and Visual Outcomes of Dysthyroid Optic Neuropathy After Surgical Orbital Decompression.

Background: Current guidelines suggest high-dose steroids as first-line treatment for dysthyroid optic neuropathy (DON). When steroids fail, decompressive surgery is mandatory. Methods: We conducted a single-center, retrospective cohort study in a tertiary care combined Thyroid-Eye clinic in Milan, Italy. We studied 88 orbits of 56 patients that were submitted to surgical orbital decompression to treat DON from 2005 to 2020. Of these, 33 orbits (37.5%) underwent surgery as first-line treatment for DON whereas the other 55 (62.5%) were decompressed after being unresponsive to very high-dose steroids. Previous orbital surgery, concurrent neurological or ophthalmologic diseases, or incomplete follow-up were considered as exclusion criteria from this study. Surgery was considered successful if no further decompression was needed to preserve vision. Pinhole best corrected visual acuity (p-BCVA), color sensitivity, automated visual field, pupil reflexes, optic disk and fundus appearance, exophtalmometry, and ocular motility were studied before and after surgery (1 week, 1, 3, 6, and 12 months). Activity of Graves' Orbitopathy (GO) was graded using a clinical activity score (CAS). Results: Surgery was successful in 77 orbits (87.5%). The remaining 11 orbits (12.5%) needed further surgery to treat DON definitively. All parameters of visual function improved significantly at follow-up and GO inactivated (CAS <3) within 1 month. At 3 months, all 77 responding orbits had p-BCVA >0.63 whereas all of the 11 non-responding orbits had p-BCVA ≤0.63. Visual field parameters and color sensitivity were not associated with response to surgery. High-dose steroid treatment before surgery was associated with a better response rate (96% vs. 73%; p = 0.004). Balanced decompression was associated with a higher response rate compared with medial wall decompression (96% vs. 80%; p = 0.04). A significant inverse correlation was observed between final p-BCVA and the patient's age (r = -0.42; p = 0.0003). Conclusions: Surgical decompression was found to be a very effective treatment for DON. In this study, all clinical parameters improved after surgery and further intervention was rarely needed.

Cytomegalovirus Retinitis: An Overview

Alice Ditchfield Abstract Cytomegalovirus (CMV) retinitis primarily affects immunocompromised individuals. It causes full-thickness retinal necrosis and viral inclusion bodies are seen in infected cells. Patients present with painless vision loss or may be asymptomatic. It is diagnosed based on characteristic fundal appearances, often demonstrating white, wedge-shaped areas of necrosis with associated retinal haemorrhages. Treatment options […]

Unilateral blindness presumed as sudden acquired retinal degeneration syndrome (SARDS) in one Dachshund and four Maltese dogs.

To describe blindness, initially presenting as a unilateral condition and diagnosed as sudden acquired retinal degeneration syndrome (SARDS). One Dachshund and four Maltese dogs presented with unilateral blindness, for which the results of general ophthalmic examinations were insufficient to explain the blindness. All dogs were spayed females. Intraocular pressures were normal, and the optical media of the eyes were clear. Fundus appearances of the initially blind eyes were within normal variations, with slightly attenuated retinal blood vessels in some cases when compared with the sighted contralateral eyes. Electroretinography (ERG) amplitudes of the affected eyes were flat and reduced in the contralateral-sighted eyes in four dogs. One dog underwent ERG after the blindness progressed bilaterally 8 days after initial presentation (despite topical steroid medication). Two dogs had no recheck visits, but phone call follow-ups reported bilateral blindness 3 months later in one dog. One dog received no medication and retained vision in the contralateral eye until the last follow-up (94 days later). One dog received systemic cyclosporine and steroid medications and maintained vision in the contralateral eye; however, regular ERG rechecks showed a trend of declining amplitude (448 days). In this dog, optical coherence tomography (OCT) showed different stages of disorganized retinal layers as well as different retinal thickness between the eyes. Despite normal-looking fundi, ERG and OCT revealed different degrees of retinal changes between both eyes in this study. Eyes with vision might develop progressive blindness after a substantial amount of time in these presumed SARDS cases.

