AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation ScienceHealth Care
Retinal DystrophiesMuscular DystrophiesRetinal DegenerationGastric FundusMyotonic DystrophyLeber Congenital AmaurosisMuscular Dystrophy, DuchenneRetinitis PigmentosaElectroretinographyCorneal Dystrophies, Hereditarycis-trans-IsomerasesMuscular Dystrophy, AnimalEye ProteinsRetinal DiseasesFundus OculiPedigreeFluorescein AngiographyRetinaConsanguinityFuchs' Endothelial DystrophyGenes, RecessiveEye Diseases, HereditaryLaurence-Moon SyndromePhotoreceptor Cells, VertebratePeripherinsBlindnessVisual AcuityMuscular Dystrophy, FacioscapulohumeralPigment Epithelium of EyeOphthalmoscopyNight BlindnessDystrophinMutationDNA Mutational AnalysisMacular DegenerationRetinal Pigment EpitheliumDark AdaptationBardet-Biedl SyndromeMicrophthalmosPhotoreceptor CellsLipofuscinPhotographyTomography, Optical CoherenceChoroid DiseasesAlstrom SyndromeGenes, DominantOptic Disk DrusenPhenotypeRetinal Rod Photoreceptor CellsMuscular Dystrophy, Emery-DreifussRetinal Cone Photoreceptor CellsMice, Inbred mdxUsher SyndromesSyndromeOptic Atrophy, Hereditary, LeberMutation, MissenseVisual FieldsVisual Field TestsNeuroaxonal DystrophiesCodon, NonsenseOptic Atrophies, HereditaryExonsOphthalmoscopesSarcoglycansKidney Diseases, CysticRats, Mutant StrainsVision DisordersVitelliform Macular DystrophyRhodopsinHeteroduplex AnalysisGenetic LinkageAge of OnsetExomeChromosome MappingMolecular Sequence DataHeterozygoteMuscular Dystrophy, OculopharyngealHomozygotePolymorphism, Single-Stranded ConformationalDystroglycansReflex Sympathetic DystrophyLod ScoreAbnormalities, MultipleUtrophinFrameshift MutationNerve Tissue ProteinsFluorescenceHaplotypesMuscle, SkeletalIntermediate Filament ProteinsBase SequenceIntellectual DisabilityDiagnostic Techniques, OphthalmologicalCarrier ProteinsGenetic TestingRod OpsinsATP-Binding Cassette TransportersRetinal DrusenMembrane ProteinsGenotype
Optical coherenceAutofluorescenceDegenerationRetinaRetinitisVisual acuityAutosomalAtrophyGeneDiseasesPigmentaryProgressive retinalClinicalGeneticOnsetPatientsBranch retinal artery occlusionPhenotypesDetachment dueGenesSevereOcularVitelliformChoroidal nevusDisordersAbnormalitiesPhenotypicMaculopathyFlecksAttenuationOcclusionExaminationLesionsVasculatureDiagnosisAlbipunctatusBlindnessCone
Optical coherence11
  • The aim was to determine the precise localisation of these flecks within the retinal layers using Stratus optical coherence tomography (OCT). (bmj.com)
  • The diagnosis of CRD is based on clinical history, fundus examination, autofluorescence imaging, optical coherence tomography and full field electroretinogram. (orpha.net)
  • Diagnostic findings such as non-recordable electroretinograms (ERGs) and specific optical coherence tomography (OCT) or fundus autofluorescence (FAF) findings add to the phenotypic-genotypic correlations ( Table 1 ). (aao.org)
  • Optical coherence tomography identified disrupted retinal lamination, outer-retinal debris, and an unidentifiable photoreceptor layer in two cases. (rphope.org)
  • Both underwent a complete ophthalmologic examination including visual acuity assessment, optical coherence tomography, intravenous fluorescein angiography, and fundus autofluorescence. (bvsalud.org)
  • METHODS: Data were gathered by reviewing medical records for medical history, symptoms, best-corrected visual acuity (BCVA), ophthalmoscopy, visual fields, full-field electroretinography and retinal imaging (fundus photography, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence). (knaw.nl)
  • Then we have a host of tools that we can use, optical coherence tomography (OCT), widefield imaging and fundus autofluorescence, my favorite mode ever," shared Assoc. Prof. Vincent. (piemagazine.org)
  • Methods: The retinal phenotype of 10 patients with CDHR1-related retinopathy was characterized by multimodal imaging including color fundus photography, optical coherence tomography (OCT), and blue- and near-infrared fundus autofluorescence imaging. (ox.ac.uk)
  • Testing should include visual acuity, dilated fundus photography, and optical coherence tomography. (drugs.com)
  • All patients showed a common phenotype of fundus autofluorescence abnormalities, and spectral-domain optical coherence tomography features were similar in all patients with schitic and cystoid changes. (ox.ac.uk)
  • Optical coherence tomography (OCT) revealed focal elevation or thickening of the retinal pigment epithelium with ellipsoid-zone changes. (vitbucklesociety.org)
