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.
rare disease | Q929833 |
class of disease | Q112193867 |
age related macular degeneration | Q830308 |
disease | Q12136 |
P699 | Disease Ontology ID | DOID:0050817 |
P557 | DiseasesDB | 31282 |
P10565 | Encyclopedia of China (Third Edition) ID | 69767 |
P2888 | exact match | http://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 | ||
P646 | Freebase ID | /m/0dt852 |
P4317 | GARD rare disease ID | 181 |
P494 | ICD-10 ID | H35.5 |
P4229 | ICD-10-CM | H35.5 |
P7807 | ICD-11 ID (Foundation) | 1690038580 |
P665 | KEGG ID | H00819 |
P486 | MeSH descriptor ID | D000080362 |
P672 | MeSH tree code | C11.270.872 |
C11.768.585.439.339 | ||
C16.320.290.724 | ||
P6366 | Microsoft Academic ID | 2780604041 |
P5270 | Mondo ID | MONDO_0009549 |
P492 | OMIM ID | 603786 |
603786 | ||
600110 | ||
600110 | ||
248200 | ||
248200 | ||
P10283 | OpenAlex ID | C2780604041 |
P1550 | Orphanet ID | 364055 |
P4233 | PatientsLikeMe condition ID | stargardt-s-disease |
P5806 | SNOMED CT ID | 70099003 |
P4527 | UK Parliament thesaurus ID | 457802 |
P2892 | UMLS CUI | C0271093 |
C1855465 | ||
C1858080 | ||
P11430 | UniProt disease ID | DI-01084 |
P11143 | WikiProjectMed ID | Stargardt disease |
P3471 | WikiSkripta article ID | 80554 |
P2293 | genetic association | PROM1 | Q14911519 |
ABCA4 | Q17708694 | ||
ELOVL4 | Q18031758 | ||
CNGB3 | Q18041209 | ||
P1995 | health specialty | ophthalmology | Q161437 |
P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
Q27862750 | Alana Maldonado |
Q111116659 | Alexandra Rexová |
Q752548 | Asya Miller |
Q67771778 | Carlotta Gilli |
Q26822291 | Elena Krawzow |
Q551820 | Filippo Timi |
Q113890154 | Oral Metformin for Treatment of ABCA4 Retinopathy |
Q113938199 | Pupil Dynamics and Color Vision for the Detection of Eye Diseases |
Q64009877 | Salum Kashafali |
Q113940777 | This is a Dose-finding Study Followed by 2-year Extension Study to Evaluate Safety and Tolerability of Tinlarebant in Adolescent Subjects With Stargardt Disease |
Q107639586 | Valentina Petrillo |
Q23761762 | Zac Shaw |
Q57784377 | A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations |
Q38671297 | A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele? |
Q64053030 | A Workshop on Measuring the Progression of Atrophy Secondary to Stargardt Disease in the ProgStar Studies: Findings and Lessons Learned |
Q35644079 | A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. |
Q89641826 | A case of pentosan polysulfate maculopathy originally diagnosed as stargardt disease |
Q34144117 | A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. |
Q39309986 | A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations |
Q89000215 | A non-retinoid antagonist of retinol-binding protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle |
Q28141384 | A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease |
Q104749841 | A vicious cycle of bisretinoid formation and oxidation relevant to recessive Stargardt disease |
Q90206579 | ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants |
Q44119099 | ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa |
Q39465426 | ABCA4 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 |
Q89523987 | ABCA4-Associated Stargardt Disease |
Q28139965 | ABCR: rod photoreceptor-specific ABC transporter responsible for Stargardt disease |
Q60458139 | ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing |
Q93225754 | Abnormal Visual Function Outside the Area of Atrophy Defined by Short-Wavelength Fundus Autofluorescence in Stargardt Disease |
Q33973402 | Abnormality in the external limiting membrane in early Stargardt disease |
Q33541901 | Advances in imaging of Stargardt disease |
Q78160637 | Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study |
Q57784990 | Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration |
Q43940069 | Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1. |
Q64077492 | An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease |
Q51344632 | Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients. |
Q33557992 | Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease |
Q100464793 | Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease |
Q78112889 | Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration |
Q92733152 | Antisense 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 |
Q91052399 | Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease |
Q98159549 | Assessment of AAV Dual Vector Safety in theAbca4 -/- Mouse Model of Stargardt Disease |
Q98570552 | Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease |
Q93336126 | Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease |
Q92935926 | Automated classification of normal and Stargardt disease optical coherence tomography images using deep learning |
Q96121032 | Bilateral focal choroidal excavations in a patient with Stargardt disease and ocular toxoplasmosis |
Q46243402 | Bis(monoacylglycero)phosphate lipids in the retinal pigment epithelium implicate lysosomal/endosomal dysfunction in a model of Stargardt disease and human retinas |
