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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1984 1
1999 1
2002 2
2005 1
2007 1
2013 1
2014 1
2016 2
2019 4
2020 2
2022 3
2023 3
2024 0

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21 results

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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. ...Clinical manifestations include various degrees of congenital nystagmus, iris hypopi …
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.
Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). This is a characteristic feature for example in albinism, aniridia, prematurity, foveal hypoplasia with optic nerve decussation defects with or without anterior …
Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). This is a characteristic feature f …
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 …
[Congenital aniridia in children].
Bremond-Gignac D. Bremond-Gignac D. Rev Prat. 2019 Jan;69(1):67-70. Rev Prat. 2019. PMID: 30983291 Review. French.
Clinical signs in children are essentially photophobia and nystagmus. The prevalence was reported range from 1:40,000 births to 1:100,000 but may be underestimated. It can also be associated with other systemic disorders then constituting a syndromic aniridia. ...Co …
Clinical signs in children are essentially photophobia and nystagmus. The prevalence was reported range from 1:40,000 births to 1 …
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 …
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. . …
[Advances in research of synergistic divergence].
Chen LP, Hao R, Zhang W. Chen LP, et al. Zhonghua Yan Ke Za Zhi. 2019 Jan 11;55(1):63-67. doi: 10.3760/cma.j.issn.0412-4081.2019.01.015. Zhonghua Yan Ke Za Zhi. 2019. PMID: 30641676 Review. Chinese.
The ocular associations reported with synergistic divergence are uncommon and include Horner syndrome, ocular albinism, foveal hypoplasia, Goldenhar syndrome and pupillary abnormalities. ...
The ocular associations reported with synergistic divergence are uncommon and include Horner syndrome, ocular albinism, foveal hyp …
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 …
21 results