ArticleAmerican journal of human genetics2013
Mutations in IMPG1 cause vitelliform macular dystrophies.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 80 citations in OpenAlex.
- Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- The short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Expanding the Genetic Spectrum inGenes · 2025Article
- Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.BMC ophthalmology · 2025Article
- Pattern Dystrophy.Advances in experimental medicine and biology · 2025Article
- Article
- Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.JAMA network open · 2024Article
- Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations.Human molecular genetics · 2024Article
- Vitelliform maculopathy in MELAS syndrome.American journal of ophthalmology case reports · 2023Article
- The morphological and functional diversity of apical microvilli.Journal of anatomy · 2023Review
- Adult-onset foveomacular vitelliform dystrophy: epidemiology, pathophysiology, imaging, and prognosis.Frontiers in ophthalmology · 2023Review
- Extracellular Matrix: The Unexplored Aspects of Retinal Pathologies and Regeneration.Advances in experimental medicine and biology · 2023Review
- Interphotoreceptor matrix proteoglycans IMPG1 and IMPG2 proteolyze in the SEA domain and reveal localization mutual dependency.Scientific reports · 2022Article
- Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease.Ophthalmology. Retina · 2022Article
- Bioinformatic analysis identifies potential key genes in the pathogenesis of age-related macular degeneration.Indian journal of ophthalmology · 2022Article
- SPACR Encoded byGenes · 2022Article
- Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.Investigative ophthalmology & visual science · 2022Article
- Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity.Biochemistry and biophysics reports · 2021Article
- A Case Report ofDiagnostics (Basel, Switzerland) · 2021Article
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Authors and funding
28 authors at 13 institutions in 7 countries.
Funding
Abstract
Vitelliform macular dystrophies (VMD) are inherited retinal dystrophies characterized by yellow, round deposits visible upon fundus examination and encountered in individuals with juvenile Best macular dystrophy (BMD) or adult-onset vitelliform macular dystrophy (AVMD). Although many BMD and some AVMD cases harbor mutations in BEST1 or PRPH2, the underlying genetic cause remains unknown for many affected individuals. In a large family with autosomal-dominant VMD, gene mapping and whole-exome sequencing led to the identification of a c.713T>G (p.Leu238Arg) IMPG1 mutation, which was subsequently found in two other families with autosomal-dominant VMD and the same phenotype. IMPG1 encodes the SPACR protein, a component of the rod and cone photoreceptor extracellular matrix domains. Structural modeling indicates that the p.Leu238Arg substitution destabilizes the conserved SEA1 domain of SPACR. Screening of 144 probands who had various forms of macular dystrophy revealed three other IMPG1 mutations. Two individuals from one family affected by autosomal-recessive VMD were homozygous for the splice-site mutation c.807+1G>T, and two from another family were compound heterozygous for the mutations c.461T>C (p.Leu154Pro) and c.1519C>T (p.Arg507(∗)). Most cases had a normal or moderately decreased electrooculogram Arden ratio. We conclude that IMPG1 mutations cause both autosomal-dominant and -recessive forms of VMD, thus indicating that impairment of the interphotoreceptor matrix might be a general cause of VMD.
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