Q57030463 | CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease |
Q47584009 | CHOROIDAL STRUCTURAL CHANGES AND VASCULARITY INDEX IN STARGARDT DISEASE ON SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY. |
Q91384035 | CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION |
Q57784741 | CLINICAL PHENOTYPE AS A PROGNOSTIC FACTOR IN STARGARDT DISEASE |
Q35846035 | COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE. |
Q86352166 | Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies? |
Q83305013 | Case of Stargardt disease caused by uniparental isodisomy |
Q102057403 | Cell-Type-Specific Complement Profiling in the ABCA4-/- Mouse Model of Stargardt Disease |
Q37158866 | Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time |
Q91677226 | Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography |
Q39378960 | Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging |
Q64043549 | Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study |
Q93155245 | Choroidal Patterns in Stargardt Disease: Correlations with Visual Acuity and Disease Progression |
Q35797029 | Choroidal Thickness in Eyes With Central Geographic Atrophy Secondary to Stargardt Disease and Age-Related Macular Degeneration. |
Q41580189 | Choroidal hyperreflective foci in Stargardt disease shown by spectral-domain optical coherence tomography imaging: correlation with disease severity |
Q89431374 | Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing |
Q37339813 | Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families. |
Q98729395 | Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1 |
Q30742275 | Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease |
Q47762433 | Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. |
Q44057460 | Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients |
Q37642285 | Clinical polymorphism of stargardt disease in a large consanguineous tunisian family; implications for nosology |
Q33569372 | Complement modulation in the retinal pigment epithelium rescues photoreceptor degeneration in a mouse model of Stargardt disease |
Q28264805 | Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease |
Q73621673 | Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance |
Q35027477 | Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease |
Q36143380 | Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy |
Q30500872 | Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease |
Q24621941 | Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy |
Q90062574 | Correlation between Choriocapillaris Density and Retinal Sensitivity in Stargardt Disease |
Q36223792 | Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy |
Q91641056 | Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography |
Q46718400 | Correlation of visual function impairment and OCT findings in patients with Stargardt disease and fundus flavimaculatus |
Q60952889 | Corrigendum 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" |
Q40766001 | Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. |
Q92851671 | Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease |
Q59808141 | Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease |
Q64085142 | Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease |
Q34019653 | DHA supplementation for late onset Stargardt disease: NAT-3 study |
Q44956673 | Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation |
Q90585555 | Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease |
Q100455024 | Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease |
Q91045529 | Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides |
Q97553940 | Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease |
Q57210396 | Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8 |
Q33529251 | Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease |
Q35532081 | Disruption in Bruch membrane in patients with Stargardt disease |
Q35000428 | Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa |
Q73022922 | Dominant retinal dystrophies and Stargardt disease |
Q92655246 | Dual ABCA4-AAV Vector Treatment Reduces Pathogenic Retinal A2E Accumulation in a Mouse Model of Autosomal Recessive Stargardt Disease |
Q86941291 | Early diagnosis of Stargardt disease with multifocal electroretinogram in children |
Q48230775 | Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene |
Q86099736 | Early-onset stargardt disease: phenotypic and genotypic characteristics |
Q35973141 | Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus |
Q37143110 | En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease |
Q40351942 | Estimation of depression prevalence in patients with Stargardt disease using PHQ-9 and Zung scores |
Q40087293 | Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa |
Q102209970 | Evidence of complement dysregulation in outer retina of stargardt disease donor eyes |
Q38292892 | Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives. |