BESTS DISEASE: A CASE REPORT

Bests disease is an autosomal dominant hereditary macular dystrophy characterized by the presence of auto-fluorescent vitelline deposits. We report a case of a vitelliform stage of bests disease in a 23-year-old female patient. The diagnosis was made based on the fundus appearance: egg yolk macular lesion, hypofluorescence in the early stages, OCT appearance and alteration of the electro-oculogram and the electroretinogram. The exact frequency of this condition is difficult to determine and varies according to the various studies. It is thought to account for 4% of all retinal dystrophies. Its management is an annual surveillance.

Eight years follow‐up of two choroideremia patients with a new mutation of the choroideremia gene

AbstractPurpose: Choroideremia (CHM) is an inherited retinal dystrophy with an X‐linked inherited patron. It presents changes in the outer retina and choroid. CHM has a typical fundus appearance with preservation of the central retina, that progresses over the years. Fundus autofluorescence (FAF) shows the changes in the pigment distribution not only in patients but also in carriers. We present an 8‐year follow‐up of two boys affected by the disease.Methods: We studied a family with two cousins referring visual loss and nyctalopia and presented clinical findings of CHM at 11 and 10 years old. Their mothers referred that their deceased father had an important loss of visual acuity (VA) and that he had been diagnosed of Retinitis Pigmentosa. They were diagnosed of CHM with an undescribed mutation in the CHM gene c.1083_1084dupT (p.L362Sfs*56) at the Xp21.2 location. We present the patients and the carriers follow‐up.Results: During 8 years one of the patients had a progressive loss of VA. He presented a high myopic refraction and retinal changes that could be related to both conditions. His macular function decreased during the years with loss of retinal sensitivity evaluated by MAIA microperimetry, with Multifocal ERG showing a marked diminution on the central peak. His cousin has not presented important changes during the follow‐up time, preserving macular sensitivity and central visual field. Both mothers show a different AF pattern, with one geographic pattern and another sparse mottled on periphery. Carriers have not changed during these 8 years, neither in their retinal function nor in the anatomical findings.Conclusions: Evolution in CHM disease could differ in patients affected by the same mutation. Myopic defect may increase the retinal damage, with a more aggressive evolution.

Management and diagnosis of subretinal and suprachoroidal haemorrhage

AbstractSubretinal and suprachoroidal haemorrhage, particularly when central macula is involved, represent challenging clinical entities since their natural course, if left untreated, often leads to severe, progressive and irreversible vision loss, due to photoreceptor and retinal pigment epithelium (RPE) damage. Significant variation in prognosis and treatment of different types of haemorrhage dictates the need to establish the level of haemorrhage, which is primarily based on fundus appearance, as haemorrhage in different levels tends to present with a distinct configuration. Additional modalities, such as ultra‐sonography, optical coherence tomography, fluorescein angiography and focal electroretinography, contribute to diagnosis the clinical evaluation.Despite the wide range of techniques described for managing both subretinal and suprachoroidal haemorrhage, there is still no consensus among vitreoretinal surgeons on optimal approach. Pneumatic displacement with or without the intraretinal use of tissue plasminogen activator (t‐PA), pars plana vitrectomy with subretinal t‐PA and gas tamponade, pars plana vitrectomy and retinectomy for clot extraction and co‐treatment with anti‐vascular endothelial growths factors (anti‐VEGFs) and pars plana vitrectomy with choroidal blood drainage, have all been described as effective management approaches. Over the last few years, a trend towards a more timely and less invasive approach has emerged. However, the preferred technique is often determined by the level, the extent and duration of haemorrhage as well as surgeon preference.

Genetic analysis and clinical features of three Chinese patients with Oguchi disease.

