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Foveal hypoplasia 1 with cataract

MedGen UID:
865504
•Concept ID:
C4017067
•
Finding
Synonym: FOVEAL HYPOPLASIA 1 WITH CATARACT
 
OMIM®: 607108

Professional guidelines

PubMed

A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.
Yu Y, Jia H, Ma Q, Zhang R, Jiao Y
BMC Ophthalmol 2023 Aug 8;23(1):349. doi: 10.1186/s12886-023-03054-5. PMID: 37553561Free PMC Article
Novel Triamcinolone Acetonide-Loaded Liposomes Topical Formulation for the Treatment of Cystoid Macular Edema After Cataract Surgery: A Pilot Study.
Gonzalez-De la Rosa A, Navarro-Partida J, Altamirano-Vallejo JC, Hernandez-Gamez AG, Garcia-Bañuelos JJ, Armendariz-Borunda J, Santos A
J Ocul Pharmacol Ther 2019 Mar;35(2):106-115. Epub 2019 Jan 7 doi: 10.1089/jop.2018.0101. PMID: 30614750Free PMC Article
Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype.
Zhang X, Zhang Q, Tong Y, Dai H, Zhao X, Bai F, Xu L, Li Y
Mol Vis 2011 Feb 19;17:548-57. PMID: 21364908Free PMC Article

Recent clinical studies

Etiology

An anomalous foveal OCT-sign after posterior capsule rupture in cataract surgery: Complicated cataract surgery maculopathy.
Talli PM, Pedrotti E, Sacconi R, Monterosso C, Caretti L
Eur J Ophthalmol 2021 Nov;31(6):NP41-NP44. Epub 2020 Jun 21 doi: 10.1177/1120672120937661. PMID: 32567366
Clinical manifestations of congenital aniridia.
Singh B, Mohamed A, Chaurasia S, Ramappa M, Mandal AK, Jalali S, Sangwan VS
J Pediatr Ophthalmol Strabismus 2014 Jan-Feb;51(1):59-62. Epub 2014 Jan 3 doi: 10.3928/01913913-20131223-01. PMID: 24369682
A review of the clinical and genetic aspects of aniridia.
Lee HJ, Colby KA
Semin Ophthalmol 2013 Sep-Nov;28(5-6):306-12. doi: 10.3109/08820538.2013.825293. PMID: 24138039
Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study.
Gramer E, Reiter C, Gramer G
Eur J Ophthalmol 2012 Jan-Feb;22(1):104-10. doi: 10.5301/EJO.2011.8318. PMID: 22167549
Ocular and systemic findings in a survey of aniridia subjects.
Netland PA, Scott ML, Boyle JW 4th, Lauderdale JD
J AAPOS 2011 Dec;15(6):562-6. doi: 10.1016/j.jaapos.2011.07.009. PMID: 22153401

Diagnosis

A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.
Yu Y, Jia H, Ma Q, Zhang R, Jiao Y
BMC Ophthalmol 2023 Aug 8;23(1):349. doi: 10.1186/s12886-023-03054-5. PMID: 37553561Free PMC Article
Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations.
Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I
Eur J Hum Genet 2014 Mar;22(3):344-9. Epub 2013 Aug 14 doi: 10.1038/ejhg.2013.162. PMID: 23942204Free PMC Article
Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study.
Gramer E, Reiter C, Gramer G
Eur J Ophthalmol 2012 Jan-Feb;22(1):104-10. doi: 10.5301/EJO.2011.8318. PMID: 22167549
Ocular and systemic findings in a survey of aniridia subjects.
Netland PA, Scott ML, Boyle JW 4th, Lauderdale JD
J AAPOS 2011 Dec;15(6):562-6. doi: 10.1016/j.jaapos.2011.07.009. PMID: 22153401

