Stargardt disease

age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness

DBpedia resource is: http://dbpedia.org/resource/Stargardt_disease

Abstract is: Stargardt disease is the most common inherited single-gene retinal disease. In terms of the first description of the disease, it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1). However, there are Stargardt-like diseases with mimicking phenotypes that are referred to as STGD3 and STGD4, and have a autosomal dominant inheritance due to defects with ELOVL4 or PROM1 genes, respectively. It is characterized by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision.

Wikimedia Commons category is Stargardt disease

Stargardt disease is …
instance of (P31):
rare diseaseQ929833
class of diseaseQ112193867

sublass of (P279):
age related macular degenerationQ830308
diseaseQ12136

External links are
P699Disease Ontology IDDOID:0050817
P557DiseasesDB31282
P10565Encyclopedia of China (Third Edition) ID69767
P2888exact matchhttp://identifiers.org/doid/DOID:0050817
http://purl.obolibrary.org/obo/DOID_0050817
http://www.orpha.net/ORDO/Orphanet_364055
http://www.orpha.net/ORDO/Orphanet_827
P646Freebase ID/m/0dt852
P4317GARD rare disease ID181
P494ICD-10 IDH35.5
P4229ICD-10-CMH35.5
P7807ICD-11 ID (Foundation)1690038580
P665KEGG IDH00819
P486MeSH descriptor IDD000080362
P672MeSH tree codeC11.270.872
C11.768.585.439.339
C16.320.290.724
P6366Microsoft Academic ID2780604041
P5270Mondo IDMONDO_0009549
P492OMIM ID603786
603786
600110
600110
248200
248200
P10283OpenAlex IDC2780604041
P1550Orphanet ID364055
P4233PatientsLikeMe condition IDstargardt-s-disease
P5806SNOMED CT ID70099003
P4527UK Parliament thesaurus ID457802
P2892UMLS CUIC0271093
C1855465
C1858080
P11430UniProt disease IDDI-01084
P11143WikiProjectMed IDStargardt disease
P3471WikiSkripta article ID80554

P2293genetic associationPROM1Q14911519
ABCA4Q17708694
ELOVL4Q18031758
CNGB3Q18041209
P1995health specialtyophthalmologyQ161437
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686

Reverse relations

medical condition (P1050)
Q27862750Alana Maldonado
Q111116659Alexandra Rexová
Q752548Asya Miller
Q67771778Carlotta Gilli
Q26822291Elena Krawzow
Q551820Filippo Timi
Q113890154Oral Metformin for Treatment of ABCA4 Retinopathy
Q113938199Pupil Dynamics and Color Vision for the Detection of Eye Diseases
Q64009877Salum Kashafali
Q113940777This is a Dose-finding Study Followed by 2-year Extension Study to Evaluate Safety and Tolerability of Tinlarebant in Adolescent Subjects With Stargardt Disease
Q107639586Valentina Petrillo
Q23761762Zac Shaw

