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2025 3

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Page 1
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.
The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a compl …
The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting th …
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.
The maturity of the fovea can be assessed invivo using optical coherence tomography, which in normal development would show a well-developed foveal pit, extrusion of IRLs, thickened outer nuclear layer and long outer segments. Developmental abnormalities of various …
The maturity of the fovea can be assessed invivo using optical coherence tomography, which in normal development would show a well-developed …
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. Addit …
While significant evidence supports the theory that vascular dysfunction is associated with but not the cause of PR death in retinitis pigme …
A review of the clinical and genetic aspects of aniridia.
Lee HJ, Colby KA. Lee HJ, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):306-12. doi: 10.3109/08820538.2013.825293. Semin Ophthalmol. 2013. PMID: 24138039 Review.
Aniridia classically presents with a bilateral congenital absence or malformation of the irides, foveal hypoplasia, and nystagmus, and patients tend to develop visually significant pre-senile cataracts and keratopathy. ...The current treatments for AAK are to replac …
Aniridia classically presents with a bilateral congenital absence or malformation of the irides, foveal hypoplasia, and nystag …
Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations.
Matsushita I, Morita H, Kondo H. Matsushita I, et al. Jpn J Ophthalmol. 2020 Nov;64(6):635-641. doi: 10.1007/s10384-020-00766-9. Epub 2020 Aug 28. Jpn J Ophthalmol. 2020. PMID: 32857266 Review.
PURPOSE: Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated disease entity, FVH1 does not include ocular disorders such as aniridia, microphthalmia, albinism, and achromatopsia. However, it only …
PURPOSE: Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isol …
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D, Arno G, Corton M, Moosajee M. Lima Cunha D, et al. Genes (Basel). 2019 Dec 17;10(12):1050. doi: 10.3390/genes10121050. Genes (Basel). 2019. PMID: 31861090 Free PMC article. Review.
There are more than 500 different mutations described to affect PAX6 and its regulatory regions, the majority of which lead to PAX6 haploinsufficiency, causing several ocular and systemic abnormalities. Aniridia is an autosomal dominant disorder that is marked by the compl …
There are more than 500 different mutations described to affect PAX6 and its regulatory regions, the majority of which lead to PAX6 haploins …
[Ocular alterations in patients with Alport syndrome-An update].
Pfau K, Gross O, Bemme S, Meyer P, Take P, Boeckhaus J, Holz FG, Feltgen N. Pfau K, et al. Ophthalmologie. 2023 Jun;120(6):645-651. doi: 10.1007/s00347-022-01805-1. Epub 2023 Feb 8. Ophthalmologie. 2023. PMID: 36752793 Review. German.
Specifically, posterior polymorphic corneal dystrophy, anterior lenticonus (pathognomonic for AS), and various retinal changes have been described, which have been further characterized in recent years by newer imaging techniques. In particular, foveal changes in AS may pr …
Specifically, posterior polymorphic corneal dystrophy, anterior lenticonus (pathognomonic for AS), and various retinal changes have been des …
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
Oetting WS. Oetting WS. Hum Mutat. 2002 Feb;19(2):85-92. doi: 10.1002/humu.10034. Hum Mutat. 2002. PMID: 11793467 Review.
Albinism ocular type 1 (OA1) is an X-linked type of albinism that mainly effects pigment production in the eye, resulting in hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers, and reduced visual ac …
Albinism ocular type 1 (OA1) is an X-linked type of albinism that mainly effects pigment production in the eye, resulting in hypopigm …
A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1).
Boye SE. Boye SE. Adv Exp Med Biol. 2016;854:253-8. doi: 10.1007/978-3-319-17121-0_34. Adv Exp Med Biol. 2016. PMID: 26427419 Review.
GUCY2D encodes retinal guanylate cylase-1 (retGC1), a protein that plays a pivotal role in the recovery phase of phototransduction. ...Patients present within the first year of life with aberrant or unrecordable electroretinogram (ERG), nystagmus and a relatively normal fu …
GUCY2D encodes retinal guanylate cylase-1 (retGC1), a protein that plays a pivotal role in the recovery phase of phototransduction. . …
Novel pathogenic variants of SLC38A8 gene and literature review.
Ren X, Huang L, Cheng S, Wang J, Li N. Ren X, et al. Eur J Ophthalmol. 2024 Nov;34(6):1740-1749. doi: 10.1177/11206721241242155. Epub 2024 Mar 22. Eur J Ophthalmol. 2024. PMID: 38515398 Review.
PURPOSE: This study aimed to analyze the clinical and genetic characteristics of 6 Chinese patients with foveal hypoplasia (FH) caused by the variants of solute carrier family 38 member 8 (SLC38A8), and to describe the genotype and phenotype of SLC38A8 variants from …
PURPOSE: This study aimed to analyze the clinical and genetic characteristics of 6 Chinese patients with foveal hypoplasia (FH …
25 results