Autofluorescence9
  • B . Corresponding fundus autofluorescence picture demonstrating peripheral hypopigmented spots and a ring of hyperfluorescence surrounding the fovea. (aao.org)
  • FAF imaging showed a characteristic abnormality with absence of the normal fundus autofluorescence. (arvojournals.org)
  • The emergence of a characteristic phenotype, with an absence of fundus autofluorescence being a useful screening tool, is important for the identification of such patients. (arvojournals.org)
  • All demonstrated reduced fundus autofluorescence. (rphope.org)
  • Bilateral fundus photography and fundus autofluorescence imaging of a 62-year-old male with Retinitis Pigmentosa. (asrs.org)
  • METHODS: Medical records were reviewed for medical history, best-corrected visual acuity (BCVA), ophthalmoscopy, visual fields, full-field electroretinography, and retinal imaging (fundus photography, spectral-domain OCT [SD-OCT], fundus autofluorescence). (eyehospital.nl)
  • Fig. 1: Colored fundus (CF) and fundus autofluorescence (FAF) photographs of patients with CHM at different stages. (nature.com)
  • Pathologic findings were more notable on fundus autofluorescence imaging (FAF) with densely packed hyperautofluorescent and hypoautofluorescent spots being most typical. (vitbucklesociety.org)
  • Deep Learning-Based Classification of Inherited Retinal Diseases Using Fundus Autofluorescence. (cdc.gov)
Degeneration8
  • A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. (orpha.net)
  • While much of the clinical efforts have been directed at imaging the photoreceptors, the ability to resolve other features of the retina is likely to be useful in studying diseases such as glaucoma (lamina cribrosa, nerve fiber layer, ganglion cells), age-related macular degeneration (retinal pigment epithelium [RPE]), and diabetic retinopathy (retinal vasculature). (touchophthalmology.com)
  • In contrast, biallelic severe/truncating CDHR1 mutations result in retina-wide retinal degeneration in addition to macular atrophy, with overall severely reduced retinal function. (ox.ac.uk)
  • As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration. (upenn.edu)
  • The most common referring diagnoses were pattern dystrophy and macular degeneration. (vitbucklesociety.org)
  • 16. Any pre-existing chorioretinal scar or retinal degeneration and other significant retinal pathologies (foveomacular schisis, dystrophies, arterial macroaneurysms etc) involving the macula. (who.int)
  • Clinical Observation and Genotype-Phenotype analysis of ABCA4- related Hereditary retinal degeneration before Gene Therapy. (cdc.gov)
  • Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A). (cdc.gov)
Retina13
  • Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). (medlineplus.gov)
  • Although autopsy studies have documented histological and ultrastructural changes associated with AMD in the retina, retinal pigment epithelium (RPE), choriorcapillaris and choroid in middle age, the disease typically does not manifest clinically before age 55 (10). (org.es)
  • This is especially important for monitoring of retinal diseases that initially spare the central retina in earlier disease stages. (ox.ac.uk)
  • The ocular fundus is the back of the eye opposite the pupil and includes the retina, the membrane (the choroid) between the retina and the white of the eye, and the optic disk. (merckvetmanual.com)
  • An abnormal development of the retina called retinal dysplasia is present at birth and may arise from trauma, genetic defect, or damage occurring while in the womb. (merckvetmanual.com)
  • In the 125 years since then, clinicians and researchers alike have relied on the continued development of new and improved ways to visualize the fundus to provide better in vivo views of the normal and diseased retina. (touchophthalmology.com)
  • The ERG is a test used worldwide to assess the status of the retina in eye diseases in human patients and in laboratory animals used as models of retinal disease. (org.es)
  • Over 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. (upenn.edu)
  • Retinal tears put us at great risk of developing a retinal detachment, which is a separation of the retina from the wall of the eye. (gbretina.com)
  • Central or branch retinal artery occlusions are essentially small 'strokes' which can happen in the retina that can affect our central and/or peripheral vision. (gbretina.com)
