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Quoted phrase not found in phrase index: "Foveal hypopigmentation"
Page 1
Current and emerging treatments for albinism.
Liu S, Kuht HJ, Moon EH, Maconachie GDE, Thomas MG. Liu S, et al. Surv Ophthalmol. 2021 Mar-Apr;66(2):362-377. doi: 10.1016/j.survophthal.2020.10.007. Epub 2020 Oct 29. Surv Ophthalmol. 2021. PMID: 33129801 Review.
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of the skin and eyes. A wide range of ophthalmic manifestations arise from albinism, including reduction of visual …
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to …
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400) and refractive errors, color v …
Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation …
Clinical phenocopies of albinism.
Dumitrescu AV, Pfeifer WL, Drack AV. Dumitrescu AV, et al. J AAPOS. 2021 Aug;25(4):220.e1-220.e8. doi: 10.1016/j.jaapos.2021.03.015. Epub 2021 Jul 17. J AAPOS. 2021. PMID: 34280564
Presenting clinical features included fair pigmentation of the skin and adnexa (8/8), congenital nystagmus (6/8), decreased visual acuity (8/8), iris transillumination defects (8/8), and foveal hypoplasia (7/8). Of the 8 patients, 4 manifested progressive, preschool-age-on …
Presenting clinical features included fair pigmentation of the skin and adnexa (8/8), congenital nystagmus (6/8), decreased visual acuity (8 …
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
METHODS: We collected clinical, genetic, and electrophysiologic data of patients with albinism. We used grading schemes for iris translucency, fundus hypopigmentation, and foveal hypoplasia. MAIN OUTCOME MEASURES: Visual acuity, nystagmus, iris translucency, fundus …
METHODS: We collected clinical, genetic, and electrophysiologic data of patients with albinism. We used grading schemes for iris translucenc …
Albinism.
Haefemeyer JW, Knuth JL. Haefemeyer JW, et al. J Ophthalmic Nurs Technol. 1991 Mar-Apr;10(2):55-62. J Ophthalmic Nurs Technol. 1991. PMID: 2020024 Review.
Albinism includes a group of genetic disorders with decreased pigmentation. Eye defects include foveal hypoplasia and misrouting of retinal nerve impulses. The primary concerns of those with albinism are low vision and societal misconceptions, which can also lead to social …
Albinism includes a group of genetic disorders with decreased pigmentation. Eye defects include foveal hypoplasia and misrouting of r …
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.
None of the patients had any signs of hypopigmentation of skin and hair. VA in albinism was better (median = 0.5 logMAR, IQR = 0.3-0.7, P 0.006) and the phenotypes were more variable: 14 of 132 without nystagmus, foveal hypoplasia grades 1 to 4, and misrouting absen …
None of the patients had any signs of hypopigmentation of skin and hair. VA in albinism was better (median = 0.5 logMAR, IQR = 0.3-0. …
Altered whole-brain connectivity in albinism.
Welton T, Ather S, Proudlock FA, Gottlob I, Dineen RA. Welton T, et al. Hum Brain Mapp. 2017 Feb;38(2):740-752. doi: 10.1002/hbm.23414. Epub 2016 Sep 29. Hum Brain Mapp. 2017. PMID: 27684406 Free PMC article.
Multiple ocular, white matter and cortical abnormalities occur in albinism, including a greater decussation of nerve fibres at the optic chiasm, foveal hypoplasia and nystagmus. Despite this, visual perception is largely preserved. ...It was proposed that their findings ma …
Multiple ocular, white matter and cortical abnormalities occur in albinism, including a greater decussation of nerve fibres at the optic chi …
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: This is …
Background: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, …
Albinism: classification, clinical characteristics, and recent findings.
Summers CG. Summers CG. Optom Vis Sci. 2009 Jun;86(6):659-62. doi: 10.1097/OPX.0b013e3181a5254c. Optom Vis Sci. 2009. PMID: 19390472 Review.
RESULTS: Albinism is now classified based on genes known to be responsible for albinism. Foveal hypoplasia is invariably present and individuals with albinism often have delayed visual development, reduced vision, nystagmus, a positive angle kappa, strabismus, iris transil …
RESULTS: Albinism is now classified based on genes known to be responsible for albinism. Foveal hypoplasia is invariably present and …
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM, Woertz EN, Wynne N, Brooks BP, Chacon A, Connor TB Jr, Costakos D, Dumitrescu A, Drack AV, Fishman GA, Hauswirth WW, Kay CN, Lam BL, Michaelides M, Pennesi ME, Stepien KE, Strul S, Summers CG, Carroll J. Litts KM, et al. Transl Vis Sci Technol. 2021 May 3;10(6):22. doi: 10.1167/tvst.10.6.22. Transl Vis Sci Technol. 2021. PMID: 34111268 Free PMC article.
Here, we tested whether optical coherence tomography (OCT) measures of foveal structure differed between patients for whom AOSLO images were either quantifiable or unquantifiable. METHODS: The study included 166 subjects (84 with ACHM; 82 with albinism) with previously acq …
Here, we tested whether optical coherence tomography (OCT) measures of foveal structure differed between patients for whom AOSLO imag …
58 results