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Quoted phrase not found in phrase index: "Congenital stationary night blindness with abnormal fundus"
Page 1
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.
Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Peluso F, de Baere E, Zeitz C, Leroy BP, Secci J, Bacci GM. Marziali E, et al. Ophthalmic Genet. 2023 Apr;44(2):152-162. doi: 10.1080/13816810.2022.2132514. Epub 2022 Dec 5. Ophthalmic Genet. 2023. PMID: 36469668
BACKGROUND: Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or by a delay in adaptation to darkness, as well as by low visual acuity, myopia, nys …
BACKGROUND: Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorder …
Three cases of acute-onset bilateral photophobia.
Ueno S, Inooka D, Meinert M, Ito Y, Tsunoda K, Fujinami K, Iwata T, Ohde H, Terasaki H. Ueno S, et al. Jpn J Ophthalmol. 2019 Mar;63(2):172-180. doi: 10.1007/s10384-018-00649-0. Epub 2019 Jan 2. Jpn J Ophthalmol. 2019. PMID: 30604114
The decimal best-corrected visual acuity (> 0.8) and Humphrey visual fields (mean deviation > -3 dB) were relatively well preserved in all 3 patients. The optical coherence tomography (OCT) and fundus autofluorescence findings were essentially normal. Fluorescein ang …
The decimal best-corrected visual acuity (> 0.8) and Humphrey visual fields (mean deviation > -3 dB) were relatively well preserved in …
Clinical characteristics and current therapies for inherited retinal degenerations.
Sahel JA, Marazova K, Audo I. Sahel JA, et al. Cold Spring Harb Perspect Med. 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. Cold Spring Harb Perspect Med. 2014. PMID: 25324231 Free PMC article. Review.
., rod-cone dystrophy, also known as retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, choroideremia, Usher syndrome, and Bardet-Bidel syndrome) or be restricted to the macula (e.g., Stargardt disease, Best disease, and Sorsby fundus dystrophy), ultimately leading …
., rod-cone dystrophy, also known as retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, choroideremia, Usher syndrome, and Bardet-Bid …
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV. Stunkel ML, et al. Am J Ophthalmol. 2018 Jun;190:58-68. doi: 10.1016/j.ajo.2018.03.021. Epub 2018 Mar 17. Am J Ophthalmol. 2018. PMID: 29559409
PURPOSE: GUCY2D has been associated with autosomal recessive Leber congenital amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness, which may slowly progress to mild ret …
PURPOSE: GUCY2D has been associated with autosomal recessive Leber congenital amaurosis and autosomal dominant cone-rod dystrophy. Th …
A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction.
Barnes CS, Alexander KR, Fishman GA. Barnes CS, et al. Ophthalmology. 2002 Mar;109(3):575-83. doi: 10.1016/s0161-6420(01)00981-2. Ophthalmology. 2002. PMID: 11874764
PURPOSE: To characterize a distinctive form of congenital stationary night blindness (CSNB). DESIGN: Observational case report. PARTICIPANTS: A 30-year-old male with a history of night blindness, several members of his family, a patient with "complete" …
PURPOSE: To characterize a distinctive form of congenital stationary night blindness (CSNB). DESIGN: Observation …
Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S. Smirnov VM, et al. Doc Ophthalmol. 2018 Apr;136(2):135-143. doi: 10.1007/s10633-018-9629-y. Epub 2018 Mar 10. Doc Ophthalmol. 2018. PMID: 29525873
It is a rare retinal dysfunction that can be classified into the incomplete form of congenital stationary night blindness. Absent foveal reflex and overall foveal thinning were previously reported, but in most cases the fundus appearance was des …
It is a rare retinal dysfunction that can be classified into the incomplete form of congenital stationary night blin …
Electrophysiological findings in persons with nyctalopia.
Chia A, Luu CD. Chia A, et al. Ann Acad Med Singap. 2006 Dec;35(12):864-7. Ann Acad Med Singap. 2006. PMID: 17218997 Free article.
., a relatively greater difficulty seeing at night). When there is no accompanying abnormality seen in the fundus, visual electrophysiology becomes useful as an objective means of assessing rod (scotopic) photoreceptor function or pathway defects. ...There was no si …
., a relatively greater difficulty seeing at night). When there is no accompanying abnormality seen in the fundus, visual elec …
The incidence of negative ERG in clinical practice.
Koh AH, Hogg CR, Holder GE. Koh AH, et al. Doc Ophthalmol. 2001 Jan;102(1):19-30. doi: 10.1023/a:1017586118749. Doc Ophthalmol. 2001. PMID: 11475363
The causes, where a firm clinical diagnosis was possible, include X-linked juvenile retinoschisis, congenital stationary night blindness, central retinal artery occlusion, birdshot chorioretinopathy and melanoma-associated retinopathy (MAR). ...The pre …
The causes, where a firm clinical diagnosis was possible, include X-linked juvenile retinoschisis, congenital stationary ni …