genetic association (P2293)
Q17708694ABCA4
Q18041209CNGB3

main subject (P921)
Q57784377A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations
Q38671297A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele?
Q64053030A Workshop on Measuring the Progression of Atrophy Secondary to Stargardt Disease in the ProgStar Studies: Findings and Lessons Learned
Q35644079A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.
Q89641826A case of pentosan polysulfate maculopathy originally diagnosed as stargardt disease
Q34144117A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
Q39309986A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations
Q89000215A non-retinoid antagonist of retinol-binding protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle
Q28141384A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease
Q104749841A vicious cycle of bisretinoid formation and oxidation relevant to recessive Stargardt disease
Q90206579ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
Q44119099ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa
Q39465426ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation
Q89523987ABCA4-Associated Stargardt Disease
Q28139965ABCR: rod photoreceptor-specific ABC transporter responsible for Stargardt disease
Q60458139ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing
Q93225754Abnormal Visual Function Outside the Area of Atrophy Defined by Short-Wavelength Fundus Autofluorescence in Stargardt Disease
Q33973402Abnormality in the external limiting membrane in early Stargardt disease
Q33541901Advances in imaging of Stargardt disease
Q78160637Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study
Q57784990Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
Q43940069Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1.
Q64077492An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
Q51344632Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.
Q33557992Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease
Q100464793Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease
Q78112889Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration
Q92733152Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease
Q91052399Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease
Q98159549Assessment of AAV Dual Vector Safety in theAbca4 -/- Mouse Model of Stargardt Disease
Q98570552Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease
Q93336126Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease
Q92935926Automated classification of normal and Stargardt disease optical coherence tomography images using deep learning
Q96121032Bilateral focal choroidal excavations in a patient with Stargardt disease and ocular toxoplasmosis
Q46243402Bis(monoacylglycero)phosphate lipids in the retinal pigment epithelium implicate lysosomal/endosomal dysfunction in a model of Stargardt disease and human retinas
Q57030463CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease
Q47584009CHOROIDAL STRUCTURAL CHANGES AND VASCULARITY INDEX IN STARGARDT DISEASE ON SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY.
Q91384035CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION
Q57784741CLINICAL PHENOTYPE AS A PROGNOSTIC FACTOR IN STARGARDT DISEASE
Q35846035COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE.
Q86352166Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies?
Q83305013Case of Stargardt disease caused by uniparental isodisomy
Q102057403Cell-Type-Specific Complement Profiling in the ABCA4-/- Mouse Model of Stargardt Disease
Q37158866Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time
Q91677226Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography
Q39378960Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging
Q64043549Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study
Q93155245Choroidal Patterns in Stargardt Disease: Correlations with Visual Acuity and Disease Progression
Q35797029Choroidal Thickness in Eyes With Central Geographic Atrophy Secondary to Stargardt Disease and Age-Related Macular Degeneration.
Q41580189Choroidal hyperreflective foci in Stargardt disease shown by spectral-domain optical coherence tomography imaging: correlation with disease severity
Q89431374Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing
Q37339813Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.
Q98729395Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1
Q30742275Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease
Q47762433Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
Q44057460Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients
Q37642285Clinical polymorphism of stargardt disease in a large consanguineous tunisian family; implications for nosology
Q33569372Complement modulation in the retinal pigment epithelium rescues photoreceptor degeneration in a mouse model of Stargardt disease
Q28264805Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease
Q73621673Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance
Q35027477Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease
Q36143380Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy
Q30500872Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease
Q24621941Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy
Q90062574Correlation between Choriocapillaris Density and Retinal Sensitivity in Stargardt Disease
Q36223792Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy
Q91641056Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography
Q46718400Correlation of visual function impairment and OCT findings in patients with Stargardt disease and fundus flavimaculatus
Q60952889Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles"
