Genetics of the Anterior Segment Dysgenesis

Overview

Journal Taiwan J Ophthalmol

Specialty Ophthalmology

Date 2024 Jan 22

PMID 38249510

Authors

Diego I Paredes

Jenina E Capasso

Celeste S Wyman

Alex V Levin

Affiliations

Soon will be listed here.

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.

Citing Articles

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.

Hussain A, Villalba M, Swols D, Khzam R, Johnson B, Peart L Sci Rep. 2025; 15(1):518.

PMID: 39747279 PMC: 11695809. DOI: 10.1038/s41598-024-84205-6.

References

Stone E, Andorf J, Whitmore S, DeLuca A, Giacalone J, Streb L . Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. 2017; 124(9):1314-1331. PMC: 5565704. DOI: 10.1016/j.ophtha.2017.04.008. View

Lingam G, Sen A, Lingam V, Bhende M, Padhi T, Xinyi S . Ocular coloboma-a comprehensive review for the clinician. Eye (Lond). 2021; 35(8):2086-2109. PMC: 8302742. DOI: 10.1038/s41433-021-01501-5. View

Varela M, Huryn L, Hufnagel R, Zein W, Blain D, Brooks B . Ocular and Systemic Findings in Adults with Uveal Coloboma. Ophthalmology. 2020; 127(12):1772-1774. PMC: 7669665. DOI: 10.1016/j.ophtha.2020.05.028. View

Chaurasia S, Jakati S, Ramappa M, Mishra D, Edward D . Anterior segment alterations in congenital primary aphakia-a clinicopathologic report of five cases. Indian J Ophthalmol. 2020; 68(8):1564-1568. PMC: 7640842. DOI: 10.4103/ijo.IJO_2078_19. View

Nascimento E Silva R, Shen L, Chiou C, Shanbhag S, Paschalis E, Pasquale L . Glaucoma Management in Patients With Aniridia and Boston Type 1 Keratoprosthesis. Am J Ophthalmol. 2019; 207:258-267. DOI: 10.1016/j.ajo.2019.06.018. View

Laaks D, Freeman N . Congenital iris ectropion uveae presenting with glaucoma in infancy. J AAPOS. 2013; 17(2):214-6. DOI: 10.1016/j.jaapos.2012.11.010. View

Sahin B, Seymenoglu G, Baser E . Cornea plana associated with open-angle glaucoma: a case report. Int Ophthalmol. 2011; 31(6):505-8. DOI: 10.1007/s10792-011-9490-4. View

Arcot Sadagopan K, Liu G, Capasso J, Wuthisiri W, Keep R, Levin A . Anirdia-like phenotype caused by 6p25 dosage aberrations. Am J Med Genet A. 2015; 167A(3):524-8. DOI: 10.1002/ajmg.a.36890. View

Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro D . Peters anomaly: review of the literature. Cornea. 2011; 30(8):939-44. DOI: 10.1097/ICO.0b013e31820156a9. View

10.

Lim H, Kim D, Kim H . PAX6 aniridia syndrome: clinics, genetics, and therapeutics. Curr Opin Ophthalmol. 2017; 28(5):436-447. DOI: 10.1097/ICU.0000000000000405. View

11.

Solheim M, Clermont A, Winnay J, Hallstensen E, Molven A, Njolstad P . Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. Invest Ophthalmol Vis Sci. 2017; 58(7):3100-3106. PMC: 5482242. DOI: 10.1167/iovs.16-21347. View

12.

Beebe D, Coats J . The lens organizes the anterior segment: specification of neural crest cell differentiation in the avian eye. Dev Biol. 2001; 220(2):424-31. DOI: 10.1006/dbio.2000.9638. View

13.

Reis L, Semina E . Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol. 2011; 22(5):314-24. PMC: 3558283. DOI: 10.1097/ICU.0b013e328349412b. View

14.

Capasso J . The cost of genetic testing for ocular disease: who pays?. Curr Opin Ophthalmol. 2014; 25(5):394-9. DOI: 10.1097/ICU.0000000000000085. View

15.

Alward W, Semina E, Kalenak J, Heon E, Sheth B, Stone E . Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol. 1998; 125(1):98-100. DOI: 10.1016/s0002-9394(99)80242-6. View

16.

Badakere S, Aulakh S, Ramya Achanta D, Chary R, Senthil S, Chaurasia S . Secondary developmental glaucoma in eyes with congenital aphakia. Indian J Ophthalmol. 2022; 70(3):834-836. PMC: 9114612. DOI: 10.4103/ijo.IJO_1782_21. View

17.

Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y . Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. Invest Ophthalmol Vis Sci. 2023; 64(3):19. PMC: 10010443. DOI: 10.1167/iovs.64.3.19. View

18.

Reis L, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S . Axenfeld-Rieger syndrome: more than meets the eye. J Med Genet. 2022; 60(4):368-379. PMC: 9912354. DOI: 10.1136/jmg-2022-108646. View

19.

Lin Z, Li J, Ye L, Sun H, Yu A, Chen S . Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome. BMC Ophthalmol. 2022; 22(1):70. PMC: 8840263. DOI: 10.1186/s12886-022-02291-4. View

20.

Kohut T, Gilbert M, Loomes K . Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment. Semin Liver Dis. 2021; 41(4):525-537. DOI: 10.1055/s-0041-1730951. View