ArticleAmerican journal of human genetics2011
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data.BMC genomics · 2023Pooled it
- Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- The role of prostanoids in the retina and optic nerve in health and disease.Progress in retinal and eye research · 2026Review
- The Connection Between Cellular Metabolism and Retinal Disease.Advances in experimental medicine and biology · 2025Review
- Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.Korean journal of ophthalmology : KJO · 2024Article
- Suspected case of benign familial fleck retina with functional loss.Clinical case reports · 2023Article
- Secretory Phospholipases A2, from Snakebite Envenoming to a Myriad of Inflammation Associated Human Diseases-What Is the Secret of Their Activity?International journal of molecular sciences · 2023Review
- Lysolipids are prominent in subretinal drusenoid deposits, a high-risk phenotype in age-related macular degeneration.Frontiers in ophthalmology · 2023Article
- Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.Investigative ophthalmology & visual science · 2022Article
- Human Secretary Phospholipase A2 Mutations and Their Clinical Implications.Journal of inflammation research · 2020Review
- Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Lipoquality control by phospholipase AProceedings of the Japan Academy. Series B, Physical and biological sciences · 2017Review
- Article
- Metabolic regulation by secreted phospholipase AInflammation and regeneration · 2016Review
- The Roles of the Secreted Phospholipase AAdvances in immunology · 2016Review
- Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Scientific reports · 2015Article
- A new era of secreted phospholipase A₂.Journal of lipid research · 2015Article
- Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.Journal of medical genetics · 2015Article
- The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Journal of inherited metabolic disease · 2015Review
- The adipocyte-inducible secreted phospholipases PLA2G5 and PLA2G2E play distinct roles in obesity.Cell metabolism · 2014Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
Abstract
Flecked-retina syndromes, including fundus flavimaculatus, fundus albipunctatus, and benign fleck retina, comprise a group of disorders with widespread or limited distribution of yellow-white retinal lesions of various sizes and configurations. Three siblings who have benign fleck retina and were born to consanguineous parents are the basis of this report. A combination of homozygosity mapping and exome sequencing helped to identify a homozygous missense mutation, c.133G>T (p.Gly45Cys), in PLA2G5, a gene encoding a secreted phospholipase (group V phospholipase A(2)). A screen of a further four unrelated individuals with benign fleck retina detected biallelic variants in the same gene in three patients. In contrast, no loss of function or common (minor-allele frequency>0.05%) nonsynonymous PLA2G5 variants have been previously reported (EVS, dbSNP, 1000 Genomes Project) or were detected in an internal database of 224 exomes (from subjects with adult onset neurodegenerative disease and without a diagnosis of ophthalmic disease). All seven affected individuals had fundoscopic features compatible with those previously described in benign fleck retina and no visual or electrophysiological deficits. No medical history of major illness was reported. Levels of low-density lipoprotein were mildly elevated in two patients. Optical coherence tomography and fundus autofluorescence findings suggest that group V phospholipase A(2) plays a role in the phagocytosis of photoreceptor outer-segment discs by the retinal pigment epithelium. Surprisingly, immunohistochemical staining of human retinal tissue revealed localization of the protein predominantly in the inner and outer plexiform layers.
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Registered trials
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