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness caused by disease-causing variants in the rhodopsin kinase gene (GRK1) or the arrestin gene (SAG). Our study aims to describe the clinical features and identify the genetic defects for three Chinese patients with Oguchi disease. We conducted detailed ophthalmologic examinations for three patients from three unrelated non-consanguineous Chinese families. Targeted next-generation sequencing (targeted NGS) and copy number variations (CNVs) analysis were applied to screen pathogenic variants. Sanger sequencing validation, quantitative real-time PCR (qPCR), and segregation analysis were further performed for confirmation. Subsequently, a combined genetic and structural biology approach was used to infer the likely functional consequences of novel variants. All three patients presented with typical clinical features of Oguchi disease, including night blindness, characteristic fundus appearance (Mizuo-Nakamura phenomenon), attenuated rod responses, and negative ERG waveforms. Their visual acuity and visual field were normal. Genetic analysis revealed two pathogenic variants in SAG and four pathogenic variants in GRK1. Patient 1 was identified to harbor compound heterozygous SAG variants c.874C > T (p.R292*) and exon2 deletion. Compound heterozygous GRK1 variants c.55C > T (p.R19*) and c.1412delC (p.P471Lfs*52) were found in patient 2. In patient 3, compound heterozygous GRK1 variants c.946C > A (p.R316S) and c.1388T > C (p. L463P) were detected. We reported the first two Chinese Oguchi patients with novel GRK1 pathogenic variants (P471Lfs*52, R316S, L463P) and one Oguchi case with SAG, indicating both GRK1 and SAG are important causative genes in Chinese Oguchi patients.

Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy.

Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy.

Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease

BackgroundOguchi disease is a rare type of congenital stationary night blindness associated with an abnormal fundus appearance. It is inherited in an autosomal recessive manner where two types exist according to the gene affected; type 1 associated with S-antigen (SAG) gene mutations and type 2 associated with rhodopsin kinase (GRK1) gene mutations.PurposeThe aim of this work was to describe the clinical and genetic findings of the first two reported families of Oguchi disease in Egypt and African region.MethodsFour members of two consanguineous Egyptian families with history of night blindness since childhood underwent complete ophthalmological examination, standard automated static perimetry, fundus color photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FFA) in light-adapted state and spectral-domain optical coherence tomography (SD-OCT) of both the macula and the optic nerve head as well as central corneal thickness with repeated fundus photography following prolonged dark adaptation. Mutation screening of 7 coding exons of GRK1 gene and 15 coding exons of SAG gene as well as some flanking regions were performed using Sanger sequencing technique. The variants were tested for pathogenicity using different in silico functional analysis tools.ResultsThe clinical examination and investigations confirmed Oguchi disease phenotype. One patient showed p.R193* (c.577C > T) which is a previously reported SAG gene mutation in a homozygous form. The other three patients from a different family showed (c.649–1 G > C), a novel canonical splice site SAG gene mutation in a homozygous form.ConclusionThe identification of the novel canonical splice site SAG gene variant in three members of the same family with clinically confirmed Oguchi disease reinforces its pathogenicity. A fourth patient from another family carried a previously reported mutation in the same gene. SAG gene variants may be the underlying genetic cause for Oguchi disease in Egypt. Our findings have expanded the spectrum of Oguchi disease-associated mutations in SAG gene and may serve as a basis for genetic diagnosis for Oguchi disease.

Changes in Pattern and Multifocal Electroretinogram in Tuberculosis Patient with Ethambutol Therapy

Introduction: Tuberculosis (TB) is a world health problem, especially in Indonesia as the third biggest country for new emerging TB patients. Ethambutol is one of the standard therapies to treat TB patients in Indonesia. Ethambutol has a side effect called ethambutol optic neuropathy which is hard to diagnose due to normal fundus appearance in most cases and therefore often detected late. Early detection is necessary so that permanent damage can be prevented. Examination pattern electroretinography (pERG) and multifocal electroretinography (mfERG) have the advantage to detect and confirm ocular toxicity by ethambutol after the clinical problem had emerged. It is not yet known neither pERG nor mfERG could detect any changes to detect ethambutol ocular toxicity before the clinical problem emerged. Methods: This study was a prospective clinical trial with 40 eyes samples and analyzed with paired t and Wilcoxon tests. The ocular examination was conducted using the Snellen chart, HRR Richmond Plates, Pelli Robson, pERG, and mfERG in tuberculosis category 1 patient with 2 months follow-up. Result: Visual acuity, color, and contrast sensitivity were normal in all patients for 2 months follow-up period. In pERG examination, the mean implicit time wave P50 was shortened by -1.27± 4.71 mS (p=0.049), and the mean amplitude wave N95 was reduced by -0.93± 4.49 ?V (p=0.038). Both were statistically significant. In the mfERG examination, we did not find any statistically significant changes in both wave N1 and P1. Conclusion: Changes in pattern ERG presented earlier compared to mfERG after ethambutol therapy for 2 months.