Q40766001Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Q92851671Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease
Q59808141Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease
Q64085142Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease
Q34019653DHA supplementation for late onset Stargardt disease: NAT-3 study
Q44956673Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation
Q90585555Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease
Q100455024Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease
Q91045529Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Q97553940Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
Q57210396Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8
Q33529251Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease
Q35532081Disruption in Bruch membrane in patients with Stargardt disease
Q35000428Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa
Q73022922Dominant retinal dystrophies and Stargardt disease
Q92655246Dual ABCA4-AAV Vector Treatment Reduces Pathogenic Retinal A2E Accumulation in a Mouse Model of Autosomal Recessive Stargardt Disease
Q86941291Early diagnosis of Stargardt disease with multifocal electroretinogram in children
Q48230775Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene
Q86099736Early-onset stargardt disease: phenotypic and genotypic characteristics
Q35973141Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus
Q37143110En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease
Q40351942Estimation of depression prevalence in patients with Stargardt disease using PHQ-9 and Zung scores
Q40087293Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa
Q102209970Evidence of complement dysregulation in outer retina of stargardt disease donor eyes
Q38292892Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives.
Q28540924Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease
Q94603167Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease
Q88923159Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes
Q98651178Factors Influencing Retinal Pigment Epithelium-Atrophy Progression Rate in Stargardt Disease
Q90733944Factors influencing the choice of low-vision devices for visual rehabilitation in Stargardt disease
Q90720148Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14
Q91703404Fixation Location and Stability Using the MP-1 Microperimeter in Stargardt Disease: ProgStar Report No. 3
Q35918487Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography
Q43717427Fluorescein angiography diagnosis in Stargardt disease
Q35942841Fluorescence Lifetime Imaging in Stargardt Disease: Potential Marker for Disease Progression
Q91340613Fluorescence Lifetime Patterns of Retinal Pigment Epithelium Atrophy in Patients with Stargardt Disease and Age-Related Macular Degeneration
Q104569390Formulation and efficacy of ECO/pRHO-ABCA4-SV40 nanoparticles for nonviral gene therapy of Stargardt disease in a mouse model
Q44132881From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa
Q87417795Fundus autofluorescence patterns in stargardt disease over time
Q86930699Fundus autofluorescence patterns in stargardt disease over time-reply
Q92987931Fundus autofluorescence, spectral-domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model
Q37343605G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
Q79767990Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512
Q79767899Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536
Q79767903Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537
Q79767906Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538
Q38199048Gene therapy for Stargardt disease associated with ABCA4 gene
Q71501096Genetic fine mapping of the gene for recessive Stargardt disease
Q24540088Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
Q92524765High-Resolution Adaptive Optics in Vivo Autofluorescence Imaging in Stargardt Disease
Q90114296Highly Variable Disease Courses in Siblings with Stargardt Disease
Q36326882Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease
Q58095268Hyperreflective foci in Stargardt disease: 1-year follow-up
Q28546422Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis
Q61447912Identification of novel pathogenic variants in a Han Chinese family with Stargardt disease
Q90912978Impact of segmentation density on spectral domain optical coherence tomography assessment in Stargardt disease
Q73096534Improvement in macular function after epiretinal membrane removal in a patient with Stargardt disease
Q38679198Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5.
Q33811640Infrared scanning laser ophthalmoscope imaging of the macula and its correlation with functional loss and structural changes in patients with stargardt disease
Q39969668Interactive Image Analysis in Age-related Macular Degeneration (AMD) and Stargardt Disease (STGD).
Q90748347Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles
Q43622394Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
Q104284556Living with Stargardt disease: insights from patients and their parents
Q98163882Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients
Q57210111Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12
Q95940524Longitudinal Microperimetric Changes of Macular Sensitivity in Stargardt Disease After 12 Months: ProgStar Report No. 13
Q87104951Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype
Q46689763Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants
Q38679202Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7.
Q34615627Macular function and morphologic features in juvenile stargardt disease: longitudinal study.