Q28540924 | Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease |
Q94603167 | Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease |
Q88923159 | Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes |
Q98651178 | Factors Influencing Retinal Pigment Epithelium-Atrophy Progression Rate in Stargardt Disease |
Q90733944 | Factors influencing the choice of low-vision devices for visual rehabilitation in Stargardt disease |
Q90720148 | Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14 |
Q91703404 | Fixation Location and Stability Using the MP-1 Microperimeter in Stargardt Disease: ProgStar Report No. 3 |
Q35918487 | Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography |
Q43717427 | Fluorescein angiography diagnosis in Stargardt disease |
Q35942841 | Fluorescence Lifetime Imaging in Stargardt Disease: Potential Marker for Disease Progression |
Q91340613 | Fluorescence Lifetime Patterns of Retinal Pigment Epithelium Atrophy in Patients with Stargardt Disease and Age-Related Macular Degeneration |
Q104569390 | Formulation and efficacy of ECO/pRHO-ABCA4-SV40 nanoparticles for nonviral gene therapy of Stargardt disease in a mouse model |
Q44132881 | From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa |
Q87417795 | Fundus autofluorescence patterns in stargardt disease over time |
Q86930699 | Fundus autofluorescence patterns in stargardt disease over time-reply |
Q92987931 | Fundus autofluorescence, spectral-domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model |
Q37343605 | G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy |
Q79767990 | Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512 |
Q79767899 | Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536 |
Q79767903 | Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537 |
Q79767906 | Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538 |
Q38199048 | Gene therapy for Stargardt disease associated with ABCA4 gene |
Q71501096 | Genetic fine mapping of the gene for recessive Stargardt disease |
Q24540088 | Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease |
Q92524765 | High-Resolution Adaptive Optics in Vivo Autofluorescence Imaging in Stargardt Disease |
Q90114296 | Highly Variable Disease Courses in Siblings with Stargardt Disease |
Q36326882 | Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease |
Q58095268 | Hyperreflective foci in Stargardt disease: 1-year follow-up |
Q28546422 | Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis |
Q61447912 | Identification of novel pathogenic variants in a Han Chinese family with Stargardt disease |
Q90912978 | Impact of segmentation density on spectral domain optical coherence tomography assessment in Stargardt disease |
Q73096534 | Improvement in macular function after epiretinal membrane removal in a patient with Stargardt disease |
Q38679198 | Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5. |
Q33811640 | Infrared scanning laser ophthalmoscope imaging of the macula and its correlation with functional loss and structural changes in patients with stargardt disease |
Q39969668 | Interactive Image Analysis in Age-related Macular Degeneration (AMD) and Stargardt Disease (STGD). |
Q90748347 | Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles |
Q43622394 | Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). |
Q104284556 | Living with Stargardt disease: insights from patients and their parents |
Q98163882 | Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients |
Q57210111 | Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12 |
Q95940524 | Longitudinal Microperimetric Changes of Macular Sensitivity in Stargardt Disease After 12 Months: ProgStar Report No. 13 |
Q87104951 | Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype |
Q46689763 | Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants |
Q38679202 | Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7. |
Q34615627 | Macular function and morphologic features in juvenile stargardt disease: longitudinal study. |
Q50933330 | Macular hole in Stargardt disease: Clinical and ultra-structural observation. |
Q64093656 | Macular hyperpigmentary changes in -Stargardt disease |
Q35762929 | Mechanism of all-trans-retinal toxicity with implications for stargardt disease and age-related macular degeneration |
Q38310556 | Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele |
Q94943526 | Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles |
Q36482104 | Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa |
Q44860250 | Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa |
Q34366050 | Molecular diagnosis of putative Stargardt Disease probands by exome sequencing |
Q28538229 | Molecular diagnosis of putative Stargardt disease by capture next generation sequencing |
Q45036149 | Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations. |
Q91830881 | Monitoring and Management of the Patient with Stargardt Disease |
Q38747915 | Morpho-functional analysis of Stargardt Disease for reading |
