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Quoted phrase not found in phrase index: "Foveal hypoplasia 1"
Page 1
Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I. Thomas MG, et al. Br J Ophthalmol. 2022 May;106(5):593-599. doi: 10.1136/bjophthalmol-2020-316348. Epub 2020 Nov 4. Br J Ophthalmol. 2022. PMID: 33148537 Review.
Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). ...The outer segment thickness is a surrogate marker for cone density and in foveal hypoplasia this correlates strongly with visual acuity. In preverbal childre …
Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). ...The outer segment thickness is …
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. ...The defined time period of foveal developmental arrest for OCA and PAX6 variants seems to demonstrate more variability. ...
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational s …
Vascular dysfunction in retinitis pigmentosa.
Lang M, Harris A, Ciulla TA, Siesky B, Patel P, Belamkar A, Mathew S, Verticchio Vercellin AC. Lang M, et al. Acta Ophthalmol. 2019 Nov;97(7):660-664. doi: 10.1111/aos.14138. Epub 2019 May 17. Acta Ophthalmol. 2019. PMID: 31099494 Free article. Review.
While significant evidence supports the theory that vascular dysfunction is associated with but not the cause of PR death in retinitis pigmentosa, evidence suggests that vascular abnormalities in the foveal and parafoveal regions may exacerbate cone cell loss. ...De …
While significant evidence supports the theory that vascular dysfunction is associated with but not the cause of PR death in retinitis pigme …
Nystagmus associated with macular dysplasia.
Wang FB. Wang FB. Strabismus. 2020 Mar;28(1):17-19. doi: 10.1080/09273972.2019.1668028. Epub 2019 Sep 30. Strabismus. 2020. PMID: 31566469
When the pit was not clearly presented, SD-OCT imaging was centered at the expected foveal center.Results: In cases of oculocutaneous albinism SD-OCT showed the absence of the foveal pit and increased foveal thickness, with nystagmus. ...SD-OCT in congenital …
When the pit was not clearly presented, SD-OCT imaging was centered at the expected foveal center.Results: In cases of oculocutaneous …
The Phenotypic Spectrum of Albinism.
Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM. Kruijt CC, et al. Ophthalmology. 2018 Dec;125(12):1953-1960. doi: 10.1016/j.ophtha.2018.08.003. Epub 2018 Aug 8. Ophthalmology. 2018. PMID: 30098354
We used grading schemes for iris translucency, fundus hypopigmentation, and foveal hypoplasia. MAIN OUTCOME MEASURES: Visual acuity, nystagmus, iris translucency, fundus pigmentation, foveal hypoplasia, and misrouting. ...The VA varied from -0.1 to 1.3 …
We used grading schemes for iris translucency, fundus hypopigmentation, and foveal hypoplasia. MAIN OUTCOME MEASURES: Visual a …
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
Ehrenberg M, Bagdonite-Bejarano L, Fulton AB, Orenstein N, Yahalom C. Ehrenberg M, et al. Ophthalmic Genet. 2021 Jun;42(3):243-251. doi: 10.1080/13816810.2021.1888128. Epub 2021 Feb 17. Ophthalmic Genet. 2021. PMID: 33594928
Background: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, with normal ocular pigmentation (absence of diffuse transillumination or transparent retinal pigment typical for albinism).Methods: …
Background: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal …
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M. Kumaran N, et al. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. Invest Ophthalmol Vis Sci. 2020. PMID: 32347917 Free PMC article.
RESULTS: We identified structural interocular symmetry, the presence of autofluorescence in 46% (12/26) of subjects, and the presence of foveal hypoplasia (associated with significantly worse BCVA) in 50% of subjects. ...CONCLUSIONS: We identified the presence of au …
RESULTS: We identified structural interocular symmetry, the presence of autofluorescence in 46% (12/26) of subjects, and the presence of …
Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
Daruich A, Robert MP, Leroy C, DE Vergnes N, Beugnet C, Malan V, Valleix S, Bremond-Gignac D. Daruich A, et al. Am J Ophthalmol. 2022 May;237:122-129. doi: 10.1016/j.ajo.2021.12.007. Epub 2021 Dec 20. Am J Ophthalmol. 2022. PMID: 34942114 Free article.
Patients with missense mutations presented with variable degree of foveal hypoplasia. The degree of foveal hypoplasia was most frequently correlated with the severity of iris defects, with 95% of eyes with complete aniridia presenting grade 3 or 4 f …
Patients with missense mutations presented with variable degree of foveal hypoplasia. The degree of foveal hypoplasi …
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM. Kruijt CC, et al. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. Invest Ophthalmol Vis Sci. 2022. PMID: 35029636 Free PMC article.
PURPOSE: The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussation defect, and Anterior segment abnormalities (FHONDA syndrome), to describe the phenotypic spectrum, and to compare it to albinism …
PURPOSE: The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussa …
Macular Abnormalities Associated With 5alpha-Reductase Inhibitor.
Shin YK, Lee GW, Kang SW, Kim SJ, Kim AY. Shin YK, et al. JAMA Ophthalmol. 2020 Jul 1;138(7):732-739. doi: 10.1001/jamaophthalmol.2020.1279. JAMA Ophthalmol. 2020. PMID: 32379286 Free PMC article.
MAIN OUTCOMES AND MEASURES: Clinical data and multimodal imaging findings and the proportion of 5-ARI users. RESULTS: Among 31 male patients with foveal cavitation, 5-ARI was used for 10 of 14 patients (71.4%) with macular abnormalities of unknown origin and for 2 o …
MAIN OUTCOMES AND MEASURES: Clinical data and multimodal imaging findings and the proportion of 5-ARI users. RESULTS: Among 31 male patients …
113 results