Q50933330Macular hole in Stargardt disease: Clinical and ultra-structural observation.
Q64093656Macular hyperpigmentary changes in -Stargardt disease
Q35762929Mechanism of all-trans-retinal toxicity with implications for stargardt disease and age-related macular degeneration
Q38310556Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele
Q94943526Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Q36482104Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
Q44860250Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa
Q34366050Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
Q28538229Molecular diagnosis of putative Stargardt disease by capture next generation sequencing
Q45036149Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.
Q91830881Monitoring and Management of the Patient with Stargardt Disease
Q38747915Morpho-functional analysis of Stargardt Disease for reading
Q38575206Morphology and Vascular Layers of the Choroid in Stargardt Disease Analyzed Using Spectral-Domain Optical Coherence Tomography
Q53276404Morphology and Vascular Layers of the Choroid in Stargardt Disease Analyzed Using Spectral-Domain Optical Coherence Tomography.
Q91361053Multimodal evaluation of central and peripheral alterations in Stargardt disease: a pilot study
Q46049418Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy
Q37610127Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Q55359814Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.
Q28248752Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
Q38294870Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients
Q35432649Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus
Q92944934Natural History of Autosomal Recessive Stargardt Disease in Untreated Eyes: A Systematic Review and Meta-analysis of Study- and Individual-Level Data
Q35677324Near-infrared autofluorescence: its relationship to short-wavelength autofluorescence and optical coherence tomography in recessive stargardt disease
Q73535479New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease
Q90767995New Treatments for Stargardt Disease and Related Retinal Degenerative Diseases
Q35566134New insights into Stargardt disease with multimodal imaging
Q90700521Non-viral Gene Therapy for Stargardt Disease with ECO/pRHO-ABCA4 Self-Assembled Nanoparticles
Q47427954Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.
Q80991016Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Q81319745Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Q82674833Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Q94954647Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Q37339031Novel lipofuscin bisretinoids prominent in human retina and in a model of recessive Stargardt disease
Q37235131Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family
Q96351455Novel variants associated with Stargardt disease in Chinese patients
Q101136842Novel variants of ABCA4 in Han Chinese families with Stargardt disease
Q43785452Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.
Q91938217OCTA-Based Identification of Different Vascular Patterns in Stargardt Disease
Q35891941Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease
Q83352490Occurrence of full-thickness macular hole complicating Stargardt disease with ABCR mutation
Q88961442Omega-3 Fatty Acids Supplementation: Therapeutic Potential in a Mouse Model of Stargardt Disease
Q36267441Optical Coherence Tomography Angiography Findings in Stargardt Disease
Q36908091Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
Q93336121Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease
Q91968400Perceptual learning in patients with Stargardt disease
Q91605153Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease
Q47241696Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence
Q97088879Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect
Q55027023Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.
Q57784281Phenotypic Variation in a Family With Pseudodominant Stargardt Disease
Q85947126Photodynamic therapy for bilateral and simultaneous choroidal neovascularization in stargardt disease
Q85947546Photodynamic therapy for choroidal neovascularization in stargardt disease and retinitis pigmentosa
Q36307181Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data.
Q90721963Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease
Q92336853Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11
Q46455405Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).
Q91703743Progression of Visual Acuity and Fundus Autofluorescence in Recent-Onset Stargardt Disease: ProgStar Study Report #4
Q91776140Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry
Q34090794Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli
Q35562341Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1).
Q33287366Quantifying fixation in patients with Stargardt disease
Q30577468Quantitative fundus autofluorescence in recessive Stargardt disease
Q93095010RETINAL FLECKS IN STARGARDT DISEASE REVEAL CHARACTERISTIC FLUORESCENCE LIFETIME TRANSITION OVER TIME
Q102210241Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease
Q93193203Re: Shen et al.: Natural history of autosomal recessive Stargardt disease in untreated eyes: a systematic review and meta-analysis of study and individual level data (Ophthalmology. 2019;126:1288-1296)
Q36627171Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy
Q38664527Reliability and Repeatability of Cone Density Measurements in Patients With Stargardt Disease and RPGR-Associated Retinopathy
Q92052386Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Q101144679Retinal Boundary Segmentation in Stargardt Disease Optical Coherence Tomography Images Using Automated Deep Learning
