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Undetectable dark-adapted electroretinogram

MedGen UID:
892616
•Concept ID:
C4072964
•
Finding
HPO: HP:0030474

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUndetectable dark-adapted electroretinogram

Professional guidelines

PubMed

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article

Recent clinical studies

Etiology

Phenotypic and genotypic features of POC1B-associated cone dystrophy.
Alzahem TA, AlTheeb A, Ba-Abbad R
Ophthalmic Genet 2024 Feb;45(1):72-77. Epub 2023 May 29 doi: 10.1080/13816810.2023.2204361. PMID: 37246743
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S
Ophthalmic Genet 2021 Apr;42(2):144-149. Epub 2020 Dec 29 doi: 10.1080/13816810.2020.1861307. PMID: 33372566
Acute unilateral inner retinal dysfunction with photophobia: importance of electrodiagnosis.
Hirakata T, Fujinami K, Saito W, Kanda A, Hirakata A, Ishida S, Murakami A, Tsunoda K, Miyake Y
Jpn J Ophthalmol 2021 Jan;65(1):42-53. Epub 2020 Nov 12 doi: 10.1007/s10384-020-00780-x. PMID: 33180210
Intravitreal injection of autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy: a phase I trial.
Siqueira RC, Messias A, Voltarelli JC, Scott IU, Jorge R
Retina 2011 Jun;31(6):1207-14. doi: 10.1097/IAE.0b013e3181f9c242. PMID: 21293313

Diagnosis

Phenotypic and genotypic features of POC1B-associated cone dystrophy.
Alzahem TA, AlTheeb A, Ba-Abbad R
Ophthalmic Genet 2024 Feb;45(1):72-77. Epub 2023 May 29 doi: 10.1080/13816810.2023.2204361. PMID: 37246743
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S
Ophthalmic Genet 2021 Apr;42(2):144-149. Epub 2020 Dec 29 doi: 10.1080/13816810.2020.1861307. PMID: 33372566
Acute unilateral inner retinal dysfunction with photophobia: importance of electrodiagnosis.
Hirakata T, Fujinami K, Saito W, Kanda A, Hirakata A, Ishida S, Murakami A, Tsunoda K, Miyake Y
Jpn J Ophthalmol 2021 Jan;65(1):42-53. Epub 2020 Nov 12 doi: 10.1007/s10384-020-00780-x. PMID: 33180210
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article

Therapy

Intravitreal injection of autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy: a phase I trial.
Siqueira RC, Messias A, Voltarelli JC, Scott IU, Jorge R
Retina 2011 Jun;31(6):1207-14. doi: 10.1097/IAE.0b013e3181f9c242. PMID: 21293313

Prognosis

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S
Ophthalmic Genet 2021 Apr;42(2):144-149. Epub 2020 Dec 29 doi: 10.1080/13816810.2020.1861307. PMID: 33372566
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article
Macular maldevelopment in ATF6-mediated retinal dysfunction.
Ritter M, Arno G, Ba-Abbad R, Holder GE, Webster AR
Ophthalmic Genet 2019 Dec;40(6):564-569. Epub 2020 Jan 3 doi: 10.1080/13816810.2019.1706749. PMID: 31900015

Clinical prediction guides

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Acute unilateral inner retinal dysfunction with photophobia: importance of electrodiagnosis.
Hirakata T, Fujinami K, Saito W, Kanda A, Hirakata A, Ishida S, Murakami A, Tsunoda K, Miyake Y
Jpn J Ophthalmol 2021 Jan;65(1):42-53. Epub 2020 Nov 12 doi: 10.1007/s10384-020-00780-x. PMID: 33180210
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article
Intravitreal injection of autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy: a phase I trial.
Siqueira RC, Messias A, Voltarelli JC, Scott IU, Jorge R
Retina 2011 Jun;31(6):1207-14. doi: 10.1097/IAE.0b013e3181f9c242. PMID: 21293313

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