U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Foveal hypoplasia 1(FVH1)

MedGen UID:
811934
•Concept ID:
C3805604
•
Disease or Syndrome
Synonyms: FOVEAL HYPOPLASIA 1 WITH ANTERIOR SEGMENT ANOMALIES; FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT; Foveal hypoplasia and presenile cataract syndrome
 
Gene (location): PAX6 (11p13)
 
Monarch Initiative: MONDO:0007628
OMIM®: 136520

Definition

Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). Genetic Heterogeneity of Foveal Hypoplasia Foveal hypoplasia-2 (FVH2; 609218) is caused by mutation in the SLC38A8 gene (615585) on chromosome 16q23. Foveal hypoplasia-3 (FVH3; 620958) is caused by mutation in the AHR gene (600253) on chromosome 7p21. [from OMIM]

Clinical features

From HPO
Presenile cataracts
MedGen UID:
56349
•Concept ID:
C0154971
•
Finding
Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.
See: Feature record | Search on this feature
Congenital nystagmus
MedGen UID:
195995
•Concept ID:
C0700501
•
Congenital Abnormality
Nystagmus dating from or present at birth.
See: Feature record | Search on this feature
Foveal hypoplasia
MedGen UID:
393047
•Concept ID:
C2673946
•
Finding
Underdevelopment of the fovea centralis.
See: Feature record | Search on this feature
Visual impairment
MedGen UID:
777085
•Concept ID:
C3665347
•
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
Daruich A, Robert MP, Leroy C, DE Vergnes N, Beugnet C, Malan V, Valleix S, Bremond-Gignac D
Am J Ophthalmol 2022 May;237:122-129. Epub 2021 Dec 20 doi: 10.1016/j.ajo.2021.12.007. PMID: 34942114
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L, Kjer B, Lei U, Duno M, Grønskov K
Ophthalmic Genet 2021 Jun;42(3):230-238. Epub 2021 Feb 22 doi: 10.1080/13816810.2021.1881979. PMID: 33612058
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D, Arno G, Corton M, Moosajee M
Genes (Basel) 2019 Dec 17;10(12) doi: 10.3390/genes10121050. PMID: 31861090Free PMC Article

Recent clinical studies

Etiology

Pathophysiology of Secondary Macular Hole in Rhegmatogenous Retinal Detachment.
Martins Melo I, Jhaveri A, Bansal A, Lee WW, Oquendo PL, Curcio CA, Muni RH
Invest Ophthalmol Vis Sci 2023 Oct 3;64(13):12. doi: 10.1167/iovs.64.13.12. PMID: 37815508Free PMC Article
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Findings in Persistent Retinopathy of Prematurity.
Warren CC, Young JB, Goldberg MR, Connor TB, Kassem IS, Costakos DM
Ophthalmic Surg Lasers Imaging Retina 2018 Jul 1;49(7):497-503. doi: 10.3928/23258160-20180628-05. PMID: 30021036Free PMC Article
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
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article

Diagnosis

Pathophysiology of Secondary Macular Hole in Rhegmatogenous Retinal Detachment.
Martins Melo I, Jhaveri A, Bansal A, Lee WW, Oquendo PL, Curcio CA, Muni RH
Invest Ophthalmol Vis Sci 2023 Oct 3;64(13):12. doi: 10.1167/iovs.64.13.12. PMID: 37815508Free PMC Article
Macular Findings in Carriers of Ocular Albinism With a Novel GPR143 Mutation.
Nanda T, Coombs A, Shi A, Baumal CR
Ophthalmic Surg Lasers Imaging Retina 2022 Aug;53(8):460-463. Epub 2022 Aug 1 doi: 10.3928/23258160-20220713-03. PMID: 35951714
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Findings in Persistent Retinopathy of Prematurity.
Warren CC, Young JB, Goldberg MR, Connor TB, Kassem IS, Costakos DM
Ophthalmic Surg Lasers Imaging Retina 2018 Jul 1;49(7):497-503. doi: 10.3928/23258160-20180628-05. PMID: 30021036Free PMC Article
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article

