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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
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

Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.
Aquaron R, Lasseaux E, Kelekele J, Bonello-Palot N, Badens C, Arveiler B, Tshilolo L
Eur J Med Genet 2022 Oct;65(10):104594. Epub 2022 Aug 12 doi: 10.1016/j.ejmg.2022.104594. PMID: 35964929
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

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
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
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917Free PMC Article
Ocular abnormalities in morbid obesity.
Teberik K, Eski MT, Doğan S, Pehlivan M, Kaya M
Arq Bras Oftalmol 2019 Jan-Feb;82(1):6-11. doi: 10.5935/0004-2749.20190007. PMID: 30652762
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

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
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
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917Free PMC Article
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
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
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
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

Characteristics and Spatial Distribution of Structural Features in Age-Related Macular Degeneration: A MACUSTAR Study Report.
Saßmannshausen M, Behning C, Weinz J, Goerdt L, Terheyden JH, Chang P, Schmid M, Poor SH, Zakaria N, Finger RP, Holz FG, Pfau M, Schmitz-Valckenberg S, Thiele S; MACUSTAR Consortium Members
Ophthalmol Retina 2023 May;7(5):420-430. Epub 2022 Dec 20 doi: 10.1016/j.oret.2022.12.007. PMID: 36563964
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
Swept-Source OCT and Swept-Source OCT Angiography before and after Vitrectomy with Stuffing of the Optic Pit.
Michalewska Z, Nawrocka Z, Nawrocki J
Ophthalmol Retina 2020 Sep;4(9):927-937. Epub 2020 Apr 8 doi: 10.1016/j.oret.2020.03.025. PMID: 32595097
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
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917Free PMC Article

Clinical prediction guides

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
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.
Vanden Heuvel C, Aldred B, Boulter T, Sullivan R, Ver Hoeve J, Schmitt M
Ophthalmic Genet 2023 Feb;44(1):83-88. Epub 2022 Jul 26 doi: 10.1080/13816810.2022.2103835. PMID: 35880649
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
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917Free PMC Article
Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis.
Thanos A, Shwayder T, Papakostas TD, Corradetti G, Capone A Jr, Sarraf D, Shields CL, Trese MT
Ophthalmol Retina 2019 Dec;3(12):1098-1104. Epub 2019 Jul 16 doi: 10.1016/j.oret.2019.07.004. PMID: 31420298

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