  • Retinal dystrophies are genetic diseases affecting the retina, retinal pigment epithelium and choroid that can affect visual acuity. (gbretina.com)
  • Amaç: Deney hayvanlarında oluşturulan akut retinal iskemi modelinde, NMDA reseptör antagonisti olan Memantinin infüzyon yoluyla verilmesinden sonra retina gangliyon hücrelerindeki nöroprotektif etkilerinin değerlendirilmesi ve hiperbarik oksijen tedavisi ile karşılaştırılması amaçlandı. (yeditepe.edu.tr)
  • Retinal Detachment Retinal detachment is separation of the neurosensory retina from the underlying retinal pigment epithelium. (msdmanuals.com)
Retinitis9
  • Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. (medlineplus.gov)
  • Cone-rod dystrophy (CRD) should be distinguished from rod-cone dystrophy (RCD), also known as retinitis pigmentosa. (orpha.net)
  • Leber congenital amaurosis (LCA) is the second most common group of inherited retinal dystrophies after retinitis pigmentosa, accounting for about 5% of all retinal dystrophies. (aao.org)
  • Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, and retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features such as coat's like vasculopathy in retinitis pigmentosa patients. (biomedcentral.com)
  • CRB1 gene mutations are associated with remarkable retinal findings in patients with retinitis pigmentosa and other fundus dystrophies. (biomedcentral.com)
  • Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. (nih.gov)
  • Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. (asperbio.com)
  • Assoc. Prof. Penny Allen, vitreoretinal surgeon and head of the Vitreoretinal Unit at The Royal Victorian Eye and Ear Hospital in Australia, provided updates on a futuristic bionic eye that can partially restore sight loss due to retinitis pigmentosa (RP), an umbrella term for many inherited retinal diseases. (piemagazine.org)
  • Conclusions and Relevance: These findings support the notion that ARB, BVMD, and adult-onset vitelliform macular dystrophy are clinically distinct and recognizable phenotypes and suggest that the association of autosomal recessive retinitis pigmentosa with sequence variations in BEST1 should be rereviewed. (ox.ac.uk)
Visual acuity6
  • Cone rod dystrophy (CRD) is characterized by primary cone involvement or, occasionally, by concomitant loss of both cones and rods, explaining the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central visual field, later followed by progressive loss in peripheral vision and night blindness. (orpha.net)
  • The phenotypes had already been evaluated with electrophysiology and other clinical tests, e.g., visual acuity, Goldmann perimetry, and fundus imaging at the first visit, sometime between 1988-2015 and the previous-in many cases, multiple-genetic testing, performed between 1995 and 2020 had been inconclusive. (lu.se)
  • In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over loss of the visual field. (asperbio.com)
  • Some patients with retinal abnormalities have been found to have abnormal visual acuity. (drugs.com)
  • POTIGA is a potassium channel opener indicated as adjunctive treatment of partial-onset seizures in patients aged 18 years and older who have responded inadequately to several alternative treatments and for whom the benefits outweigh the risk of retinal abnormalities and potential decline in visual acuity. (drugs.com)
  • Ocular examination involves assessment of visual acuity and pupillary reaction, as well as anterior segment, retinal, and funduscopic evaluation. (medscape.com)
Autosomal7
  • To date, 256 genes listed in RetNet have been associated with syndromic and non-syndromic retinal dystrophies, which can be inherited as an autosomal-recessive, autosomal-dominant, or X-linked trait ( RetNet ). (molvis.org)
  • Purpose: To report novel variants and characterize the phenotype associated with the autosomal recessive retinal dystrophy caused by mutations in the lecithin retinol acyltransferase ( LRAT ) gene. (rphope.org)
  • A CDHR1 mutations demonstrate a retinal phenotype consistent with autosomal recessive CACD. (ox.ac.uk)
  • Mutations in the same gene have also been found in a simpler autosomal dominant disease known as Retinal Arteriolar Tortuosity ( 180000 ). (arizona.edu)
  • Plaisier E, Alamowitch S, Gribouval O, Mougenot B, Gaudric A, Antignac C, Roullet E, Ronco P. Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome . (arizona.edu)
  • Three distinct clinical phenotypes were identified: autosomal recessive bestrophinopathy (ARB), best vitelliform macular dystrophy (BVMD), and adult-onset vitelliform macular dystrophy. (ox.ac.uk)