Q38575206 | Morphology and Vascular Layers of the Choroid in Stargardt Disease Analyzed Using Spectral-Domain Optical Coherence Tomography |
Q53276404 | Morphology and Vascular Layers of the Choroid in Stargardt Disease Analyzed Using Spectral-Domain Optical Coherence Tomography. |
Q91361053 | Multimodal evaluation of central and peripheral alterations in Stargardt disease: a pilot study |
Q46049418 | Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy |
Q37610127 | Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. |
Q55359814 | Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles. |
Q28248752 | Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration |
Q38294870 | Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients |
Q35432649 | Mutations 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 |
Q92944934 | Natural History of Autosomal Recessive Stargardt Disease in Untreated Eyes: A Systematic Review and Meta-analysis of Study- and Individual-Level Data |
Q35677324 | Near-infrared autofluorescence: its relationship to short-wavelength autofluorescence and optical coherence tomography in recessive stargardt disease |
Q73535479 | New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease |
Q90767995 | New Treatments for Stargardt Disease and Related Retinal Degenerative Diseases |
Q35566134 | New insights into Stargardt disease with multimodal imaging |
Q90700521 | Non-viral Gene Therapy for Stargardt Disease with ECO/pRHO-ABCA4 Self-Assembled Nanoparticles |
Q47427954 | Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation. |
Q80991016 | Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease |
Q81319745 | Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease |
Q82674833 | Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease |
Q94954647 | Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease |
Q37339031 | Novel lipofuscin bisretinoids prominent in human retina and in a model of recessive Stargardt disease |
Q37235131 | Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family |
Q96351455 | Novel variants associated with Stargardt disease in Chinese patients |
Q101136842 | Novel variants of ABCA4 in Han Chinese families with Stargardt disease |
Q43785452 | Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. |
Q91938217 | OCTA-Based Identification of Different Vascular Patterns in Stargardt Disease |
Q35891941 | Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease |
Q83352490 | Occurrence of full-thickness macular hole complicating Stargardt disease with ABCR mutation |
Q88961442 | Omega-3 Fatty Acids Supplementation: Therapeutic Potential in a Mouse Model of Stargardt Disease |
Q36267441 | Optical Coherence Tomography Angiography Findings in Stargardt Disease |
Q36908091 | Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease |
Q93336121 | Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease |
Q91968400 | Perceptual learning in patients with Stargardt disease |
Q91605153 | Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease |
Q47241696 | Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence |
Q97088879 | Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect |
Q55027023 | Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations. |
Q57784281 | Phenotypic Variation in a Family With Pseudodominant Stargardt Disease |
Q85947126 | Photodynamic therapy for bilateral and simultaneous choroidal neovascularization in stargardt disease |
Q85947546 | Photodynamic therapy for choroidal neovascularization in stargardt disease and retinitis pigmentosa |
Q36307181 | Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. |
Q90721963 | Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease |
Q92336853 | Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11 |
Q46455405 | Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9). |
Q91703743 | Progression of Visual Acuity and Fundus Autofluorescence in Recent-Onset Stargardt Disease: ProgStar Study Report #4 |
Q91776140 | Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry |
Q34090794 | Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli |
Q35562341 | Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1). |
Q33287366 | Quantifying fixation in patients with Stargardt disease |
Q30577468 | Quantitative fundus autofluorescence in recessive Stargardt disease |
Q93095010 | RETINAL FLECKS IN STARGARDT DISEASE REVEAL CHARACTERISTIC FLUORESCENCE LIFETIME TRANSITION OVER TIME |
Q102210241 | Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease |
Q93193203 | Re: 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) |
Q36627171 | Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy |
Q38664527 | Reliability and Repeatability of Cone Density Measurements in Patients With Stargardt Disease and RPGR-Associated Retinopathy |
Q92052386 | Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics |
Q101144679 | Retinal Boundary Segmentation in Stargardt Disease Optical Coherence Tomography Images Using Automated Deep Learning |
Q97640212 | Retinal Glial and Choroidal Vascular Pathology in Donors Clinically Diagnosed With Stargardt Disease |
