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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 Classification and Management Outcomes of Anterior Segment-Dominated Persistent Fetal Vasculature: The CCPMOH Report.
Chen H, Chen W, Zhou F, Luo C, Lin Z, Li X, Lin Y, Lin H, Chen W
Am J Ophthalmol 2025 Mar;271:316-328. Epub 2024 Dec 7 doi: 10.1016/j.ajo.2024.11.024. PMID: 39647568
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

Recent clinical studies

Etiology

Burden of ocular abnormalities in patients with beta thalassaemia: a cross-sectional study.
Baig R, Zahid N, Kausar F, Qazi HIA, Moiz B, Hussain S, Khan AH, Arain F, Ahmad K
BMJ Open Ophthalmol 2023 Jul;8(1) doi: 10.1136/bmjophth-2023-001293. PMID: 37493812Free 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
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
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
Ocular and Systemic Findings in Adults with Uveal Coloboma.
Daich Varela M, Huryn LA, Hufnagel RB, Zein WM, Blain D, Brooks BP
Ophthalmology 2020 Dec;127(12):1772-1774. Epub 2020 May 17 doi: 10.1016/j.ophtha.2020.05.028. PMID: 32434002Free PMC Article

Diagnosis

Burden of ocular abnormalities in patients with beta thalassaemia: a cross-sectional study.
Baig R, Zahid N, Kausar F, Qazi HIA, Moiz B, Hussain S, Khan AH, Arain F, Ahmad K
BMJ Open Ophthalmol 2023 Jul;8(1) doi: 10.1136/bmjophth-2023-001293. PMID: 37493812Free PMC Article
Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.
Yang JF, Roohipourmoallai R, Straughn PE, Sherwood MB, Agarwal-Sinha S, Zori RT, Iyer SSR
J AAPOS 2021 Oct;25(5):309-311. Epub 2021 Sep 25 doi: 10.1016/j.jaapos.2021.05.014. PMID: 34582953
Axenfeld-Rieger syndrome.
Bengarai W, Chokrani H, Berraho A
J Fr Ophtalmol 2018 May;41(5):470-471. Epub 2018 May 21 doi: 10.1016/j.jfo.2017.10.010. PMID: 29793789
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
Anterior-Segment Ocular Findings and Microphthalmia in Congenital Zika Syndrome.
de Paula Freitas B, Zin A, Ko A, Maia M, Ventura CV, Belfort R Jr
Ophthalmology 2017 Dec;124(12):1876-1878. Epub 2017 Jul 1 doi: 10.1016/j.ophtha.2017.06.009. PMID: 28676282

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
Glaucoma With Crouzon Syndrome.
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Resolution of bilateral ptosis after reduction of unilaterally elevated intraocular pressure in a child with Axenfeld-Reiger spectrum disorder.
Soin K, Levin AV
J AAPOS 2012 Jun;16(3):307-8. doi: 10.1016/j.jaapos.2012.02.012. PMID: 22681953
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

Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.
Procopio R, Pulido JS, Gunton KB, Syed ZA, Lee D, Moster ML, Sergott R, Neidich JA, Reynolds MM
Genes (Basel) 2023 Mar 17;14(3) doi: 10.3390/genes14030738. PMID: 36981008Free PMC Article
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
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 features of capsular glaucoma in comparison with primary open-angle glaucoma in Japan.
Futa R, Shimizu T, Furuyoshi N, Nishiyama M, Hagihara O
Acta Ophthalmol (Copenh) 1992 Apr;70(2):214-9. doi: 10.1111/j.1755-3768.1992.tb04126.x. PMID: 1609570

Clinical prediction guides

Burden of ocular abnormalities in patients with beta thalassaemia: a cross-sectional study.
Baig R, Zahid N, Kausar F, Qazi HIA, Moiz B, Hussain S, Khan AH, Arain F, Ahmad K
BMJ Open Ophthalmol 2023 Jul;8(1) doi: 10.1136/bmjophth-2023-001293. PMID: 37493812Free PMC Article
Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.
Procopio R, Pulido JS, Gunton KB, Syed ZA, Lee D, Moster ML, Sergott R, Neidich JA, Reynolds MM
Genes (Basel) 2023 Mar 17;14(3) doi: 10.3390/genes14030738. PMID: 36981008Free 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
Cataract surgery and intraocular lens implantation in anterior megalophthalmos.
Javadi MA, Jafarinasab MR, Mirdehghan SA
J Cataract Refract Surg 2000 Nov;26(11):1687-90. doi: 10.1016/s0886-3350(00)00444-2. PMID: 11084281

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
Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.
Procopio R, Pulido JS, Gunton KB, Syed ZA, Lee D, Moster ML, Sergott R, Neidich JA, Reynolds MM
Genes (Basel) 2023 Mar 17;14(3) doi: 10.3390/genes14030738. PMID: 36981008Free PMC Article
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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