Q97640212Retinal Glial and Choroidal Vascular Pathology in Donors Clinically Diagnosed With Stargardt Disease
Q51110368Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations.
Q94451583Retinal light sensitivity as outcome measure in recessive Stargardt disease
Q28138732Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease
Q28117716Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
Q52925297STARGARDT DISEASE: Beyond Flecks and Atrophy.
Q100424715Saccadic movements assessment in eccentric fixation: A study in patients with Stargardt disease
Q89236749Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1)
Q40968611Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations
Q42636274Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness
Q44524297Stargardt disease caused by a rare combination of double homozygous mutations
Q95790267Stargardt disease in a patient with retinoblastoma
Q82935579Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene
Q28075612Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
Q77768194Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families
Q41866189Stargardt disease: towards developing a model to predict phenotype.
Q55084162Stargardt disease: towards developing a model to predict phenotype.
Q28294377Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)
Q53114541Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene.
Q91629644Systemic administration of the di-apocarotenoid norbixin (BIO201) is neuroprotective, preserves photoreceptor function and inhibits A2E and lipofuscin accumulation in animal models of age-related macular degeneration and Stargardt disease
Q37320089Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial.
Q24540182The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
Q92559066The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease
Q89414123The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants
Q95293104The Effect of Attention on Fixation Stability during Dynamic Fixation Testing in Stargardt Disease
Q91703730The Epidemiology of Stargardt Disease in the United Kingdom
Q88147540The Importance of Outcome Measure Research in Stargardt Disease
Q39493489The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.
Q57179391The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1)
Q92566267The absence of fundus abnormalities in Stargardt disease
Q36288534The all-trans-retinal dimer series of lipofuscin pigments in retinal pigment epithelial cells in a recessive Stargardt disease model.
Q44795210The course of fundus flavimaculatus in Stargardt disease
Q35146631The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review
Q99350597The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa
Q51366977The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Q38352538The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene
Q33902976The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease
Q102055725Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography
Q42212373Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus
Q92336888Toward a Treatment Trial for Stargardt Disease: Putting Out the Fire
Q41063126Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness
Q36926064Transduction of photoreceptors with equine infectious anemia virus lentiviral vectors: safety and biodistribution of StarGen for Stargardt disease
Q35925184Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP)
Q35979853Treatment of Stargardt disease with dobesilate
Q60473177Treatments for dry age-related macular degeneration and Stargardt disease: a systematic review
Q50081854VISUAL ACUITY IN PATIENTS WITH STARGARDT DISEASE AFTER AGE 40.
Q85947175Variable expressivity of abca4 gene mutations in an italian family with stargardt disease
Q57784906Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration
Q53573295Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography.
Q57173001Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10
Q38761125Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6.
Q39144656Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2).
Q64112433Visual rehabilitation using video game stimulation for Stargardt disease
Q56594096[58] ABCR: Rod photoreceptor-specific ABC transporter responsible for Stargardt disease
Q87334934[Correlation of optical coherence tomographic and fundus autofluorescence in Stargardt disease]
Q69478263[Heredity in Stargardt disease and fundus flavimaculatus]
Q78638659[Infantile amaurotic idiocy with macular degeneration of Stargardt disease type in the mother & maternal uncle.]
Q98936488[New possibilities in the treatment of Stargardt disease]
Q82278327[Relationship between central visual acuity and retinal volume of macular fovea accessed by spectral domain optical coherence tomography in Stargardt disease]

The articles in Wikimedia projects and languages

      Category:Stargardt diseasewikimedia
Arabic (ar / Q13955)مرض شتارغاردتwikipedia
Catalan (ca / Q7026)Malaltia de Stargardtwikipedia
      Morbus Stargardtwikipedia
      Stargardt diseasewikipedia
      Enfermedad de Stargardtwikipedia
Persian (fa / Q9168)اشتارگاتwikipedia
      Stargardtin tautiwikipedia
      Maladie de Stargardtwikipedia
      מחלת סטרגרדטwikipedia
      Penyakit Stargardtwikipedia
      Malattia di Stargardtwikipedia
mkСтаргардова болестwikipedia
      Choroba Stargardtawikipedia
      Doença de Stargardtwikipedia
      Maladia Stargardtwikipedia
      Болезнь Штаргардтаwikipedia
      Stargardtova chorobawikipedia
Tatar language (tt / Q25285)Штаргардт чиреwikipedia
uzStargardt kasalligiwikipedia

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