Q51110368 | Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations. |
Q94451583 | Retinal light sensitivity as outcome measure in recessive Stargardt disease |
Q28138732 | Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease |
Q28117716 | Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR |
Q52925297 | STARGARDT DISEASE: Beyond Flecks and Atrophy. |
Q100424715 | Saccadic movements assessment in eccentric fixation: A study in patients with Stargardt disease |
Q89236749 | Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1) |
Q40968611 | Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations |
Q42636274 | Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness |
Q44524297 | Stargardt disease caused by a rare combination of double homozygous mutations |
Q95790267 | Stargardt disease in a patient with retinoblastoma |
Q82935579 | Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene |
Q28075612 | Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options |
Q77768194 | Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families |
Q41866189 | Stargardt disease: towards developing a model to predict phenotype. |
Q55084162 | Stargardt disease: towards developing a model to predict phenotype. |
Q28294377 | Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD) |
Q53114541 | Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene. |
Q91629644 | Systemic 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 |
Q37320089 | Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial. |
Q24540182 | The 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 |
Q92559066 | The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease |
Q89414123 | The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants |
Q95293104 | The Effect of Attention on Fixation Stability during Dynamic Fixation Testing in Stargardt Disease |
Q91703730 | The Epidemiology of Stargardt Disease in the United Kingdom |
Q88147540 | The Importance of Outcome Measure Research in Stargardt Disease |
Q39493489 | The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. |
Q57179391 | The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1) |
Q92566267 | The absence of fundus abnormalities in Stargardt disease |
Q36288534 | The all-trans-retinal dimer series of lipofuscin pigments in retinal pigment epithelial cells in a recessive Stargardt disease model. |
Q44795210 | The course of fundus flavimaculatus in Stargardt disease |
Q35146631 | The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review |
Q99350597 | The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa |
Q51366977 | The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. |
Q38352538 | The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene |
Q33902976 | The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease |
Q102055725 | Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography |
Q42212373 | Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus |
Q92336888 | Toward a Treatment Trial for Stargardt Disease: Putting Out the Fire |
Q41063126 | Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness |
Q36926064 | Transduction of photoreceptors with equine infectious anemia virus lentiviral vectors: safety and biodistribution of StarGen for Stargardt disease |
Q35925184 | Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP) |
Q35979853 | Treatment of Stargardt disease with dobesilate |
Q60473177 | Treatments for dry age-related macular degeneration and Stargardt disease: a systematic review |
Q50081854 | VISUAL ACUITY IN PATIENTS WITH STARGARDT DISEASE AFTER AGE 40. |
Q85947175 | Variable expressivity of abca4 gene mutations in an italian family with stargardt disease |
Q57784906 | Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration |
Q53573295 | Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography. |
Q57173001 | Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10 |
Q38761125 | Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6. |
Q39144656 | Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2). |
Q64112433 | Visual 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] |
Category:Stargardt disease | wikimedia | |
Arabic (ar / Q13955) | مرض شتارغاردت | wikipedia |
Catalan (ca / Q7026) | Malaltia de Stargardt | wikipedia |
Morbus Stargardt | wikipedia | |
Stargardt disease | wikipedia | |
Enfermedad de Stargardt | wikipedia | |
Persian (fa / Q9168) | اشتارگات | wikipedia |
Stargardtin tauti | wikipedia | |
Maladie de Stargardt | wikipedia | |
מחלת סטרגרדט | wikipedia | |
Penyakit Stargardt | wikipedia | |
Malattia di Stargardt | wikipedia | |
mk | Старгардова болест | wikipedia |
Choroba Stargardta | wikipedia | |
Doença de Stargardt | wikipedia | |
Maladia Stargardt | wikipedia | |
Болезнь Штаргардта | wikipedia | |
Stargardtova choroba | wikipedia | |
Tatar language (tt / Q25285) | Штаргардт чире | wikipedia |
uz | Stargardt kasalligi | wikipedia |
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