  • Best disease, also termed vitelliform macular dystrophy, is typically an autosomal dominant disorder, which classically presents in childhood with the striking appearance of a yellow or orange yolklike lesion in the macula. (medscape.com)
Atrophy7
  • The fundus appearance is varaible ranging from normal in the early stages, with only subtle temporal optic nerve pallor, macular pigment migration and atrophy or a bull's-eye maculopathy, to peripheral retinal pigment epithelium atrophy, intra retinal pigmentation migration, arteriolar attenuation, and optic disc pallor as disease progresses. (orpha.net)
  • Fundus examination can be normal at the early stages with only subtle temporal optic disc pallor or may show macular pigment migrations and atrophy or a bull's-eye maculopathy. (orpha.net)
  • Late stage findings include peripheral retinal pigment epithelium atrophy, intraretinal pigment migration, arteriolar attenuation, and optic disc pallor. (orpha.net)
  • Fundus findings ranged from a normal appearance to white dots at the level of the RPE or a retinal atrophy with vessel attenuation which was seen at a later stage. (arvojournals.org)
  • Funduscopy revealed severe retinal pigment epithelial atrophy and minimal retinal pigmentation. (rphope.org)
  • Later, in most patients, a large variety of retinal changes appear, including salt-and-pepper pigmentation, attenuated vessels, and atrophy of the retinal pigment epithelium (RPE). (asperbio.com)
  • Retinal function outside an area of slowly progressive macular atrophy remained relatively preserved. (ox.ac.uk)
Gene18
  • Fundus albipunctatus is primarily caused by mutations in the RDH5 gene. (medlineplus.gov)
  • RDH5 gene mutations are thought to reduce or eliminate the function of the 11-cis retinol dehydrogenase 5 enzyme, which results in a shortage of 11-cis retinal. (medlineplus.gov)
  • Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (medlineplus.gov)
  • Initial genetic analysis was performed on one family member with traditional Sanger single gene sequencing and/or panel-based testing, and ultimately, retinal gene-targeted NGS was required to identify the underlying cause of disease for individuals within the three families. (molvis.org)
  • Retinal gene-targeted NGS in the fourth affected family member revealed compound heterozygous mutations in USH2A (p. (molvis.org)
  • Multiple genes contributing to the retinal dystrophy genotypes within a family were discovered using retinal gene-targeted NGS. (molvis.org)
  • To determine whether a mutation in the RP1-like protein 1 ( RP1L1 ) gene is present in a Japanese patient with sporadic occult macular dystrophy (OMD) and to examine the characteristics of focal macular electroretinograms (ERGs) of the patient with genetically identified OMD. (molvis.org)
  • In the present era of evolving gene-based therapies for inherited retinal dystrophies (IRDs), it has become increasingly important to verify the genotype in every case, to identify all subjects eligible for treatment. (lu.se)
  • To refine the genotype-phenotype correlation in a subset of patients with Leber's Congenital Amaurosis (LCA) or early onset retinal dystrophies (EORD) who have RPE65 gene defects. (arvojournals.org)
  • Macular dystrophy that is related to a change in a gene. (nih.gov)
  • Phenotypic similarities to the retinal dysfunction associated with RPE-specific protein 65 kDa mutations, another visual cycle gene, suggest that LRAT deficiency may show a good response to novel therapies. (rphope.org)
  • OBJECTIVE: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene, and to identify potential clinical endpoints and optimal patient selection for future therapeutic trials. (knaw.nl)
  • From Bionic Eye to Gene Therapy: Is futuristic technology the way forward in the fight against retinal dystrophy? (piemagazine.org)
  • The treatments are very expensive, and they're limited to a relatively small number of our patients at this stage," said Dr. Thomas Edwards, vitreoretinal surgeon and head of Retinal Gene Therapy Research at the Centre for Eye Research Australia, who presented the potential of gene therapy for inherited retinal disease. (piemagazine.org)
  • Choroideremia (CHM) is an X-linked chorioretinal dystrophy caused by variants in the CHM gene. (nature.com)
  • Heterozygous mutations in the COL4A1 gene (13q34) have been identified in families with simple retinal arteriolar tortuosity. (arizona.edu)
  • Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review. (cdc.gov)
  • Gene therapy for inherited retinal diseases: progress and possibilities. (cdc.gov)
Diseases9
Pigmentary2
  • A retinal dystrophy belonging to the group of pigmentary retinopathies. (nih.gov)
  • If retinal pigmentary abnormalities or vision changes are detected, POTIGA should be discontinued unless no other suitable treatment options are available and the benefits of treatment outweigh the potential risk of vision loss. (drugs.com)
Progressive retinal2
  • LRAT mutations cause a severe, early childhood onset, progressive retinal dystrophy. (rphope.org)
  • She thinks that a similar problem occurs in AMD and SFD, with incorrect delivery of TIMP-3 and other proteins leading to drusen formation and progressive retinal damage. (macularsociety.org)
Clinical9
  • The clinical features of LCA patients usually include roving eye movements/nystagmus, digito-ocular signs (eye poking or rubbing), an apparently normal or salt-and-pepper pigmented fundus and severely reduced or absent scotopic and photopic electroretinogram (ERG), Although it is an early-onset and severe disease, LCA has a variable expression, which may reflect, at least in part, its high genetic heterogeneity [ 3 ]. (biomedcentral.com)
  • Fundus-controlled perimetry (microperimetry): Application as outcome measure in clinical trials. (ox.ac.uk)
  • Fundus-controlled perimetry (FCP, also called 'microperimetry') allows for spatially-resolved mapping of visual sensitivity and measurement of fixation stability, both in clinical practice as well as research. (ox.ac.uk)
  • 22 Jan 2018 Enhanced depth imaging (EDI)-OCT of choroidal nevus shows smooth-surface topography, chronic overlying retinal pigment epithelium (RPE) 3 May 2019 Small pigmented choroidal lesions may be choroidal nevus or choroidal surface features (orange pigmentation, drusen, and retinal pigment 27 May 2016 Clinical and ultrasound findings suggest a choroidal nevus that has remained stable over a decade of Pigmented lesion next to optic disc. (firebaseapp.com)
  • According to Assoc. Prof. Andrea Vincent from the University of Auckland, New Zealand, clinical phenotyping in inherited retinal disease can be used to guide clinicians in making a genetic diagnosis. (piemagazine.org)
  • Electrophysiological testing of patients with retinal disease began in clinical departments in the late nineteen forties. (org.es)
  • The disease shares a number of clinical and pathologic similarities with Best macular dystrophy (BMD), and cmr is proposed as a new large animal model for Best disease. (upenn.edu)
  • Importance: Detailed phenotypic information on the spectrum of fundus abnormalities and clinical variability of all phenotypes associated with sequence variations in BEST1 is limited. (ox.ac.uk)
  • By contrast, the diagnosis for cone dystrophies is aided in part by clinical findings but more definitively by the ERG. (medscape.com)
Genetic5
  • In 1949, he and Mary E. Joll Mason published the first description of a rare genetic retinal dystrophy now known as Sorsby's fundus dystrophy. (wikipedia.org)
  • The diagnosis of Leber congenital amaurosis was suggested, and a genetic CRB1 sequencing for the patient and her two younger siblings, who also had severe vision loss, was done, upon which the diagnosis of Leber congenital amaurosis associated with exudative retinal detachment due to coat's like vasculopathy was made. (biomedcentral.com)
  • Keeps you up to date with the latest advances in the treatment of glaucoma, the use of biological agents in the treatment of uveitis, genetic advances in hereditary retinal dystrophies, anti-VEGF agents for macular disease, and OCT/OCTA imaging. (berri.es)
  • RP including rod dystrophies and rod-cone dystrophies are often monogenetic conditions in which change in one genetic locus is the cause of the retinal pathology. (medscape.com)
  • Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy. (cdc.gov)
Onset5
  • For example, patients with mutations in CRB1 , LRAT , CEP290, or RPE65 may have VA better than 20/50 and may actually be diagnosed later in early childhood, and sometimes designated as having early-onset childhood retinal dystrophy or early-onset severe childhood retinal dystrophy, rather than LCA. (aao.org)