Electronegative electroretinogram in the modern multimodal imaging era.

BackgroundThe electronegative electroretinogram (ERG) reflecting inner retinal dysfunction can assist as a diagnostic tool to determine the anatomical location in eye disease. The aim of this study is to determine the frequency and aetiology of electronegative ERG in a tertiary ophthalmology centre and to develop a clinical algorithm to assist patient management.MethodsRetrospective review of ERGs performed at the Save Sight Institute from January 2011 to December 2020. ERGs were performed according to ISCEV standard. The b:a ratio was analysed in dark adapted (DA) 3.0 or 12.0 recordings. Patients with ratio of ≤1.0 were included.ResultsA total of 4421 patients had ERGs performed during study period, of which 139 patients (3.1%) had electronegative ERG. The electronegative ERG patients' median age at referral time was 37 (0.7–90.6) years. The causative aetiologies were photoreceptor dystrophy (48, 34.5%), Congenital Stationary Night Blindness (CSNB) (33, 23.7%), retinal ischemia (18, 12.9%), retinoschisis (15, 10.8%), paraneoplastic autoimmune retinopathy (PAIR) and nonPAIR (14, 10.1%), batten disease (4, 2.9%), and inflammatory retinopathy (4, 2.9%). There were three patients with an unclassified diagnosis. Thirty‐two patients (23%) had good vision and a normal fundus appearance. Eleven patients (7.9%) had good vision and normal results in all multimodal imaging.ConclusionsThe frequency of electronegative ERG in our referral centre was 3.1% with photoreceptor dystrophy as the main aetiology. A significant number of the cases had good vision with normal fundus or normal multimodal imaging. This further highlights the value of an ERG in this modern multimodal imaging era.

Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients

Purpose: X-linked juvenile retinoschisis (XLRS), caused by mutations in the RS1 gene, is an X-linked recessive inherited disease that typically involves both eyes in the first 2 decades of life. Recently, the phenotype heterogeneity of this condition has drawn increasing attention. We reported various phenotypes caused by RS1 gene mutations in eleven patients from ten Chinese families. Methods: Data on the medical history of the patients from ten Han families of central China were collected. Ophthalmic examinations including best-corrected visual acuity (BCVA), fundus photography, ultra-wide-angle sweep source optical coherence tomography (SS-OCT), and electroretinography (ERG) were performed. Adaptive optics (AO) images were acquired to evaluate the cone photoreceptor mosaic when applicable. Venous blood of the probands and their family members was collected, and DNA was subjected to sequencing based on next-generation sequencing with a custom-designed targeted gene panel PS400 for inherited retinal diseases. Validation was performed by Sanger sequencing and cosegregation. Pathogenicity was determined in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Ten RS1 mutations, including eight missense mutations and two terminator mutations, were identified in 10 XLRS families. c.657C > A (p.C219X) was a novel mutation in this cohort. These patients showed a variety of clinical phenotypes, including fovea schisis, bullous retinoschisis, and macular or peripheral atrophy. Fifteen eyes of eight patients exhibited macular retinoschisis, and twelve eyes of seven patients exhibited peripheral retinoschisis. In addition, three patients showed asymmetrical fundus manifestations. Of importance, three patients without macular retinoschisis were misdiagnosed until genetic testing results were obtained. AO showed a decrease in cone density and loss of regularity in the cystic schisis macular of XLRS. Furthermore, the BCVA was associated with the photoreceptor inner segment and outer segment (IS/OS) thickness. Conclusion: With complicated clinical manifestations, a considerable portion of XLRS patients may present various phenotypes. It should be noted that asymmetry in fundus appearance in both eyes could lead to misdiagnosis easily. Thus, genetic testing is crucial for making a final diagnosis in those patients who are suspected of having amblyopia, bilateral or unilateral macular atrophy, or conditions presenting an asymmetric fundus appearance. In addition, the residual cone photoreceptor structure was critical for the maintenance of useful vision.

Clinical Features of Spontaneous Regression of Retinopathy of Prematurity in China: A 5-Year Retrospective Case Series.

