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Anterior segment anomalies and cataract

MedGen UID:
865188
•Concept ID:
C4016751
•
Finding
Synonym: ANTERIOR SEGMENT ANOMALIES AND CATARACT
 
OMIM®: 601653

Professional guidelines

PubMed

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI
Genet Med 2020 Apr;22(4):745-751. Epub 2019 Dec 18 doi: 10.1038/s41436-019-0722-8. PMID: 31848469Free PMC Article
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N
Clin Genet 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. PMID: 29136273
Management of proliferative diabetic retinopathy.
Gündüz K, Bakri SJ
Compr Ophthalmol Update 2007 Sep-Oct;8(5):245-56. PMID: 18201511

Recent clinical studies

Etiology

Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
Villalba MF, Li CM, Pakravan P, Bademci G, Chang TCP
Am J Ophthalmol 2023 Jul;251:90-103. Epub 2023 Mar 10 doi: 10.1016/j.ajo.2023.02.025. PMID: 36906093Free PMC Article
Findings of ocular examinations in healthy full-term newborns.
Yenice EK, Petriçli İS, Kara C
Arq Bras Oftalmol 2022;87(1):0536. Epub 2022 Jul 18 doi: 10.5935/0004-2749.2021-0536. PMID: 35857993
Anterior segment dysgenesis: Insights into the genetics and pathogenesis.
Kaushik S, Dubey S, Choudhary S, Ratna R, Pandav SS, Khan AO
Indian J Ophthalmol 2022 Jul;70(7):2293-2303. doi: 10.4103/ijo.IJO_3223_21. PMID: 35791109Free PMC Article
Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.
Prem Senthil M, Knight LSW, Taranath D, Mackey DA, Ruddle JB, Chiang MY, Siggs OM, Souzeau E, Craig JE
Cornea 2022 Aug 1;41(8):1009-1015. Epub 2022 Mar 30 doi: 10.1097/ICO.0000000000003020. PMID: 35354164Free PMC Article
The utility of genomic testing in the ophthalmology clinic: A review.
Burdon KP
Clin Exp Ophthalmol 2021 Aug;49(6):615-625. Epub 2021 Jul 23 doi: 10.1111/ceo.13970. PMID: 34231298

Diagnosis

Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.
Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV
Genes (Basel) 2023 Oct 17;14(10) doi: 10.3390/genes14101948. PMID: 37895297Free PMC Article
Anterior segment dysgenesis: Insights into the genetics and pathogenesis.
Kaushik S, Dubey S, Choudhary S, Ratna R, Pandav SS, Khan AO
Indian J Ophthalmol 2022 Jul;70(7):2293-2303. doi: 10.4103/ijo.IJO_3223_21. PMID: 35791109Free PMC Article
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.
Ahmed MR, Sethna S, Krueger LA, Yang MB, Hufnagel RB
Genes (Basel) 2022 Feb 24;13(3) doi: 10.3390/genes13030411. PMID: 35327965Free PMC Article
Anterior Segment Imaging Devices in Ophthalmic Telemedicine.
Armstrong GW, Kalra G, De Arrigunaga S, Friedman DS, Lorch AC
Semin Ophthalmol 2021 May 19;36(4):149-156. Epub 2021 Mar 3 doi: 10.1080/08820538.2021.1887899. PMID: 33656960
Posterior keratoconus.
Silas MR, Hilkert SM, Reidy JJ, Farooq AV
Br J Ophthalmol 2018 Jul;102(7):863-867. Epub 2017 Nov 9 doi: 10.1136/bjophthalmol-2017-311097. PMID: 29122822

