Sorsby macular dystrophy is an autosomal dominant disorder secondary to heterozygous mutations in the TIMP3 gene in 22q12. It begins with fine, pale, drusen-like deposits or confluent, faint yellow material or sheets beneath the retinal pigment epithelium, but it eventually progresses to either geographic atrophy with pigmentary clumps or scars due to the choroidal neovascular membrane around the fourth decade of life. We describe a patient who presented with a progressive loss of unilateral visual acuity, wrongly suggesting an infectious or inflammatory disease.
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Human iPSC-based disease modeling studies identify a common mechanistic defect and potential therapies for AMD and related macular dystrophies.
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Department of Ophthalmology, University of Rochester, Rochester, NY 14620, USA; Department of Biomedical Genetics, University of Rochester, Rochester, NY 14620, USA; Center for Visual Science, University of Rochester, Rochester, NY 14620, USA; UR Stem Cell and Regenerative Medicine Center, Rochester, NY 14620, USA. Electronic address:
Article Synopsis
- Age-related macular degeneration (AMD) and related macular dystrophies (MDs) primarily impact the retinal pigment epithelium (RPE) with drusen deposits being a key feature in the progression of these diseases.
- The research indicates that reduced activity of matrix metalloproteinase 2 (MMP2) in RPE contributes to drusen formation by causing sterile inflammation and disrupting lipid balance, interacting with specific receptors and molecules.
- Therapeutic approaches including MMP2 supplementation and inhibiting RAGE and sPLA2-IIA have shown promise in reducing drusen accumulation in patient-derived RPE cells, highlighting a potential treatment pathway for AMD/MDs.
Acetyl-CoA carboxylase inhibition increases retinal pigment epithelial cell fatty acid flux and restricts apolipoprotein efflux.
J Biol Chem
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Department of Biochemistry, University of Washington, Seattle, Washington, USA; Department of Ophthalmology, University of Washington, Seattle, Washington, USA. Electronic address:
Lipid-rich deposits called drusen accumulate under the retinal pigment epithelium (RPE) in the eyes of patients with age-related macular degeneration and Sorsby's fundus dystrophy (SFD). Drusen may contribute to photoreceptor degeneration in these blinding diseases. Stimulating β-oxidation of fatty acids could decrease the availability of lipid with which RPE cells generate drusen.
View Article and Find Full Text PDFTissue Inhibitor of Metalloproteinase 3 (TIMP3) mutations increase glycolytic activity and dysregulate glutamine metabolism in RPE cells.
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Cole Eye Institute, Department of Ophthalmic Research, Cleveland Clinic Foundation, Cleveland, OH, USA; Cleveland Clinic Lerner College of Medicine at Case Western Reserve University, Dept. of Ophthalmology, Cleveland, OH, USA. Electronic address:
Objectives: Mutations in Tissue Inhibitor of Metalloproteinases 3 (TIMP3) cause Sorsby's Fundus Dystrophy (SFD), a dominantly inherited, rare form of macular degeneration that results in vision loss. TIMP3 is synthesized primarily by retinal pigment epithelial (RPE) cells, which constitute the outer blood-retinal barrier. One major function of RPE is the synthesis and transport of vital nutrients, such as glucose, to the retina.
View Article and Find Full Text PDFAtypical Presentation Revealing Sorsby Macular Dystrophy: A Case Report.
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Ophthalmology, Mohammed V University, Hospital des Specialités de Rabat, Rabat, MAR.
Sorsby macular dystrophy is an autosomal dominant disorder secondary to heterozygous mutations in the TIMP3 gene in 22q12. It begins with fine, pale, drusen-like deposits or confluent, faint yellow material or sheets beneath the retinal pigment epithelium, but it eventually progresses to either geographic atrophy with pigmentary clumps or scars due to the choroidal neovascular membrane around the fourth decade of life. We describe a patient who presented with a progressive loss of unilateral visual acuity, wrongly suggesting an infectious or inflammatory disease.
View Article and Find Full Text PDFOptical Coherence Tomography in Inherited Macular Dystrophies: A Review.
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Oftalmologia Mèdica i Quirúrgica (OMIQ) Research, c/Tamarit 39, 08205 Sabadell, Spain.
Macular dystrophies (MDs) constitute a collection of hereditary retina disorders leading to notable visual impairment, primarily due to progressive macular atrophy. These conditions are distinguished by bilateral and relatively symmetrical abnormalities in the macula that significantly impair central visual function. Recent strides in fundus imaging, especially optical coherence tomography (OCT), have enhanced our comprehension and diagnostic capabilities for MD.
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