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Decreased light- and dark-adapted electroretinogram amplitude

MedGen UID:
326793
Concept ID:
C1839025
Finding
Synonyms: Decreased amplitudes on flash visual electroretinogram; Decreased electroretinogram response; Reduced electroretinogram (ERG); Reduced ERG
 
HPO: HP:0000654

Definition

Descreased amplitude of eletrical response upon electroretinography. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased light- and dark-adapted electroretinogram amplitude

Conditions with this feature

Mucolipidosis type IV
MedGen UID:
68663
Concept ID:
C0238286
Disease or Syndrome
Mucolipidosis IV (MLIV) is an ultra-rare lysosomal storage disorder characterized by severe psychomotor delay, progressive visual impairment, and achlorhydria. Individuals with MLIV typically present by the end of the first year of life with delayed developmental milestones (due to a developmental brain abnormality) and impaired vision (resulting from a combination of corneal clouding and retinal degeneration). By adolescence, all individuals with MLIV have severe visual impairment. A neurodegenerative component of MLIV has become more widely appreciated, with the majority of individuals demonstrating progressive spastic quadriparesis and loss of psychomotor skills starting in the second decade of life. About 5% of individuals have atypical MLIV, manifesting with less severe psychomotor impairment, but still exhibiting progressive retinal degeneration and achlorhydria.
ALG3-congenital disorder of glycosylation
MedGen UID:
322026
Concept ID:
C1832736
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017). For a discussion of the classification of CDGs, see CDG1A (212065).
Neuronal ceroid lipofuscinosis 9
MedGen UID:
332304
Concept ID:
C1836841
Disease or Syndrome
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).
Muscular dystrophy-dystroglycanopathy type B6
MedGen UID:
373284
Concept ID:
C1837229
Disease or Syndrome
MDDGB6 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Striatonigral degeneration, infantile, mitochondrial
MedGen UID:
374113
Concept ID:
C1839022
Disease or Syndrome
Acyl-CoA oxidase deficiency
MedGen UID:
376636
Concept ID:
C1849678
Disease or Syndrome
Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (see 601539) (Watkins et al., 1995).
Neuronal ceroid lipofuscinosis 1
MedGen UID:
340540
Concept ID:
C1850451
Disease or Syndrome
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis See also CLN2 (204500), caused by mutation in the TPP1 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4 (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q22; CLN6A (601780) and CLN6B (204300), both caused by mutation in the CLN6 gene (606725) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), both caused by mutation in the CLN8 gene (607837) on 8p23; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q21; CLN13 (615362), caused by mutation in the CTSF gene (603539) on 11q13; and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11. CLN9 (609055) has not been molecularly characterized. A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693).
Congenital stationary night blindness autosomal dominant 1
MedGen UID:
355852
Concept ID:
C1864869
Disease or Syndrome
Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.
Retinitis pigmentosa 46
MedGen UID:
382614
Concept ID:
C2675496
Disease or Syndrome
Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function (Hartong et al., 2008). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Leber congenital amaurosis 14
MedGen UID:
442375
Concept ID:
C2750063
Disease or Syndrome
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.
Leber congenital amaurosis 1
MedGen UID:
419026
Concept ID:
C2931258
Disease or Syndrome
Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
Retinitis pigmentosa 47
MedGen UID:
462411
Concept ID:
C3151061
Disease or Syndrome
Retinitis pigmentosa-47 (RP47) is characterized by relatively late-onset visual decline, although most patients experience night blindness in childhood. A characteristic golden sheen, considered to be pathognomonic for Oguchi disease (258100), may be observed in the periphery on ultra-widefield fundus images (Nishiguchi et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 44
MedGen UID:
462418
Concept ID:
C3151068
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.
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.
X-linked cone dysfunction syndrome with myopia
MedGen UID:
463611
Concept ID:
C3159311
Disease or Syndrome
Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990).
Autosomal recessive bestrophinopathy
MedGen UID:
854806
Concept ID:
C3888198
Disease or Syndrome
Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma.
Leber congenital amaurosis 19
MedGen UID:
1679297
Concept ID:
C5193139
Disease or Syndrome
Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography (Yi et al., 2019). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.

Recent clinical studies

Etiology

Hagedorn JL, Dunn TM, Bhattarai S, Stephan C, Mathews KD, Pfeifer W, Drack AV
Doc Ophthalmol 2023 Feb;146(1):7-16. Epub 2022 Nov 18 doi: 10.1007/s10633-022-09909-4. PMID: 36399172
Yilmaz AC, Durukan AH, Yilmaz H, Karaca U
Semin Ophthalmol 2022 May 19;37(4):485-490. Epub 2021 Sep 29 doi: 10.1080/08820538.2021.1985527. PMID: 34586967
Rigaudière F, Nasser H, Delouvrier E, Milani P, Schiff M
Doc Ophthalmol 2022 Feb;144(1):53-65. Epub 2021 Sep 7 doi: 10.1007/s10633-021-09849-5. PMID: 34491492
Ahmadieh H, Behbahani S, Safi S
Doc Ophthalmol 2021 Jun;142(3):305-314. Epub 2020 Nov 23 doi: 10.1007/s10633-020-09805-9. PMID: 33226538
Yuan W, Zhou C, Cao Q, Du Z, Hu R, Wang Y, Kijlstra A, Yang P
Am J Ophthalmol 2018 Jul;191:92-99. Epub 2018 Apr 25 doi: 10.1016/j.ajo.2018.04.013. PMID: 29702075

