U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GUCY2D retinopathy

MedGen UID:
986778
•Concept ID:
CN305604
•
Disease or Syndrome
Synonym: retinopathy caused by mutation in GUCY2D
 
Monarch Initiative: MONDO:0100454

Definition

Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. [from MONDO]

Professional guidelines

PubMed

Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q
Exp Eye Res 2021 Jul;208:108637. Epub 2021 May 26 doi: 10.1016/j.exer.2021.108637. PMID: 34048777
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D, Wimberg H, Kinarty Y, Koch KW
Prog Retin Eye Res 2018 Mar;63:69-91. Epub 2017 Oct 20 doi: 10.1016/j.preteyeres.2017.10.003. PMID: 29061346

Recent clinical studies

Etiology

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S
Sci Rep 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. PMID: 36460718Free PMC Article
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Leber congenital amaurosis caused by mutations in GUCY2D.
Boye SE
Cold Spring Harb Perspect Med 2014 Sep 25;5(1):a017350. doi: 10.1101/cshperspect.a017350. PMID: 25256176Free PMC Article
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S
Sci Rep 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. PMID: 36460718Free PMC Article
Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D, Wimberg H, Kinarty Y, Koch KW
Prog Retin Eye Res 2018 Mar;63:69-91. Epub 2017 Oct 20 doi: 10.1016/j.preteyeres.2017.10.003. PMID: 29061346
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study.
Yang P, Pardon LP, Ho AC, Lauer AK, Yoon D, Boye SE, Boye SL, Roman AJ, Wu V, Garafalo AV, Sumaroka A, Swider M, Viarbitskaya I, Aleman TS, Pennesi ME, Kay CN, Fujita KP, Cideciyan AV
Lancet 2024 Sep 7;404(10456):962-970. doi: 10.1016/S0140-6736(24)01447-8. PMID: 39244273
Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Wu V, Swider M, Sheplock R, Krishnan AK, Garafalo AV
Int J Mol Sci 2021 Feb 18;22(4) doi: 10.3390/ijms22042031. PMID: 33670772Free PMC Article
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations.
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE
Am J Ophthalmol 2017 May;177:44-57. Epub 2017 Feb 16 doi: 10.1016/j.ajo.2017.02.003. PMID: 28212877
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.
Schorderet DF, Iouranova A, Favez T, Tiab L, Escher P
Biomed Res Int 2013;2013:198089. Epub 2012 Dec 26 doi: 10.1155/2013/198089. PMID: 23484092Free PMC Article
AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.
Boye SL, Peshenko IV, Huang WC, Min SH, McDoom I, Kay CN, Liu X, Dyka FM, Foster TC, Umino Y, Karan S, Jacobson SG, Baehr W, Dizhoor A, Hauswirth WW, Boye SE
Hum Gene Ther 2013 Feb;24(2):189-202. doi: 10.1089/hum.2012.193. PMID: 23210611Free PMC Article

Prognosis

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
Leber Congenital Amaurosis.
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26. PMID: 30578499
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Clinical prediction guides

Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study.
Yang P, Pardon LP, Ho AC, Lauer AK, Yoon D, Boye SE, Boye SL, Roman AJ, Wu V, Garafalo AV, Sumaroka A, Swider M, Viarbitskaya I, Aleman TS, Pennesi ME, Kay CN, Fujita KP, Cideciyan AV
Lancet 2024 Sep 7;404(10456):962-970. doi: 10.1016/S0140-6736(24)01447-8. PMID: 39244273
Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.
Zhou Y, Huang L, Xie Y, Liu W, Zhang S, Liu L, Lin P, Li N
Graefes Arch Clin Exp Ophthalmol 2024 Sep;262(9):3029-3038. Epub 2024 Apr 25 doi: 10.1007/s00417-024-06450-9. PMID: 38662103Free PMC Article
Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
Jiang F, Xu K, Zhang X, Xie Y, Bai F, Li Y
Doc Ophthalmol 2015 Oct;131(2):105-14. Epub 2015 Aug 23 doi: 10.1007/s10633-015-9509-7. PMID: 26298565
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
Xiao X, Guo X, Jia X, Li S, Wang P, Zhang Q
Mol Vis 2011;17:3271-8. Epub 2011 Dec 15 PMID: 22194653Free PMC Article

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.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      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...