Therapy

When the savior becomes a demon: Silicon oil synechia-induced glaucoma.
Agarwal A, Narang P, Narang R
Indian J Ophthalmol 2022 Oct;70(10):3745-3746. doi: 10.4103/ijo.IJO_1630_22. PMID: 36190103Free PMC Article
Ophthalmological assessment of crizotinib in advanced non-small-cell lung cancer.
Solomon BJ, Kim EE, Winter M, Monti K, Tang Y, Wilner KD, Wang S, Ou SI
Lung Cancer 2020 Jul;145:167-172. Epub 2020 Apr 28 doi: 10.1016/j.lungcan.2020.04.010. PMID: 32460197
Glaucoma With Crouzon Syndrome.
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Visual acuity and anterior segment findings in chronic graft-versus-host disease.
Allan EJ, Flowers ME, Lin MP, Bensinger RE, Martin PJ, Wu MC
Cornea 2011 Dec;30(12):1392-7. doi: 10.1097/ICO.0b013e31820ce6d0. PMID: 21996943
Experimental models of anterior segment dysgenesis.
Cook CS
Ophthalmic Paediatr Genet 1989 Mar;10(1):33-46. doi: 10.3109/13816818909083771. PMID: 2662095

Prognosis

Clinical and molecular aspects of congenital aniridia - A review of current concepts.
Tibrewal S, Ratna R, Gour A, Agarkar S, Dubey S, Ganesh S, Kekunnaya R, Sangwan V, Liu Y, Vanita V
Indian J Ophthalmol 2022 Jul;70(7):2280-2292. doi: 10.4103/ijo.IJO_2255_21. PMID: 35791108Free PMC Article
The utility of genomic testing in the ophthalmology clinic: A review.
Burdon KP
Clin Exp Ophthalmol 2021 Aug;49(6):615-625. Epub 2021 Jul 23 doi: 10.1111/ceo.13970. PMID: 34231298
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A
Eur J Hum Genet 2015 Mar;23(3):337-41. Epub 2014 Jun 18 doi: 10.1038/ejhg.2014.119. PMID: 24939590Free PMC Article
Anterior segment complications after phacovitrectomy in diabetic and nondiabetic patients.
Pinarci EY, Bayar SA, Sizmaz S, Yesilirmak N, Akkoyun I, Yilmaz G
Eur J Ophthalmol 2013 Mar-Apr;23(2):223-9. doi: 10.5301/ejo.5000203. PMID: 23065855
The tubulointerstitial nephritis and uveitis syndrome.
Mandeville JT, Levinson RD, Holland GN
Surv Ophthalmol 2001 Nov-Dec;46(3):195-208. doi: 10.1016/s0039-6257(01)00261-2. PMID: 11738428

Clinical prediction guides

Ocular abnormalities in children with developmental delay.
Kavitha V, Gangrade AK, Heralgi MM, Haragoppa S
Indian J Ophthalmol 2023 Oct;71(10):3328-3334. doi: 10.4103/IJO.IJO_3358_22. PMID: 37787230Free PMC Article
Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
Villalba MF, Li CM, Pakravan P, Bademci G, Chang TCP
Am J Ophthalmol 2023 Jul;251:90-103. Epub 2023 Mar 10 doi: 10.1016/j.ajo.2023.02.025. PMID: 36906093Free PMC Article
Glaucoma With Crouzon Syndrome.
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A
Eur J Hum Genet 2015 Mar;23(3):337-41. Epub 2014 Jun 18 doi: 10.1038/ejhg.2014.119. PMID: 24939590Free PMC Article
Anterior chamber abnormalities and cataract.
Kuhn F, Mester V
Ophthalmol Clin North Am 2002 Jun;15(2):195-203. doi: 10.1016/s0896-1549(02)00010-x. PMID: 12229236

Recent systematic reviews

Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
Chen ZX, Jia WN, Sun Y, Chen TH, Zhao ZN, Lan LN, Liu Y, Song LH, Jiang YX
Hum Mutat 2022 Dec;43(12):2141-2152. Epub 2022 Oct 17 doi: 10.1002/humu.24483. PMID: 36208099
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A
Eur J Med Genet 2021 Jun;64(6):104210. Epub 2021 Mar 30 doi: 10.1016/j.ejmg.2021.104210. PMID: 33794347

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