Therapy

An anomalous foveal OCT-sign after posterior capsule rupture in cataract surgery: Complicated cataract surgery maculopathy.
Talli PM, Pedrotti E, Sacconi R, Monterosso C, Caretti L
Eur J Ophthalmol 2021 Nov;31(6):NP41-NP44. Epub 2020 Jun 21 doi: 10.1177/1120672120937661. PMID: 32567366
Novel Triamcinolone Acetonide-Loaded Liposomes Topical Formulation for the Treatment of Cystoid Macular Edema After Cataract Surgery: A Pilot Study.
Gonzalez-De la Rosa A, Navarro-Partida J, Altamirano-Vallejo JC, Hernandez-Gamez AG, Garcia-Bañuelos JJ, Armendariz-Borunda J, Santos A
J Ocul Pharmacol Ther 2019 Mar;35(2):106-115. Epub 2019 Jan 7 doi: 10.1089/jop.2018.0101. PMID: 30614750Free PMC Article
Longitudinal study of retinal status using optical coherence tomography after acute onset endophthalmitis following cataract surgery.
Zhou T, Aptel F, Bron AM, Cornut PL, Palombi K, Thuret G, Rouberol F, Creuzot-Garcher C, Chiquet C
Br J Ophthalmol 2017 Sep;101(9):1211-1216. Epub 2017 Jan 24 doi: 10.1136/bjophthalmol-2016-309542. PMID: 28119290

Prognosis

Outcomes of Primary Combined Trabeculotomy and Trabeculectomy in Early-Onset Glaucoma in Children with Congenital Aniridia.
Senthil S, Uche NJ, Mohamed A, Krishnamurthy R, Badakere S, Mandal AK, Garudadari C
Ophthalmol Glaucoma 2021 May-Jun;4(3):305-311. Epub 2020 Sep 20 doi: 10.1016/j.ogla.2020.09.012. PMID: 32966898
Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.
Boese EA, Tollefson MR, Schnieders MJ, Darbro BW, Alward WLM, Fingert JH
Curr Eye Res 2020 Jan;45(1):91-96. Epub 2019 Aug 14 doi: 10.1080/02713683.2019.1649704. PMID: 31361967Free PMC Article
Vitreomacular Adhesion and Its Association With Age-Related Macular Degeneration in a Population-Based Setting: The Alienor Study.
Gattoussi S, Cougnard-Grégoire A, Delyfer MN, Rougier MB, Schweitzer C, Delcourt C, Korobelnik JF
Invest Ophthalmol Vis Sci 2017 Apr 1;58(4):2180-2186. doi: 10.1167/iovs.16-20741. PMID: 28399268
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I
Eur J Hum Genet 2014 Mar;22(3):344-9. Epub 2013 Aug 14 doi: 10.1038/ejhg.2013.162. PMID: 23942204Free PMC Article
Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study.
Gramer E, Reiter C, Gramer G
Eur J Ophthalmol 2012 Jan-Feb;22(1):104-10. doi: 10.5301/EJO.2011.8318. PMID: 22167549

Clinical prediction guides

Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.
Gołaszewska K, Dub N, Saeed E, Mariak Z, Konopińska J
BMC Ophthalmol 2021 Mar 29;21(1):154. doi: 10.1186/s12886-021-01899-2. PMID: 33781219Free PMC Article
Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations.
Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266
Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.
Boese EA, Tollefson MR, Schnieders MJ, Darbro BW, Alward WLM, Fingert JH
Curr Eye Res 2020 Jan;45(1):91-96. Epub 2019 Aug 14 doi: 10.1080/02713683.2019.1649704. PMID: 31361967Free PMC Article
Clinical manifestations of congenital aniridia.
Singh B, Mohamed A, Chaurasia S, Ramappa M, Mandal AK, Jalali S, Sangwan VS
J Pediatr Ophthalmol Strabismus 2014 Jan-Feb;51(1):59-62. Epub 2014 Jan 3 doi: 10.3928/01913913-20131223-01. PMID: 24369682
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I
Eur J Hum Genet 2014 Mar;22(3):344-9. Epub 2013 Aug 14 doi: 10.1038/ejhg.2013.162. PMID: 23942204Free PMC Article

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