Purpose: The aim of this study is to explore the clinical features of spontaneous regression of retinopathy of prematurity (ROP) in China, including fundus appearance, time course, and affecting factors.Methods: Data of pediatric patients in whom ROP spontaneously regressed without treatment were collected, including general demographics, medical history, zones and stages of ROP, and changes of fundus appearance. The fundus manifestations of spontaneous regression in ROP were systematically summarized. Meanwhile, the time course of spontaneous regression in ROP was further analyzed, including the onset time, completion time, and duration of regression, which were all compared across different ROP zones and stages. The associated factors were analyzed by survival analysis for their correlation with delayed regression for the first time.Results: Two hundred thirty-seven eyes of 237 pediatric patients were included. The fundus manifestations of regression differed across stages. Lesions gradually subsided, and the retinal vessels gradually vascularized completely. However, despite ROP regression, some abnormalities remained. We observed avascular retina in the temporal periphery (19.0%), increased vascular branching (6.8%), retinal pigmentary changes (6.8%), and smaller angle between the upper and lower temporal retinal vessel trunks (3.0%). Acute ROP started to regress at a median 40 weeks of postmenstrual age (PMA) and completely regressed by median 49.0 weeks of PMA. The median duration for regression was 8.5 weeks. The zone II ROP and stage 3 ROP had a later time for onset and completion of regression, and longer duration. Anemia and retinal hemorrhage (RH) were identified as independent risk factors for delayed regression by survival analysis.Conclusions: During spontaneous regression, the fundus appearance is diverse, and the retinal vessels gradually vascularized completely. The time course of regression differs depending on the ROP zone and stage. Anemia and RH are independent risk factors for delayed regression. Further research of the natural course of the regression of ROP is needed to help design effective screening and follow-up plans.

Intereye Symmetry in Bietti Crystalline Dystrophy

To evaluate anatomic and functional intereye symmetry among individuals with Bietti crystalline dystrophy (BCD) using clinical and multimodal imaging methods, with a focus on the number, area, and distribution of the characteristic retinal crystalline deposits. Observational case series with prospective and retrospective data. Setting: Multicenter. Thirteen Australian and New Zealand participants (26 eyes) with confirmed biallelic CYP4V2 mutations and a characteristic BCD fundus appearance. Procedures and main outcome measures: Crystals visible on color fundus photography were manually counted. Crystals were superimposed on aligned multimodal fundus images. Spearman's correlation coefficients (ρ), intraclass correlation coefficients (ICCs), and Bland-Altman plots were used to quantify symmetry between eyes. Fundus crystal area and count, and absent-autofluorescence (absent-AF) area. Median participant age was 48 years (interquartile range: 40-60 years). Intereye symmetry was high for fundus crystal area (ρ=1.00, 95% confidence interval [CI]: 1.00-1.00; ICC=0.97, 95% CI: 0.88-0.99), fundus crystal count (ρ=0.98, 95% CI: 0.92-1.00; ICC=0.97, 95% CI: 0.89-0.99), and absent-AF area (ρ=0.88, 95% CI: 0.53-0.98; ICC=0.98, 95% CI: 0.90-0.99). Average foveal volume, foveal crystal count and area, average and central foveal thickness, best corrected visual acuity, and average macular and central foveal sensitivity were not highly correlated between eyes. This study demonstrated strong intereye symmetry measured by fundus crystal area, fundus crystal number, and absent-AF area. This may influence the choice of outcome measures for future therapeutic trials for BCD and provides valuable clinical information for ophthalmologists involved in the care and counseling of patients with BCD.

Familial exudative vitreoretinopathy presenting as bilateral secondary angle-closure

A 24-year-old man presented with sudden-onset bilateral simultaneous angle closure with intraocular pressure (IOP) of 30 and 52 mm Hg in the right and left eye, respectively. Ultrasound biomicroscopy detected the presence of bilateral supraciliary fluid, whereas fundus appearance was suggestive of familial exudative vitreoretinopathy (FEVR). He was managed with cycloplegics, topical steroids, and anti-glaucoma medications (AGM) followed by cryotherapy to peripheral leaking retinal vessels of both eyes, once IOP was controlled and supraciliary fluid resolved. Any patient with bilateral simultaneous angle closure must alert one to look beyond the diagnosis of primary angle closure and search for secondary causes.

Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice

Combined methylmalonic aciduria with homocystinuria (cblC type) is a rare disease caused by mutations in the MMACHC gene. MMACHC encodes an enzyme crucial for intracellular vitamin B12 metabolism, leading to the accumulation of toxic metabolites e.g. methylmalonic acid (MMA) and homocysteine (Hcy), and secondary disturbances in folate and one-carbon metabolism when not fully functional. Patients with cblC deficiency often present in the neonatal or early childhood period with a severe multisystem pathology, which comprises a broad spectrum of treatment-resistant ophthalmological phenotypes, including retinal degeneration, impaired vision, and vascular changes. To examine the potential function of MMACHC in the retina and how its loss may impact disease, we performed gene expression studies in human and mouse, which showed that local expression of MMACHC in the retina and retinal pigment epithelium is relatively stable over time. To study whether functional MMACHC is required for retinal function and tissue integrity, we generated a transgenic mouse lacking Mmachc expression in cells of the peripheral retina. Characterization of this mouse revealed accumulation of cblC disease related metabolites, including MMA and the folate-dependent purine synthesis intermediates AICA-riboside and SAICA-riboside in the retina. Nevertheless, fundus appearance, morphology, vasculature, and cellular composition of the retina, as well as ocular function, remained normal in mice up to 6 or 12 months of age. Our data indicates that peripheral retinal neurons do not require intrinsic expression of Mmachc for survival and function and questions whether a local MMACHC deficiency is responsible for the retinal phenotypes in patients.

Novel genetic mutations in genes AGBL5 and TULP1 for presumed unilateral retinitis pigmentosa managed with low vision rehabilitation: A case report and review

Background: Retinitis pigmentosa is a group of hereditary retinal diseases characterized by the degeneration of rod and cone photoreceptors. It commonly results in night blindness followed by tunnel vision and central vision reduction. The classic triad of clinical signs includes pigmented bone spicules, waxy disc pallor, and arterial attenuation. Unilateral retinitis pigmentosa is rare and can be supported with ancillary testing including genetic and laboratory studies to rule out differential diagnoses. Case Report: A 68-year-old Hispanic female was referred to the low vision rehabilitation clinic due to progressive vision loss in the left eye (OS) that began 15 years ago. The vision was normal in the right eye (OD). Additionally, she suffered from hearing loss in the right ear since age 3. Examination revealed abnormal visual acuity, visual field, fundus appearance, optical coherence tomography, and electrodiagnostic test results in the OS only. Laboratory studies ruled out various infectious, autoimmune, traumatic, and toxic drug etiologies. Genetic testing revealed novel mutations in genes associated with retinitis pigmentosa. Conclusion: The genetic testing results along with the clinical examination and electrodiagnostic evaluation supports the diagnosis of unilateral retinitis pigmentosa.

Incidence of Infection among Subjects with Helicobacter pylori Seroconversion.

Background/Aims:Helicobacter pylori (H. pylori) seroconversion may occur during screening for gastric cancer. Our study aimed to assess the number of seroconverted subjects with H. pylori and their results in follow-up tests. Methods:Data were consecutively collected on subjects who were H. pylori-seronegative and presented for gastric cancer screening. Subjects who were followed up using the same serology test and pepsinogen (PG) assays on the day of endoscopy were included in the study. Results:During the follow-up of 57.7±21.4 months, 61 (15.0%) of 407 seronegative subjects showed seroconversion. H. pylori infection was detected in six (9.8%) of 61 seroconverted subjects. A diffuse red fundal appearance, with a significant increase in the Kyoto classification scores for gastritis, was observed in the infected subjects (p<0.001). Compared to the false-seropositive subjects, infected subjects showed higher serology titers (p<0.001) and PG II levels (p<0.001) and lower PG I/II ratios (p=0.002), in the follow-up tests. Conclusions:Seroconversion occurred in 3.3% of seronegative subjects per year; however, only 9.8% had H. pylori infection. The majority (90.2%) of the seroconverted subjects showed false seropositivity without significant changes in the follow-up test results. The diffuse red fundal appearance could be an indicator of H. pylori infection.