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Quoted phrase not found in phrase index: "Patterned macular dystrophy 3"
Page 1
The Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration.
Fleckenstein M, Mitchell P, Freund KB, Sadda S, Holz FG, Brittain C, Henry EC, Ferrara D. Fleckenstein M, et al. Ophthalmology. 2018 Mar;125(3):369-390. doi: 10.1016/j.ophtha.2017.08.038. Epub 2017 Oct 27. Ophthalmology. 2018. PMID: 29110945 Free article. Review.
Geographic atrophy (GA) is an advanced form of age-related macular degeneration (AMD) that leads to progressive and irreversible loss of visual function. ...Overall, GA progression rates reported in the literature for total study populations range from 0.53 to 2.6 m …
Geographic atrophy (GA) is an advanced form of age-related macular degeneration (AMD) that leads to progressive and irreversib …
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG. Ma DJ, et al. BMC Med Genomics. 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. BMC Med Genomics. 2021. PMID: 33691693 Free PMC article.
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines, in silico prediction tools, published literature, and compatibility wit …
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Associati …
Ischemic Choroidal Diseases.
Barth T, Helbig H. Barth T, et al. Klin Monbl Augenheilkd. 2021 Sep;238(9):962-970. doi: 10.1055/a-1402-7592. Epub 2021 Aug 20. Klin Monbl Augenheilkd. 2021. PMID: 34416787 English, German.
INTRODUCTION: Ischemic choroidal diseases are an underdiagnosed entity. The clinical pattern varies according to the size and the localisation of the affected vascular structure. ...Recent advances in imaging, such as the introduction of enhanced depth imaging optical cohe …
INTRODUCTION: Ischemic choroidal diseases are an underdiagnosed entity. The clinical pattern varies according to the size and the loc …
Characterization of Drusen and Hyperreflective Foci as Biomarkers for Disease Progression in Age-Related Macular Degeneration Using Artificial Intelligence in Optical Coherence Tomography.
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U. Waldstein SM, et al. JAMA Ophthalmol. 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. JAMA Ophthalmol. 2020. PMID: 32379287 Free PMC article. Clinical Trial.
IMPORTANCE: The morphologic changes and their pathognomonic distribution in progressing age-related macular degeneration (AMD) are not well understood. OBJECTIVES: To characterize the pathognomonic distribution and time course of morphologic patterns i …
IMPORTANCE: The morphologic changes and their pathognomonic distribution in progressing age-related macular degeneration (AMD) …
Charles Bonnet syndrome.
Stojanov O. Stojanov O. Vojnosanit Pregl. 2016 Sep;73(9):881-4. doi: 10.2298/VSP150321140S. Vojnosanit Pregl. 2016. PMID: 29320624
The condition is present in patients who have visual loss due to age-related macular degeneration (AMD), cataracts and/or other ocular diseases that influence vision. ...
The condition is present in patients who have visual loss due to age-related macular degeneration (AMD), cataracts and/or othe …
Vitelliform maculopathy: Diverse etiologies originating from one common pathway.
Iovino C, Ramtohul P, Au A, Romero-Morales V, Sadda S, Freund KB, Sarraf D. Iovino C, et al. Surv Ophthalmol. 2023 May-Jun;68(3):361-379. doi: 10.1016/j.survophthal.2023.01.009. Epub 2023 Jan 30. Surv Ophthalmol. 2023. PMID: 36720370 Review.
In younger patients, VLs usually occur in the setting of Best disease. Additional genetic causes of VL include pattern dystrophy or adult-onset vitelliform macular dystrophy. In older patients, acquired VLs can be associated with a broad spectrum of et …
In younger patients, VLs usually occur in the setting of Best disease. Additional genetic causes of VL include pattern dystrophy …
Lipid metabolism and retinal diseases.
Gabrielle PH. Gabrielle PH. Acta Ophthalmol. 2022 Sep;100 Suppl 269:3-43. doi: 10.1111/aos.15226. Acta Ophthalmol. 2022. PMID: 36117363 Free article.
The current research challenge is to better understand lipid-related mechanisms involved in retinal diseases, such as age-related macular degeneration (AMD) and glaucoma. RESULTS: In a first axis, in vitro and focus on Muller glial cell, we aimed to characterize whe …
The current research challenge is to better understand lipid-related mechanisms involved in retinal diseases, such as age-related macular …
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M. Georgiou M, et al. Ophthalmology. 2022 May;129(5):542-551. doi: 10.1016/j.ophtha.2021.11.019. Epub 2021 Nov 23. Ophthalmology. 2022. PMID: 34822951 Free article.
Funduscopy findings were symmetric in 104 patients (104/108 [96.3%]), with the most common finding being macular schisis (82.4%), whereas peripheral retinoschisis was present in 38.9% and macular atrophy was present in 11.1%. ...CONCLUSIONS: X-linked retinoschisis i …
Funduscopy findings were symmetric in 104 patients (104/108 [96.3%]), with the most common finding being macular schisis (82.4%), whe …
PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
Bianco L, Arrigo A, Antropoli A, Saladino A, Spiga I, Patricelli MG, Bandello F, Carrera P, Battaglia Parodi M. Bianco L, et al. Ophthalmol Retina. 2023 May;7(5):450-461. doi: 10.1016/j.oret.2022.12.008. Epub 2022 Dec 21. Ophthalmol Retina. 2023. PMID: 36563963
PURPOSE: A broad spectrum of autosomal-dominant inherited retinal diseases (IRDs), ranging from mild macular pattern dystrophy to severe cone-rod degeneration, is associated with PRPH2 variants (peripherinopathies). ...Missense variants in the D2 loop …
PURPOSE: A broad spectrum of autosomal-dominant inherited retinal diseases (IRDs), ranging from mild macular pattern dystro …
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M. Georgiou M, et al. Am J Ophthalmol. 2024 Feb;258:119-129. doi: 10.1016/j.ajo.2023.09.025. Epub 2023 Oct 7. Am J Ophthalmol. 2024. PMID: 37806543 Free PMC article.
OCT showed cystoid macular edema at presentation in 3 patients, which persisted during follow-up in 2 patients and resolved to atrophy in the third patient. ...The phenotypic spectrum and natural history as described herein has prognostic and counseling implications …
OCT showed cystoid macular edema at presentation in 3 patients, which persisted during follow-up in 2 patients and resolved to atroph …
478 results