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Year Number of Results
1978 1
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1993 1
1994 1
1996 1
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1999 1
2000 1
2005 1
2006 1
2008 1
2010 1
2013 1
2014 1
2016 1
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2024 0

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Page 1
Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Marino V, Dal Cortivo G, Maltese PE, Placidi G, De Siena E, Falsini B, Bertelli M, Dell'Orco D. Marino V, et al. Int J Mol Sci. 2021 Apr 14;22(8):4030. doi: 10.3390/ijms22084030. Int J Mol Sci. 2021. PMID: 33919796 Free PMC article.
As observed with other GCAP1-associated COD, perturbation of the homeostasis of Ca(2+) and cGMP may lead to the toxic accumulation of second messengers, ultimately triggering cell death. However, the abnormal electroretinogram recorded in this patient also suggested …
As observed with other GCAP1-associated COD, perturbation of the homeostasis of Ca(2+) and cGMP may lead to the toxic accumulation of second …
Ophthalmic manifestations of Danon disease.
Prall FR, Drack A, Taylor M, Ku L, Olson JL, Gregory D, Mestroni L, Mandava N. Prall FR, et al. Ophthalmology. 2006 Jun;113(6):1010-3. doi: 10.1016/j.ophtha.2006.02.030. Ophthalmology. 2006. PMID: 16751040
The 4 affected females demonstrated a peripheral pigmentary retinopathy. Lens changes, myopia, abnormal electroretinogram and visual fields were also found. The males demonstrated a near-complete loss of pigment in the retinal pigment epithelium. ...
The 4 affected females demonstrated a peripheral pigmentary retinopathy. Lens changes, myopia, abnormal electroretinogram and …
A case report of acute zonal occult outer retinopathy.
Kaye R, De Salvo G. Kaye R, et al. Eur J Ophthalmol. 2019 Jul;29(1_suppl):27-31. doi: 10.1177/1120672119853143. Epub 2019 Jul 8. Eur J Ophthalmol. 2019. PMID: 31282209
A normal full-body positron emission tomography scan, negative antibodies for cancer-associated retinopathy and abnormal electroretinogram led to a diagnosis of acute zonal occult outer retinopathy. ...
A normal full-body positron emission tomography scan, negative antibodies for cancer-associated retinopathy and abnormal electrore …
Prevalence of Antiretinal Antibodies in Acute Zonal Occult Outer Retinopathy: A Comprehensive Review of 25 Cases.
Qian CX, Wang A, DeMill DL, Jayasundera T, Branham K, Abalem MF, Khan N, Heckenlively JR. Qian CX, et al. Am J Ophthalmol. 2017 Apr;176:210-218. doi: 10.1016/j.ajo.2016.12.001. Epub 2016 Dec 18. Am J Ophthalmol. 2017. PMID: 27993590 Free PMC article.
STUDY POPULATION: Twenty-five patients were identified by characteristic symptoms (abrupt onset of photopsias, followed by large scotomata at or connected to the blind spot), ocular findings (paucity of pigmentary changes with no sign of vitreous inflammation and abnormal …
STUDY POPULATION: Twenty-five patients were identified by characteristic symptoms (abrupt onset of photopsias, followed by large scotomata a …
Case Report: Long-term Structural and Functional Effects of Ethambutol Optic Neuropathy.
Addy LK, Harrison WW. Addy LK, et al. Optom Vis Sci. 2020 Aug;97(8):555-560. doi: 10.1097/OPX.0000000000001552. Optom Vis Sci. 2020. PMID: 32833400
SIGNIFICANCE: This case report demonstrates reduction in the retinal nerve fiber layer (RNFL) thickness and an abnormal electroretinogram after toxic optic neuropathy from ethambutol, more than 1 year after improvements in visual acuity (VA) and visual fields (VFs) …
SIGNIFICANCE: This case report demonstrates reduction in the retinal nerve fiber layer (RNFL) thickness and an abnormal electroret …
Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease.
Litke AM, Samuelson S, Delaney KR, Sauvé Y, Chow RL. Litke AM, et al. Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):5824-5835. doi: 10.1167/iovs.18-25490. Invest Ophthalmol Vis Sci. 2018. PMID: 30535423
A mouse model for VSX1 p.P247R did not have any observable corneal defect, but did exhibit an abnormal electroretinogram response characterized by a more prominent ON as opposed to OFF panretinal responsiveness. ...
A mouse model for VSX1 p.P247R did not have any observable corneal defect, but did exhibit an abnormal electroretinogram respo …
Through a shade darkly.
Purvin V. Purvin V. Surv Ophthalmol. 1999 Jan-Feb;43(4):335-40. doi: 10.1016/s0039-6257(98)00050-2. Surv Ophthalmol. 1999. PMID: 10025515
A 43-year-old man complained of difficulty seeing in dim light (nyctalopia). A prolonged photostress test and abnormal electroretinogram confirmed retinal rather than optic nerve dysfunction. ...
A 43-year-old man complained of difficulty seeing in dim light (nyctalopia). A prolonged photostress test and abnormal electroreti …
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
Schrander-Stumpel CT, Höweler CJ, Reekers AD, De Smet NM, Hall JG, Fryns JP. Schrander-Stumpel CT, et al. J Med Genet. 1993 Jan;30(1):78-80. doi: 10.1136/jmg.30.1.78. J Med Genet. 1993. PMID: 8423615 Free PMC article. Review.
The condition is characterised by congenital contractures of the hands and feet with diminished or absent phalangeal creases, ophthalmoplegia, a rigid trunk, deep set eyes, and (in the oldest patient) an abnormal electroretinogram. Differential diagnosis from amyopl …
The condition is characterised by congenital contractures of the hands and feet with diminished or absent phalangeal creases, ophthalmoplegi …
Paraneoplastic retinopathy: a novel autoantibody reaction associated with small-cell lung carcinoma.
Murphy MA, Thirkill CE, Hart WM Jr. Murphy MA, et al. J Neuroophthalmol. 1997 Jun;17(2):77-83. J Neuroophthalmol. 1997. PMID: 9176775
We present the case of a 74-year-old man with rapidly progressive bilateral visual loss, optic disc pallor, retinal arteriolar attenuation, and an abnormal electroretinogram with a 90% reduction in cone function and a 50% reduction in rod function. ...
We present the case of a 74-year-old man with rapidly progressive bilateral visual loss, optic disc pallor, retinal arteriolar attenuation, …
23 results