scholarly journals Bilateral Helicoid Peri-papillary Sub-retinal Fibrosis Due to a Biallelic NR2E3 Mutation: Describing Variable Expressivity of a Single Genetic Mutation

2021 ◽  
Author(s):  
Narges Hassanpoor ◽  
Nazanin Ebrahimiadib ◽  
Hamid Riazi-Esfahani ◽  
Afrooz Moghaddasi ◽  
Fatemeh Suri
Keyword(s):  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Clinical Manifestations ◽  
Genetic Mutation ◽  
Male Child ◽  
Recessive Mutation ◽  
Pathologic Finding ◽  
First Case ◽  
Single Genetic Mutation ◽  
High Hyperopia

Abstract Background: To describe different clinical presentations of NR2E3 (nuclear receptor subfamily 2, group E, member 3; OMIM 604485) recessive mutation in two families and within one family. Design: Interventional family study. Results: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. Parents and the only sibling had no pathologic finding in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In genetic investigation, a homozygous autosomal recessive mutation in NR2E3 gene was discovered in the affected child, while the other family members were heterozygous for this mutation. We followed up the patient for 3 years and no new lesion developed during this time period. The second case was a 13-year-old male child who was referred to retina clinic for decreased vision in the right eye. In retina examination, there were nummular pigmentary changes at the level of retinal pigment epithelium and along the vascular arcades with foveo-schitic changes in both eyes. A choroidal neovascularization (CNV) was noticed in macula of his right eye. Genetic evaluation proved the same mutation in NR2E3 gene. Family history was remarkable for an uncle, an aunt and two cousins with night blindness. In retina examination, asymptomatic father of proband showed to have slight pallor of optic nerve head and arterial narrowing in both eyes. Conclusion: NR2E3 gene mutation can cause heterogeneous clinical manifestations such as slight retinal changes in the absence of any visual symptoms to high hyperopia associated with helicoid peri-papillary sub-retinal fibrosis.

Major Hereditary Gastrointestinal Cancer Syndromes: a Narrative Review

2017 ◽  
Vol 26 (2) ◽  
pp. 157-163 ◽  
Author(s):  
Lakshmi Manogna Chintalacheruvu ◽  
Trudy Shaw ◽  
Avanija Buddam ◽  
Osama Diab ◽  
Thamer Kassim ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Genetic Testing ◽  
Gastrointestinal Cancer ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Clinical Manifestations ◽  
Micro Rna ◽  
Diffuse Gastric Cancer ◽  
Adenomatous Polyposis ◽  
Cancer Syndromes

Gastrointestinal cancer is one of the major causes of death worldwide. Hereditary gastrointestinal cancer syndromes constitute about 5-10% of all cancers. About 20-25% of undiagnosed cases have a possible hereditary component, which is not yet established. In the last few decades, the advance in genomics has led to the discovery of multiple cancer predisposition genes in gastrointestinal cancer. Physicians should be aware of these syndromes to identify high-risk patients and offer genetic testing to prevent cancer death. In this review, we describe clinical manifestations, genetic testing and its challenges, diagnosis and management of the major hereditary gastrointestinal cancer syndromes.Key words:  −  −  −  − .Abbreviations: ACG: American College of Gastroenterology; AFAP: attenuated FAP; APC: adenomatous polyposis coli; CDH1: E-cadherin; CHRPE: congenital hypertrophy of the retinal pigment epithelium; CRC: colorectal cancer; FAMMM: Familial atypical multiple mole melanoma; FAP: Familial adenomatous polyposis; GC: gastric cancer; HDGC: Hereditary diffuse gastric cancer; IHC: immunohistochemical; IPAA: ileal pouch–anal anastomosis; IRA: ileorectal anastomosis; MSI: microsatellite instability; MMR: mismatch repair; miRNA: micro RNA.

scholarly journals Optical Coherence Tomography of Bilateral Nanophthalmos with Macular Folds and High Hyperopia

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Firat Helvacioglu ◽  
Ziya Kapran ◽  
Sadik Sencan ◽  
Murat Uyar ◽  
Ozlem Cam
Keyword(s):  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Anterior Segment ◽  
Optic Coherence Tomography ◽  
Medicine Department ◽  
Surgical Interventions ◽  
School Of Medicine ◽  
Department Of Ophthalmology ◽  
Neurosensory Retina ◽  
High Hyperopia

