Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Jul 18;13(4):500-504.
doi: 10.4103/tjo.TJO-D-23-00062. eCollection 2023 Oct-Dec.

Genetics of the anterior segment dysgenesis

Diego I Paredes  1   2 , Jenina E Capasso  1   3 , Celeste S Wyman  1   3 , Alex V Levin  1   3
Affiliations
Review

Genetics of the anterior segment dysgenesis

Diego I Paredes et al. Taiwan J Ophthalmol. .

Abstract

The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including primary congenital aphakia, Peters sequence, aniridia, and Axenfeld-Rieger spectrum. These conditions can have overlapping phenotypes and both genotypic and phenotypic heterogeneity. This article provides a strategy for both phenotyping and then genotyping using a targeted stepwise approach.

Keywords: Anterior segment mesenchymal dysgenesis; cornea; lens.

PubMed Disclaimer

Conflict of interest statement

The authors declare that there are no conflicts of interests of this paper.

Figures

Figure 1
Figure 1
Diagnostic algorithm for phenotyping and genotyping anterior segment dysgeneses. Most frequent genes indicated
See this image and copyright information in PMC

References

    1. Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology. 2017;124:1314–31. - PMC - PubMed
    1. Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S. Ocular coloboma-a comprehensive review for the clinician. Eye (Lond) 2021;35:2086–109. - PMC - PubMed
    1. Khan AO, Aldahmesh M, Meyer B. Recessive cornea Plana in the Kingdom of Saudi Arabia. Ophthalmology. 2006;113:1773–8. - PubMed
    1. Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ. Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. Mol Vis. 2008;14:2010–5. - PMC - PubMed
    1. Laaks D, Freeman N. Congenital iris ectropion uveae presenting with glaucoma in infancy. J AAPOS. 2013;17:214–6. - PubMed