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Hypoplasia of the retina

MedGen UID:
344343
Concept ID:
C1854685
Congenital Abnormality; Finding
Synonym: Retinal hypoplasia
 
HPO: HP:0007770

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the retina

Conditions with this feature

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
MedGen UID:
462869
Concept ID:
C3151519
Disease or Syndrome
An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.

Professional guidelines

PubMed

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Sen M, Shields CL, Honavar SG, Shields JA
Indian J Ophthalmol 2019 Jun;67(6):763-771. doi: 10.4103/ijo.IJO_841_19. PMID: 31124484Free PMC Article

Recent clinical studies

Etiology

Torm MEW, Dorweiler TF, Fickweiler W, Levine SR, Fort PE, Sun JK, Gardner TW
J Diabetes Complications 2023 Feb;37(2):108386. Epub 2022 Dec 21 doi: 10.1016/j.jdiacomp.2022.108386. PMID: 36608490Free PMC Article
Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
Adams SA, Nasrallah HA
Schizophr Res 2018 May;195:3-12. Epub 2017 Jul 27 doi: 10.1016/j.schres.2017.07.018. PMID: 28755877
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590

Diagnosis

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
Sen M, Shields CL, Honavar SG, Shields JA
Indian J Ophthalmol 2019 Jun;67(6):763-771. doi: 10.4103/ijo.IJO_841_19. PMID: 31124484Free PMC Article
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590

Therapy

Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Torm MEW, Dorweiler TF, Fickweiler W, Levine SR, Fort PE, Sun JK, Gardner TW
J Diabetes Complications 2023 Feb;37(2):108386. Epub 2022 Dec 21 doi: 10.1016/j.jdiacomp.2022.108386. PMID: 36608490Free PMC Article
Komatsu H, Onoguchi G, Jerotic S, Kanahara N, Kakuto Y, Ono T, Funakoshi S, Yabana T, Nakazawa T, Tomita H
Mol Psychiatry 2022 Sep;27(9):3592-3616. Epub 2022 May 2 doi: 10.1038/s41380-022-01591-x. PMID: 35501407
Yoshii T
Int J Mol Sci 2021 Feb 9;22(4) doi: 10.3390/ijms22041730. PMID: 33572198Free PMC Article
Kass MA, Heuer DK, Higginbotham EJ, Johnson CA, Keltner JL, Miller JP, Parrish RK 2nd, Wilson MR, Gordon MO
Arch Ophthalmol 2002 Jun;120(6):701-13; discussion 829-30. doi: 10.1001/archopht.120.6.701. PMID: 12049574

Prognosis

Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
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
Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M
Orphanet J Rare Dis 2020 Oct 23;15(1):299. doi: 10.1186/s13023-020-01553-y. PMID: 33097095Free PMC Article
Shi H, Koronyo Y, Rentsendorj A, Regis GC, Sheyn J, Fuchs DT, Kramerov AA, Ljubimov AV, Dumitrascu OM, Rodriguez AR, Barron E, Hinton DR, Black KL, Miller CA, Mirzaei N, Koronyo-Hamaoui M
Acta Neuropathol 2020 May;139(5):813-836. Epub 2020 Feb 10 doi: 10.1007/s00401-020-02134-w. PMID: 32043162Free PMC Article
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590

Clinical prediction guides

Koronyo Y, Rentsendorj A, Mirzaei N, Regis GC, Sheyn J, Shi H, Barron E, Cook-Wiens G, Rodriguez AR, Medeiros R, Paulo JA, Gupta VB, Kramerov AA, Ljubimov AV, Van Eyk JE, Graham SL, Gupta VK, Ringman JM, Hinton DR, Miller CA, Black KL, Cattaneo A, Meli G, Mirzaei M, Fuchs DT, Koronyo-Hamaoui M
Acta Neuropathol 2023 Apr;145(4):409-438. Epub 2023 Feb 11 doi: 10.1007/s00401-023-02548-2. PMID: 36773106Free PMC Article
Komatsu H, Onoguchi G, Jerotic S, Kanahara N, Kakuto Y, Ono T, Funakoshi S, Yabana T, Nakazawa T, Tomita H
Mol Psychiatry 2022 Sep;27(9):3592-3616. Epub 2022 May 2 doi: 10.1038/s41380-022-01591-x. PMID: 35501407
Shi H, Koronyo Y, Rentsendorj A, Regis GC, Sheyn J, Fuchs DT, Kramerov AA, Ljubimov AV, Dumitrascu OM, Rodriguez AR, Barron E, Hinton DR, Black KL, Miller CA, Mirzaei N, Koronyo-Hamaoui M
Acta Neuropathol 2020 May;139(5):813-836. Epub 2020 Feb 10 doi: 10.1007/s00401-020-02134-w. PMID: 32043162Free PMC Article
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590

Recent systematic reviews

Komatsu H, Onoguchi G, Jerotic S, Kanahara N, Kakuto Y, Ono T, Funakoshi S, Yabana T, Nakazawa T, Tomita H
Mol Psychiatry 2022 Sep;27(9):3592-3616. Epub 2022 May 2 doi: 10.1038/s41380-022-01591-x. PMID: 35501407
Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN
Genet Med 2022 Mar;24(3):521-534. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.013. PMID: 34906485
Hou X, Guo Y, Liu J, Li S, Fan W, Lin M, Rokohl AC, Heindl LM
Curr Eye Res 2021 Jul;46(7):913-918. Epub 2021 Jan 22 doi: 10.1080/02713683.2020.1853779. PMID: 33478254
Xu A, Chen C
Int Ophthalmol 2021 Feb;41(2):727-741. Epub 2020 Oct 11 doi: 10.1007/s10792-020-01609-9. PMID: 33040254
Zhang Z, Yu M, Wang F, Dai Y, Wu Z
J Glaucoma 2016 May;25(5):e446-54. doi: 10.1097/IJG.0000000000000275. PMID: 25943737

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