  • Methods: A total of 149 patients with Leber's congenital amaurosis (LCA) or early onset retinal dystrophy were screened for mutations in LCA-associated genes using an arrayed-primer extension (APEX) genotyping microarray (Asper Ophthalmics). (rphope.org)
  • Leber congenital amaurosis (LCA) is an early-onset and severe retinal dystrophy leading to congenital blindness. (asperbio.com)
  • In the adult-onset vitelliform macular dystrophy phenotype group, the age in years at symptom onset varied from 50s to 70s in 2 patients from 2 families. (ox.ac.uk)
  • Adult vitelliform macular dystrophy resembles Best disease, but it can be differentiated by its later age of onset, smaller lesion, and normal electro-oculogram testing. (medscape.com)
Patients11
  • There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
  • Improved intra- and inter-session retest-variability through fundus-tracking and precise point-wise follow-up examinations even in patients with unstable fixation represent key advantages of these technique. (ox.ac.uk)
  • Patients at different disease stages showed different extents of retinal pigment epithelium (RPE) and choroid abnormalities. (nature.com)
  • Central retinal OCT scanning can identify different abnormalities in the retinal structures, and these might be used as other parameters for monitoring disease progression in patients with CHM. (nature.com)
  • Fig. 3: Central retinal OCT images of patients with CHM at the different stages. (nature.com)
  • However, examination of the retinal vasculature can identify a set of patients in which the arterioles are strikingly tortuous. (arizona.edu)
  • A phenotype of a beaten metallic retinal appearance extending from the mid periphery to the far periphery was identified in 8 patients. (ox.ac.uk)
  • Expert reviewers assessed retinal imaging available for patients exposed to PPS. (vitbucklesociety.org)
  • Patients with fundus albipunctatus have poor dark adaptation but may have normal results after 3-4 hours of adaptation. (medscape.com)
  • Molecular Genetics of Inherited Retinal Degenerations in Icelandic patients. (cdc.gov)
  • RÉSUMÉ Nous avons évalué les causes des déficiences visuelles et de la cécité chez 694 patients diabétiques ayant consulté dans notre centre des soins oculaires à Sanaa (Yémen) entre 2001 et 2005 en examinant leur dossier médical. (who.int)
Branch retinal artery occlusion1
  • 31. What should be done emergently in the presence of an acute central retinal artery or branch retinal artery occlusion? (stanford.edu)
Phenotypes1
  • A wide range of retinal dystrophy phenotypes are seen in association with ABCA4 mutations. (ox.ac.uk)
Detachment due2
  • A retinal detachment due to a retinal tear is surgical problem that is often reparable by either scleral buckling or vitrectomy surgery. (gbretina.com)
  • In our case, photodynamic therapy has been successful in treating serous retinal detachment due to symptomatic choroidal hemangioma associated with Sturge-Weber syndrome. (yeditepe.edu.tr)
Genes3
  • In rare cases, fundus albipunctatus is caused by mutations in other genes that play roles in the visual cycle. (medlineplus.gov)
  • 1 n.p.) identified three retinal dystrophy genes ( PRPH2 , PRPF8 , and USH2A ) with disease-causing mutations in varying combinations among the affected family members. (molvis.org)
  • A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies. (cdc.gov)
Severe4
  • MIM# 204000) is the earliest and most severe form of all hereditary retinal dystrophies, responsible for congenital blindness [ 1 ]. (biomedcentral.com)
  • In severe cases this disorder may progress to total retinal detachment and visual loss in the context of longstanding RP [ 5 ]. (biomedcentral.com)
  • LCA/EOSRD form part of a spectrum of inherited retinal dystrophies (IRDs) that cause severe visual loss at an early age. (gene.vision)
  • 2. Severe retinal nerve fiber layer thinning of the optic nerve in the superior and inferior quadrant analysis by OCT with a corresponding visual field defect in the superior and inferior hemifield, and/or visual field loss within 5 degrees of fixation in at least one hemifield. (who.int)
Ocular1
  • Also said would rule out ocular causes like retinal detachment. (mrcophth.com)
Vitelliform2
Choroidal nevus2
  • 1 Sep 2011 These cells, along with the retinal pigment epithelium (RPE) cells, Fundus photograph of a benign gray choroidal nevus in the inferior arcade tive treatment of a likely central retinal the retinal pigment epithelium (RPE). (firebaseapp.com)