Therapy

Findings in Persistent Retinopathy of Prematurity.
Warren CC, Young JB, Goldberg MR, Connor TB, Kassem IS, Costakos DM
Ophthalmic Surg Lasers Imaging Retina 2018 Jul 1;49(7):497-503. doi: 10.3928/23258160-20180628-05. PMID: 30021036Free PMC Article
Multicenter study of pars plana vitrectomy for optic disc pit maculopathy: MACPIT study.
Avci R, Kapran Z, Ozdek Ş, Teke MY, Oz O, Guven D, Yilmaz S, Kaderli B, Durukan AH, Sobaci G, Unver YB, Akduman L, Kaynak S, Dogan I, Inan UU
Eye (Lond) 2017 Sep;31(9):1266-1273. Epub 2017 Jul 21 doi: 10.1038/eye.2017.142. PMID: 28731058Free PMC Article
Retinal vessel tortuosity associated with central retinal vein occlusion: an optical coherence tomography study.
Muraoka Y, Tsujikawa A, Kumagai K, Akagi-Kurashige Y, Ogino K, Murakami T, Miyamoto K, Yoshimura N
Invest Ophthalmol Vis Sci 2014 Jan 7;55(1):134-41. doi: 10.1167/iovs.13-13201. PMID: 24327610
Fixation stability during Rarebit Fovea Test.
Nilsson MM, Stevenson SB, Kumar G, Martin L, Brautaset RL
Clin Exp Optom 2009 Jan;92(1):9-13. Epub 2008 Jul 10 doi: 10.1111/j.1444-0938.2008.00297.x. PMID: 18637108
Multifocal electroretinographic evaluation of long-term hydroxychloroquine users.
Maturi RK, Yu M, Weleber RG
Arch Ophthalmol 2004 Jul;122(7):973-81. doi: 10.1001/archopht.122.7.973. PMID: 15249360

Prognosis

Management of optic disc pit-associated maculopathy: A case series from a tertiary referral center.
Muftuoglu IK, Tokuc EO, Karabas VL
Eur J Ophthalmol 2022 May;32(3):1720-1727. Epub 2021 Jun 16 doi: 10.1177/11206721211023727. PMID: 34132128
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
Multicenter study of pars plana vitrectomy for optic disc pit maculopathy: MACPIT study.
Avci R, Kapran Z, Ozdek Ş, Teke MY, Oz O, Guven D, Yilmaz S, Kaderli B, Durukan AH, Sobaci G, Unver YB, Akduman L, Kaynak S, Dogan I, Inan UU
Eye (Lond) 2017 Sep;31(9):1266-1273. Epub 2017 Jul 21 doi: 10.1038/eye.2017.142. PMID: 28731058Free PMC Article
Retinal vessel tortuosity associated with central retinal vein occlusion: an optical coherence tomography study.
Muraoka Y, Tsujikawa A, Kumagai K, Akagi-Kurashige Y, Ogino K, Murakami T, Miyamoto K, Yoshimura N
Invest Ophthalmol Vis Sci 2014 Jan 7;55(1):134-41. doi: 10.1167/iovs.13-13201. PMID: 24327610
Small unilateral foveal hemorrhages in young adults.
Pitta CG, Steinert RF, Gragoudas ES, Regan CD
Am J Ophthalmol 1980 Jan;89(1):96-102. doi: 10.1016/0002-9394(80)90235-4. PMID: 7356792

Clinical prediction guides

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.
Tekavčič Pompe M, Vrabič N, Volk M, Meglič A, Jarc-Vidmar M, Peterlin B, Hawlina M, Fakin A
Curr Issues Mol Biol 2021 Aug 16;43(2):941-957. doi: 10.3390/cimb43020067. PMID: 34449556Free PMC Article
Macular Abnormalities in Chinese Patients with Uveitis.
Liu T, Bi H, Wang X, Gao Y, Wang G, Ma W
Optom Vis Sci 2015 Aug;92(8):858-62. doi: 10.1097/OPX.0000000000000645. PMID: 26107024
Outer retinal structure after closed-globe blunt ocular trauma.
Flatter JA, Cooper RF, Dubow MJ, Pinhas A, Singh RS, Kapur R, Shah N, Walsh RD, Hong SH, Weinberg DV, Stepien KE, Wirostko WJ, Robison S, Dubra A, Rosen RB, Connor TB Jr, Carroll J
Retina 2014 Oct;34(10):2133-46. doi: 10.1097/IAE.0000000000000169. PMID: 24752010Free PMC Article
Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.
Acton JH, Greenberg JP, Greenstein VC, Marsiglia M, Tabacaru M, Theodore Smith R, Tsang SH
Exp Eye Res 2013 Aug;113:41-8. Epub 2013 May 10 doi: 10.1016/j.exer.2013.05.003. PMID: 23669302Free PMC Article
Multifocal electroretinographic evaluation of long-term hydroxychloroquine users.
Maturi RK, Yu M, Weleber RG
Arch Ophthalmol 2004 Jul;122(7):973-81. doi: 10.1001/archopht.122.7.973. PMID: 15249360

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...