Diagnosis

Hagedorn JL, Dunn TM, Bhattarai S, Stephan C, Mathews KD, Pfeifer W, Drack AV
Doc Ophthalmol 2023 Feb;146(1):7-16. Epub 2022 Nov 18 doi: 10.1007/s10633-022-09909-4. PMID: 36399172
Rigaudière F, Nasser H, Delouvrier E, Milani P, Schiff M
Doc Ophthalmol 2022 Feb;144(1):53-65. Epub 2021 Sep 7 doi: 10.1007/s10633-021-09849-5. PMID: 34491492
Cosker E, Moulard M, Baumann C, Luc A, Angioi-Duprez K, Laprévote V, Schwan R, Schwitzer T
J Affect Disord 2021 Dec 1;295:453-462. Epub 2021 Aug 27 doi: 10.1016/j.jad.2021.08.054. PMID: 34507226
Ahmadieh H, Behbahani S, Safi S
Doc Ophthalmol 2021 Jun;142(3):305-314. Epub 2020 Nov 23 doi: 10.1007/s10633-020-09805-9. PMID: 33226538
Yuan W, Zhou C, Cao Q, Du Z, Hu R, Wang Y, Kijlstra A, Yang P
Am J Ophthalmol 2018 Jul;191:92-99. Epub 2018 Apr 25 doi: 10.1016/j.ajo.2018.04.013. PMID: 29702075

Therapy

Demir N, Kayhan B, Sumen SG, Sonmez M, Tukenmez Dikmen N
Cutan Ocul Toxicol 2023 Sep;42(3):103-108. Epub 2023 Jun 1 doi: 10.1080/15569527.2023.2217250. PMID: 37221823
Zhao H, Zhou L, Lai K, Yu M, Huang C, Xu F, Li C, Lu L, Jin C
Lasers Med Sci 2022 Dec;37(9):3561-3569. Epub 2022 Sep 7 doi: 10.1007/s10103-022-03635-8. PMID: 36070046
Rigaudière F, Nasser H, Delouvrier E, Milani P, Schiff M
Doc Ophthalmol 2022 Feb;144(1):53-65. Epub 2021 Sep 7 doi: 10.1007/s10633-021-09849-5. PMID: 34491492
Ye H, Yu M, Lu L, Jin C, Luo G
Lasers Med Sci 2018 Jul;33(5):1095-1102. Epub 2018 Mar 15 doi: 10.1007/s10103-018-2474-0. PMID: 29542045
Varghese SB, Reid JC, Hartmann EE, Keyser KT
Invest Ophthalmol Vis Sci 2011 Dec 9;52(13):9445-51. doi: 10.1167/iovs.11-7874. PMID: 22064991Free PMC Article

Prognosis

Rigaudière F, Nasser H, Delouvrier E, Milani P, Schiff M
Doc Ophthalmol 2022 Feb;144(1):53-65. Epub 2021 Sep 7 doi: 10.1007/s10633-021-09849-5. PMID: 34491492
Forshaw TRJ, Ahmed HJ, Kjaer TW, Andréasson S, Sørensen TL
Acta Ophthalmol 2020 Nov;98(7):693-700. Epub 2020 Apr 10 doi: 10.1111/aos.14430. PMID: 32275357
Yuan W, Zhou C, Cao Q, Du Z, Hu R, Wang Y, Kijlstra A, Yang P
Am J Ophthalmol 2018 Jul;191:92-99. Epub 2018 Apr 25 doi: 10.1016/j.ajo.2018.04.013. PMID: 29702075
Lorenz B, Andrassi M, Kretschmann U
Ophthalmic Genet 2003 Jun;24(2):89-101. doi: 10.1076/opge.24.2.89.14001. PMID: 12789573
Peachey NS, Alexander KR, Derlacki DJ, Fishman GA
Vis Neurosci 1992 Feb;8(2):145-50. doi: 10.1017/s0952523800009305. PMID: 1558826

Clinical prediction guides

Zhao H, Zhou L, Lai K, Yu M, Huang C, Xu F, Li C, Lu L, Jin C
Lasers Med Sci 2022 Dec;37(9):3561-3569. Epub 2022 Sep 7 doi: 10.1007/s10103-022-03635-8. PMID: 36070046
Cosker E, Moulard M, Baumann C, Luc A, Angioi-Duprez K, Laprévote V, Schwan R, Schwitzer T
J Affect Disord 2021 Dec 1;295:453-462. Epub 2021 Aug 27 doi: 10.1016/j.jad.2021.08.054. PMID: 34507226
Hu Z, Wang K, Bertsch M, Dunn T, Kehoe T, Kemerley AD, Helms M, Bhattarai S, Pfeifer W, Scheetz TE, Drack AV
Doc Ophthalmol 2019 Aug;139(1):21-32. Epub 2019 Mar 29 doi: 10.1007/s10633-019-09692-9. PMID: 30927186Free PMC Article
Bottin C, Racine J, Robert MP, Cohen SY, Merle BMJ, Jung C, Miere A, Caillaux V, Souied EH, Zambrowski O
Invest Ophthalmol Vis Sci 2017 Jun 1;58(7):3262-3267. doi: 10.1167/iovs.16-20719. PMID: 28666277
Varghese SB, Reid JC, Hartmann EE, Keyser KT
Invest Ophthalmol Vis Sci 2011 Dec 9;52(13):9445-51. doi: 10.1167/iovs.11-7874. PMID: 22064991Free PMC Article

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