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Foveal hypoplasia 1 with or without anterior segment anomalies

MedGen UID:
866094
•Concept ID:
C4017657
•
Finding
Synonym: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
 
OMIM®: 607108

Professional guidelines

PubMed

Myocardial Bridging: Diagnosis, Functional Assessment, and Management: JACC State-of-the-Art Review.
Sternheim D, Power DA, Samtani R, Kini A, Fuster V, Sharma S
J Am Coll Cardiol 2021 Nov 30;78(22):2196-2212. doi: 10.1016/j.jacc.2021.09.859. PMID: 34823663
Anterior segment optical coherence tomography in pupillary seclusion diagnosis and follow-up.
Izquierdo-Serra J, Figueroa-Vercellino JP, Dotti-Boada M, Ventura-Abreu N, Pazos M
Arq Bras Oftalmol 2020 Nov-Dec;83(6):571-572. doi: 10.5935/0004-2749.20200113. PMID: 33470290
Alagille syndrome: pathogenesis, diagnosis and management.
Turnpenny PD, Ellard S
Eur J Hum Genet 2012 Mar;20(3):251-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.181. PMID: 21934706Free PMC Article

Recent clinical studies

Etiology

Anterior open bite - diagnostics and therapy.
Michl P, Broniš T, Jurásková Sedlatá E, Heinz P, Pink R, Šebek J, Mottl R, Dvořák Z, Tvrdý P
Acta Chir Plast 2021 Winter;63(4):181-184. doi: 10.48095/ccachp2021181. PMID: 35042361
Corneal Remodeling in Peters Anomaly.
Snehi S, Gupta G, Kaushik S
Ophthalmology 2021 Feb;128(2):287. doi: 10.1016/j.ophtha.2020.09.034. PMID: 33485476
Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.
Chrystal PW, Walter MA
Exp Eye Res 2019 Dec;189:107815. Epub 2019 Sep 24 doi: 10.1016/j.exer.2019.107815. PMID: 31560925
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Anterior segment dysgenesis.
Stahl ED
Int Ophthalmol Clin 2014 Summer;54(3):95-104. doi: 10.1097/IIO.0000000000000031. PMID: 24879108

Diagnosis

Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV
J Med Genet 2023 Apr;60(4):368-379. Epub 2022 Jul 26 doi: 10.1136/jmg-2022-108646. PMID: 35882526Free PMC Article
Peters Anomaly.
Zhang Z, Syed NA, Alward WLM
Ophthalmol Glaucoma 2019 Jul-Aug;2(4):266. doi: 10.1016/j.ogla.2019.03.005. PMID: 32672549
Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.
Chrystal PW, Walter MA
Exp Eye Res 2019 Dec;189:107815. Epub 2019 Sep 24 doi: 10.1016/j.exer.2019.107815. PMID: 31560925
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Alagille syndrome: pathogenesis, diagnosis and management.
Turnpenny PD, Ellard S
Eur J Hum Genet 2012 Mar;20(3):251-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.181. PMID: 21934706Free PMC Article

Therapy

Treatment of Recalcitrant Cyclitic Neovascular Pupillary Membranes.
Spratt A, Blieden LS, Dubovy SR, Berrocal A, Lee RK
J Glaucoma 2017 Apr;26(4):e160-e162. doi: 10.1097/IJG.0000000000000543. PMID: 27571445
Congenital hypothyroidism in Rieger Syndrome.
Örnek N, Oğurel R, Örnek K
Ophthalmic Genet 2016;37(1):86-8. Epub 2014 Mar 25 doi: 10.3109/13816810.2014.902079. PMID: 24666291
Methemoglobinemia in a newborn: a case report.
Bayat A, Kosinski RW
Pediatr Dent 2011 May-Jun;33(3):252-4. PMID: 21703079
Pseudoexfoliation syndrome and pseudoexfoliative glaucoma.
Sowka J
Optometry 2004 Apr;75(4):245-50. doi: 10.1016/s1529-1839(04)70052-4. PMID: 15117058
Keratoglobus.
Cameron JA
Cornea 1993 Mar;12(2):124-30. doi: 10.1097/00003226-199303000-00006. PMID: 8500319

Prognosis

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I
Br J Ophthalmol 2022 May;106(5):593-599. Epub 2020 Nov 4 doi: 10.1136/bjophthalmol-2020-316348. PMID: 33148537
Anterior open bite - diagnostics and therapy.
Michl P, Broniš T, Jurásková Sedlatá E, Heinz P, Pink R, Šebek J, Mottl R, Dvořák Z, Tvrdý P
Acta Chir Plast 2021 Winter;63(4):181-184. doi: 10.48095/ccachp2021181. PMID: 35042361
Corneal Remodeling in Peters Anomaly.
Snehi S, Gupta G, Kaushik S
Ophthalmology 2021 Feb;128(2):287. doi: 10.1016/j.ophtha.2020.09.034. PMID: 33485476
Pediatric spinal deformities.
Wiggins GC, Shaffrey CI, Abel MF, Menezes AH
Neurosurg Focus 2003 Jan 15;14(1):e3. doi: 10.3171/foc.2003.14.1.4. PMID: 15766220

Clinical prediction guides

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I
Br J Ophthalmol 2022 May;106(5):593-599. Epub 2020 Nov 4 doi: 10.1136/bjophthalmol-2020-316348. PMID: 33148537
Fox's in development and disease.
Lehmann OJ, Sowden JC, Carlsson P, Jordan T, Bhattacharya SS
Trends Genet 2003 Jun;19(6):339-44. doi: 10.1016/S0168-9525(03)00111-2. PMID: 12801727
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article
A common pathway for developmental glaucomas.
Shields MB
Trans Am Ophthalmol Soc 1987;85:222-37. PMID: 3328916Free PMC Article

Recent systematic reviews

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 variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma.
Li X, Sun W, Xiao X, Fang L, Li S, Liu X, Zhang Q
Br J Ophthalmol 2022 Dec;106(12):1710-1715. Epub 2021 Jun 21 doi: 10.1136/bjophthalmol-2020-318668. PMID: 34154991
A systematic review of ultrasound biomicroscopy use in pediatric ophthalmology.
Alexander JL, Wei L, Palmer J, Darras A, Levin MR, Berry JL, Ludeman E
Eye (Lond) 2021 Jan;35(1):265-276. Epub 2020 Sep 22 doi: 10.1038/s41433-020-01184-4. PMID: 32963311Free PMC Article
PLATEAU IRIS--DIAGNOSIS AND TREATMENT.
Stefan C, Iliescu DA, Batras M, Timaru CM, De Simone A
Rom J Ophthalmol 2015 Jan-Mar;59(1):14-8. PMID: 27373109Free PMC Article
Cerebral aneurysms with intrasellar extension: a systematic review of clinical, anatomical, and treatment characteristics.
Hanak BW, Zada G, Nayar VV, Thiex R, Du R, Day AL, Laws ER
J Neurosurg 2012 Jan;116(1):164-78. Epub 2011 Nov 4 doi: 10.3171/2011.9.JNS11380. PMID: 22054212

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