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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. [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
Hypoplasia of the fovea
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

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
Interdisciplinary consensus statements on imaging of DRUJ instability and TFCC injuries.
Cerezal L, Del Piñal F, Atzei A, Schmitt R, Becce F, Klich M, Bień M, de Jonge MC, Teh J, Boutin RD, Toms AP, Omoumi P, Fritz J, Bazzocchi A, Shahabpour M, Zanetti M, Llopis E, Blum A, Lalam RK, Reto S, Afonso PD, Mascarenhas VV, Cotten A, Drapé JL, Bierry G, Pracoń G, Dalili D, Mespreuve M, Garcia-Elias M, Bain GI, Mathoulin CL, Van Overstraeten L, Szabo RM, Camus EJ, Luchetti R, Chojnowski AJ, Gruenert JG, Czarnecki P, Corella F, Nagy L, Yamamoto M, Golubev IO, van Schoonhoven J, Goehtz F, Sudoł-Szopińska I, Dietrich TJ
Eur Radiol 2023 Sep;33(9):6322-6338. Epub 2023 May 16 doi: 10.1007/s00330-023-09698-7. PMID: 37191922
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
The Phenotypic Spectrum of Albinism.
Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM
Ophthalmology 2018 Dec;125(12):1953-1960. Epub 2018 Aug 8 doi: 10.1016/j.ophtha.2018.08.003. PMID: 30098354
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

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
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
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
Expanding the phenotype of mucopolysaccharidosis type II retinopathy.
Kowalski T, Ruddle JB, de Jong G, Mack HG
Ophthalmic Genet 2021 Oct;42(5):631-636. Epub 2021 Jul 12 doi: 10.1080/13816810.2021.1938141. PMID: 34251974
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
LONG-TERM OUTCOMES FOR OPTIC DISK PIT MACULOPATHY AFTER VITRECTOMY.
Rayat JS, Rudnisky CJ, Waite C, Huang P, Sheidow TG, Kherani A, Tennant MT
Retina 2015 Oct;35(10):2011-7. doi: 10.1097/IAE.0000000000000576. PMID: 25923958

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
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free 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
The Phenotypic Spectrum of Albinism.
Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM
Ophthalmology 2018 Dec;125(12):1953-1960. Epub 2018 Aug 8 doi: 10.1016/j.ophtha.2018.08.003. PMID: 30098354

Clinical prediction guides

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
Interdisciplinary consensus statements on imaging of DRUJ instability and TFCC injuries.
Cerezal L, Del Piñal F, Atzei A, Schmitt R, Becce F, Klich M, Bień M, de Jonge MC, Teh J, Boutin RD, Toms AP, Omoumi P, Fritz J, Bazzocchi A, Shahabpour M, Zanetti M, Llopis E, Blum A, Lalam RK, Reto S, Afonso PD, Mascarenhas VV, Cotten A, Drapé JL, Bierry G, Pracoń G, Dalili D, Mespreuve M, Garcia-Elias M, Bain GI, Mathoulin CL, Van Overstraeten L, Szabo RM, Camus EJ, Luchetti R, Chojnowski AJ, Gruenert JG, Czarnecki P, Corella F, Nagy L, Yamamoto M, Golubev IO, van Schoonhoven J, Goehtz F, Sudoł-Szopińska I, Dietrich TJ
Eur Radiol 2023 Sep;33(9):6322-6338. Epub 2023 May 16 doi: 10.1007/s00330-023-09698-7. PMID: 37191922
Abnormal foveal morphology in carriers of oculocutaneous albinism.
Kuht HJ, Thomas MG, McLean RJ, Sheth V, Proudlock FA, Gottlob I
Br J Ophthalmol 2023 Aug;107(8):1202-1208. Epub 2022 Apr 4 doi: 10.1136/bjophthalmol-2020-318192. PMID: 35379600Free 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

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