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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.
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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

Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy.
Ju Y, Zhang L, Gao F, Zong Y, Chen T, Ruan L, Chang Q, Zhang T, Huang X
Am J Ophthalmol 2024 Jun;262:73-85. Epub 2024 Jan 26 doi: 10.1016/j.ajo.2024.01.029. PMID: 38280677
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free 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
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

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
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
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

Assessing the Sensitivity of OCT-A Retinal Vasculature Metrics.
Szpernal J, Gaffney M, Linderman RE, Langlo CS, Hemsworth K, Walesa A, Higgins BP, Rosen RB, Chui TYP, Carroll J
Transl Vis Sci Technol 2023 Aug 1;12(8):2. doi: 10.1167/tvst.12.8.2. PMID: 37531114Free PMC Article
Macular Abnormalities Associated With 5α-Reductase Inhibitor.
Shin YK, Lee GW, Kang SW, Kim SJ, Kim AY
JAMA Ophthalmol 2020 Jul 1;138(7):732-739. doi: 10.1001/jamaophthalmol.2020.1279. PMID: 32379286Free PMC Article
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
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

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
Vascular dysfunction in retinitis pigmentosa.
Lang M, Harris A, Ciulla TA, Siesky B, Patel P, Belamkar A, Mathew S, Verticchio Vercellin AC
Acta Ophthalmol 2019 Nov;97(7):660-664. Epub 2019 May 17 doi: 10.1111/aos.14138. PMID: 31099494
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
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

Clinical features of patients with mutations in genes for nanophthalmos.
Li X, Xiao H, Su Y, Xiao X, Li S, Lin S, Fang L, Sun W, Wang P, Hejtmancik JF, Yu M, Chen L, Zhang Q, Liu X
Br J Ophthalmol 2024 Nov 22;108(12):1679-1687. doi: 10.1136/bjo-2023-324931. PMID: 38749530
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
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
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
Ehrenberg M, Bagdonite-Bejarano L, Fulton AB, Orenstein N, Yahalom C
Ophthalmic Genet 2021 Jun;42(3):243-251. Epub 2021 Feb 17 doi: 10.1080/13816810.2021.1888128. PMID: 33594928

Recent systematic reviews

Analysis of Retinal and Choroidal Microvasculature in Systemic Sclerosis Using Optical Coherence Tomography Angiography: A Systematic Review and Meta-Analysis.
Lohrasbi F, Karimi E, Gouravani M, Fooladi Sarabi S, Mafi A, Beikmarzehei A, Sanjari Moghaddam H, Parsaei M, Tabatabaei SM, Arevalo JF
Ophthalmic Res 2025;68(1):23-40. Epub 2024 Nov 4 doi: 10.1159/000542413. PMID: 39496253

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