Importance.There is a conflict about the content of the macular folds in nanophthalmic eyes in the literature. Our study clearly demonstrated that papillomacular folds seen in nanophthalmos or posterior microphthalmos were only composed of neurosensory retina without involvement of retinal pigment epithelium and choroid.Observations.This is a report of two consecutive nanophthalmic patients with macular folds at Maltepe University School of Medicine, Department of Ophthalmology, from January to June 2012. Anterior segment dimensions were near normal. The axial lengths of the eyes were short with markedly shortened posterior segment. A macular fold extending from the center of the fovea towards the optic nerve head was present in all eyes. Optic coherence tomography clearly demonstrated that folds were only composed of neurosensory retina. Binocular visual acuities and refractive errors of the cases were 0.3, 0.2 and +16.00, +15.75 diopters, respectively.Conclusions and Relevance.Our study proposes a surgical option to treat these folds like serous retinal detachments by showing the true content of the folds, although there is not any surgical operation accepted for this condition yet. Further studies dealing with the surgical interventions of these folds should be performed to support this option.

scholarly journals Evaluation of Psychophysiological and Hormonal Changes in Acute and Chronic Forms of Central Serous Chorioretinopathy

2019 ◽  
Vol 4 (4) ◽  
pp. 119-123
Author(s):  
A. A. Shchuko ◽  
S. I. Kolesnikov ◽  
T. N. Iurevа ◽  
A. N. Zlobina
Keyword(s):  
Visual System ◽  
Hormonal Regulation ◽  
Central Serous Chorioretinopathy ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Clinical Manifestations ◽  
Role Playing ◽  
Feedback Mechanism ◽  
Pathological Process ◽  
Hormonal Changes

Aim: to evaluate changes in the parameters of the visual system, psycho-physiological reactions (psychoemotional changes), and hormonal changes in patients with central serous chorioretinopathy and on this basis to develop a conceptual scheme for the activation of pathogenetic mechanisms of the formation of acute and chronic forms of the disease. Material and methods. 40 people with central serous chorioretinopathy and 26 control subjects were examined with the assessment of psychophysiological (psychoemotional) and hormonal changes.Results. The most informative criteria have been identified which determine various forms of the clinical course of central serous chorioretinopathy: the area of damage to the retinal pigment epithelium, psycho-emotional changes (the difficulties of role-playing, dependence on other people in domestic and professional environment, a high degree of reactive and personal anxiety, paranoia and level of distress), violation of the psycho-physiological characteristics of the state of the visual system, changes in hormonal regulation (cortisol, thyroid hormones, dehydroepiandrosterone, melatonin, 17-OH-progesterone, testosterone).Conclusion. The complex of psychophysiological changes that form the basis for the pathogenesis of central serous chorioretinopathy, according to the feedback mechanism, enhances the initial moments of the disease, exacerbates the severity of clinical manifestations and leads to chronicity of the pathological process, causing, thus, the complexity of diagnosis and treatment of central serous chorioretinopathy.

Sjögren Reticular Dystrophy of the Retinal Pigment Epithelium: A Case Report

2003 ◽  
Vol 13 (5) ◽  
pp. 491-495
Author(s):  
M. Rinaldi ◽  
A. Villani ◽  
M. Borrelli ◽  
S. Russo ◽  
L. Cotticelli
Keyword(s):  
Case Report ◽  
Retinal Pigment Epithelium ◽  
Late Onset ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Clinical Manifestations ◽  
Computerized Perimetry ◽  
Fundus Photographs ◽  
First Time

Purpose To describe the clinical manifestations in a patient with Sjögren reticular dystrophy of the retinal pigment epithelium, and the evolution of the disease over a 20-year follow-up period. Case Report A 45-year-old woman with Sjögren reticular dystrophy of the retinal pigment epithelium was seen for the first time in 1983; the patient underwent 20 years of annual check-ups. Results Over the follow-up period, fundus photographs, computerized perimetry, electroretinogram, and electro-oculogram findings had either normal or slightly subnormal outcome. Conclusions The results confirm that this disease involves only the retinal pigment epithelium and should not be considered a central tapeto-retinal degeneration or late onset retinopathy.

Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy

2017 ◽  
Vol 27 (6) ◽  
pp. e179-e183 ◽  
Author(s):  
Elena Piozzi ◽  
Salvatore Alessi ◽  
Silvia Santambrogio ◽  
Giovanni Cillino ◽  
Marco Mazza ◽  
...  
Keyword(s):  
Carbonic Anhydrase ◽  
Macular Edema ◽  
Cystoid Macular Edema ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Carbonic Anhydrase Inhibitor ◽  
Gyrate Atrophy ◽  
First Case ◽  
Membrane Bound ◽  
Inflammatory Drugs

Purpose Gyrate atrophy of the choroid and retina (GACR) is a rare chorioretinal dystrophy characterized by a deficiency of the enzyme ornithine aminotransferase, inherited in an autosomal recessive pattern. Case Report We report a case of a 17-year-old girl with GACR, for whom the level of serum ornithine had been reduced by an arginine-restricted diet. The patient was responsive to an association of topical nonsteroidal anti-inflammatory drugs (NSAIDs) and a carbonic anhydrase inhibitor (CAI) to reduce cystoid macular edema (CME). Conclusions The efficacy of topical NSAIDs and systemic CAI association indicates that the imbalance in the distribution of retinal pigment epithelium membrane-bound carbonic anhydrase could play a major role in CME pathogenesis in GACR. To our knowledge, this is the first case of therapy with CAI treatment for GACR-related CME.

scholarly journals Choroidal Neovascularization Induced by Immunogenic Alteration of the Retinal Pigment Epithelium in Dengue Fever

2015 ◽  
Vol 6 (1) ◽  
pp. 18-23 ◽  
Author(s):  
Carlos Eduardo Veloso ◽  
Ursula Schmidt-Erfurth ◽  
Márcio B. Nehemy
Keyword(s):  
Retinal Pigment Epithelium ◽  
Dengue Fever ◽  
Choroidal Neovascularization ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Positive Serology ◽  
Intravitreal Ranibizumab ◽  
Blurred Vision ◽  
Adequate Treatment ◽  
First Case

Purpose: To report the first case of choroidal neovascularization (CNV) secondary to dengue fever. Case Report: A 54-year-old female was referred to our department with blurred vision and metamorphopsia in her left eye. Two weeks earlier, she had presented all of the classic symptoms of dengue fever including a positive serology. Her best-corrected visual acuity (BCVA) was 20/150 in the left eye. She underwent a fundus examination, fluorescein angiography (FA) and spectral domain optical coherence tomography. Results: All findings were consistent with CNV secondary to dengue fever. FA revealed a classic CNV associated with focal retinal pigment epithelium (RPE) destruction and detachment. Three consecutive monthly injections of intravitreal ranibizumab resulted in functional and anatomical improvement for as long as 6 months with a BCVA of 20/25. However, CNV recurred 2 years later, again with an improvement after ranibizumab therapy, but with persistence of a fibrovascular RPE detachment, highlighting the pathomechanism of a classic CNV formation. Conclusions: Maculopathy in dengue fever may be followed by CNV as a result of the immunologic alteration of the RPE. Physicians should be aware of this manifestation to be able to initiate adequate treatment with excellent functional and anatomical results.

scholarly journals Importance of Autoimmune Responses in Progression of Retinal Degeneration Initiated by Gene Mutations

2021 ◽  
Vol 8 ◽  
Author(s):  
Grazyna Adamus
Keyword(s):  
Retinal Degeneration ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Gene Mutations ◽  
Retinal Disease ◽  
Photoreceptor Cells ◽  
Site Effect ◽  
Gene Replacement ◽  
Genetic Mutation ◽  
Contributory Factor

Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous rare disorders associated with retinal dysfunction and death of retinal photoreceptor cells, leading to blindness. Among the most frequent and severe forms of those retinopathies is retinitis pigmentosa (RP) that affects 1:4,000 individuals worldwide. The genes that have been implicated in RP are associated with the proteins present in photoreceptor cells or retinal pigment epithelium (RPE). Asymmetric presentation or sudden progression in retinal disease suggests that a gene mutation alone might not be responsible for retinal degeneration. Immune responses could directly target the retina or be site effect of immunity as a bystander deterioration. Autoantibodies against retinal autoantigens have been found in RP, which led to a hypothesis that autoimmunity could be responsible for the progression of photoreceptor cell death initiated by a genetic mutation. The other contributory factor to retinal degeneration is inflammation that activates the innate immune mechanisms, such as complement. If autoimmune responses contribute to the progression of retinopathy, this could have an implication on treatment, such as gene replacement therapy. In this review, we provide a perspective on the current role of autoimmunity/immunity in RP pathophysiology.

