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[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 …
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 …
[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician].
Bremond-Gignac D, Robert M, Daruich A, Borderie V, Chiambaretta F, Valleix S; Groupe Rédacteur Relecteur PNDS Aniridie. Bremond-Gignac D, et al. J Fr Ophtalmol. 2022 Jun;45(6):647-652. doi: 10.1016/j.jfo.2022.01.005. J Fr Ophtalmol. 2022. PMID: 35667788 Review. French.
Aniridia is a potentially blinding autosomal dominant disease with high penetrance. The prevalence varies from 1/40,000 births to 1/96,000 births. Approximately one third of cases are sporadic. Ocular involvement includes complete or partial absence of iris tissue, …
Aniridia is a potentially blinding autosomal dominant disease with high penetrance. The prevalence varies from 1/40,000 births to …