  • fundus image of choroidal nevus showing a well-demarcated melanocytic nevus 28 Oct 2019 The main dermoscopic features seen in both congenital and acquired melanocytic nevi are pigment network, aggregated globules, and diffuse The disease is characterized by pigment accumulation along the distribution of retinal veins. (firebaseapp.com)
Disorders4
  • Differential diagnosis includes other hereditary cone disorders (including achromatopsia and allied cone dysfunction syndromes, cone dystrophy and Stargardt disease) and the rod-cone dystrophy, also known asretinitis pigmentosa, which is distinguished by the sequence of photoreceptor involvement (rod photoreceptors followed by cone photoreceptors). (orpha.net)
  • In a special session yesterday at the RANZCO 52nd Annual Scientific Congress, experts shared tips on how to diagnose and treat this group of degenerative and hereditary retinal disorders. (piemagazine.org)
  • These courses are aimed to help the participants understand the basic principles, newer investigative modalities, latest guidelines and approach to treatment of various vitreo-retinal disorders. (docmode.org)
  • Purpose: Mutations in bestrophin 1 (BEST1) are associated with a group of retinal disorders known as bestrophinopathies in man and canine multifocal retinopathies (cmr) in the dog. (upenn.edu)
Abnormalities4
  • Viral infections of the mother (for example, herpesvirus in dogs), especially during early fetal development, can result in many eye abnormalities with retinal dysplasia in puppies. (merckvetmanual.com)
  • Retinal dystrophies (RDs) are the leading cause of hereditary blindness with the following common presentations: color blindness or night blindness, peripheral vision abnormalities, and subsequent progression to complete blindness in progressive conditions. (piemagazine.org)
  • POTIGA can cause retinal abnormalities with funduscopic features similar to those seen in retinal pigment dystrophies, which are known to result in damage to the photoreceptors and vision loss. (drugs.com)
  • Abnormalities in the eye result from a disorder in the retinal pigment epithelium (RPE). (medscape.com)
Phenotypic1
  • Interestingly, there are phenotypic-genotypic correlations characteristic of some fundus changes. (aao.org)
Maculopathy3
  • Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy. (nih.gov)
  • Laser-Induced Maculopathy Masquerading as Hereditary Macular Dystrophy. (nih.gov)
  • PPS-associated maculopathy is a newly discovered retinal drug toxicity. (vitbucklesociety.org)
Flecks4
  • Researchers speculate that impairment of 11-cis retinol dehydrogenase 5 also leads to the accumulation of 11-cis retinol and related molecules, forming the flecks characteristic of fundus albipunctatus. (medlineplus.gov)
  • Retinal flecks are commonly observed in both Stargardt disease and fundus flavimaculatus (FFM). (bmj.com)
  • Six to 12 Stratus OCT linear scans focused on the retinal flecks were performed in each eye. (bmj.com)
  • OCT may therefore be useful in the diagnosis of retinal flecks in some cases of FFM. (bmj.com)
Attenuation1
  • Myopic-looking fundus with slight attenuation of the vasculature in this young child with RPE65 mutations. (aao.org)
Occlusion1
  • Based on the prognosis of the retinal vein occlusion, current treatment modalities offer an excellent chance at recovery of vision. (gbretina.com)
Examination1
  • Routine examination: Emphasize regular examinations because changes in fundus appearance over time may elucidate the eventual prognosis. (medscape.com)
Lesions1
  • Hyper-reflective deposits classified into two types were observed on Stratus OCT: type 1 lesions (94% of eyes) presented as dome-shaped deposits located in the inner part of the retinal pigment epithelium (RPE) layer and type 2 lesions (86% of eyes) presented as small linear deposits located at the level of the outer nuclear layer and clearly separated from the RPE layer. (bmj.com)
Vasculature1
  • 20 In addition, many groups have developed motion-based techniques to examine the retinal vasculature, which makes it possible to noninvasively measure blood velocity and visualize the smallest foveal capillaries. (touchophthalmology.com)
Diagnosis2
  • Family 3 (FAM3) consisted of a large family with a diagnosis of RP and an overall dominant pedigree, but the proband had phenotypically cone-rod dystrophy. (molvis.org)
  • Frequently a surgical urgency, a diagnosis of a retinal tear usually requires prompt in-office treatment with laser. (gbretina.com)
Albipunctatus2
Blindness1
Cone1