scholarly journals Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Qingqing Zhao ◽  
Yang Kong ◽  
Alec Kittredge ◽  
Yao Li ◽  
Yin Shen ◽  
...  
Keyword(s):  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Genetic Mutation ◽  
Dominant Negative ◽  
Loss Of Function ◽  
Gain Of Function ◽  
Rpe Cells ◽  
Degenerative Disorders ◽  
Universal Treatment ◽  
Human Rpe Cells

Genetic mutation of the human BEST1 gene, which encodes a Ca2+-activated Cl- channel (BEST1) predominantly expressed in retinal pigment epithelium (RPE), causes a spectrum of retinal degenerative disorders commonly known as bestrophinopathies. Previously, we showed that BEST1 plays an indispensable role in generating Ca2+-dependent Cl- currents in human RPE cells, and the deficiency of BEST1 function in patient-derived RPE is rescuable by gene augmentation (Li et al., 2017). Here, we report that BEST1 patient-derived loss-of-function and gain-of-function mutations require different mutant to wild-type (WT) molecule ratios for phenotypic manifestation, underlying their distinct epigenetic requirements in bestrophinopathy development, and suggesting that some of the previously classified autosomal dominant mutations actually behave in a dominant-negative manner. Importantly, the strong dominant effect of BEST1 gain-of-function mutations prohibits the restoration of BEST1-dependent Cl- currents in RPE cells by gene augmentation, in contrast to the efficient rescue of loss-of-function mutations via the same approach. Moreover, we demonstrate that gain-of-function mutations are rescuable by a combination of gene augmentation with CRISPR/Cas9-mediated knockdown of endogenous BEST1 expression, providing a universal treatment strategy for all bestrophinopathy patients regardless of their mutation types.

scholarly journals Proposing a Neurotropic Etiology for Acute Posterior Multifocal Placoid Pigment Epitheliopathy and Relentless Placoid Chorioretinitis

2022 ◽  
Vol 1 ◽  
Author(s):  
Paul J. Steptoe ◽  
Ian Pearce ◽  
Nicholas A.V. Beare ◽  
Sreekanth Sreekantam ◽  
Bashar R. Mohammed ◽  
...  
Keyword(s):  
Pigment Epithelium ◽  
Outer Nuclear Layer ◽  
Retinal Pigment ◽  
Clinical Manifestations ◽  
Case Series ◽  
Infection Model ◽  
Fiber Layer ◽  
Axoplasmic Flow ◽  
Axonal Spheroids ◽  
Relentless Placoid Chorioretinitis

PurposeTo reassess the underlying pathophysiology of acute posterior multifocal placoid pigment epitheliopathy (APMPPE) and relentless placoid chorioretinitis (RPC) through comparison with the non-inoculated eye of the von Szily animal model of neurotropic viral retinal infection.MethodsNarrative review.ResultsLiterature reports of isolated neurotropic viral entities and rising serological viral titers in APMPPE after presentation support a potential direct infective etiology. In general, viral transport along axons results in mitochondrial stasis and disruption of axoplasmic flow. Clinical manifestations of axoplasmic flow disruption in APMPPE/RPC may signify the passage of virus along the neuronal pathway. From a case series of 11 patients, we demonstrate a timely, spatial, and proportional association of optic disc swelling with APMPPE lesion occurrence. Signs within the inner retina appear to precede outer retinal lesions; and acute areas of outer nuclear layer (ONL) hyperreflectivity appear to be the result of coalescence of multiple hyperreflective foci resembling axonal spheroids (which occur as a consequence of axoplasmic disruption) and follow the Henle fiber layer neurons. Underlying areas of retinal pigment epithelium (RPE) hyper-autofluorescence follow ONL hyperreflectivity and may signify localized infection. Areas of apparent choriocapillaris hypoperfusion mirror areas of RPE/Bruch’s membrane separation and appear secondary to tractional forces above. Increases in choroidal thickness with lesion occurrence and focal areas of choriocapillaris hypoperfusion are observed in both APMPPE/RPC and the von Szily model.ConclusionsThe neurotrophic infection model provides significant advantages over the existing primary choriocapillaris ischemia hypothesis to account for the range of imaging signs observed in APMPPE and RPC.

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