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Year Number of Results
2012 2
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28 results

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Page 1
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
X-linked retinopathies represent a significant proportion of monogenic retinal disease. ...We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X- …
X-linked retinopathies represent a significant proportion of monogenic retinal disease. ...We consider in detail the following …
Congenital Stationary Night Blindness.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:61-64. doi: 10.1007/978-3-319-95046-4_13. Adv Exp Med Biol. 2018. PMID: 30578486 Review.
In congenital stationary night blindness (CSNB), there is a defect in rod photoreceptor signal transmission. This disorder of night vision is non-progressive. The most common inheritance pattern is X-linked, though autosomal recessive and autosomal dominant p …
In congenital stationary night blindness (CSNB), there is a defect in rod photoreceptor signal transmission. This disorder of night v …
Congenital Stationary Night Blindness.
Cheong J, Tsang SH, Sharma T. Cheong J, et al. Adv Exp Med Biol. 2025;1467:69-72. doi: 10.1007/978-3-031-72230-1_13. Adv Exp Med Biol. 2025. PMID: 40736815 Review.
In congenital stationary night blindness (CSNB), there is a defect in rod photoreceptor signal transmission. This disorder of night vision is non-progressive. The most common inheritance pattern is X-linked, though autosomal recessive and autosomal dominant p …
In congenital stationary night blindness (CSNB), there is a defect in rod photoreceptor signal transmission. This disorder of night v …
Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M. Katta M, et al. Ophthalmol Retina. 2024 Sep;8(9):932-941. doi: 10.1016/j.oret.2024.03.017. Epub 2024 Mar 24. Ophthalmol Retina. 2024. PMID: 38522615 Free PMC article.
Retinal thickness, outer nuclear layer (ONL) thickness, and ganglion cell layer + inner plexiform layer (GCL+IPL) thickness from OCT imaging. RESULTS: X-linked (CACNA1F and NYX) and autosomal recessive (TRPM1, GRM6, GPR179 and CABP4) genotypes were identified. ...Ov …
Retinal thickness, outer nuclear layer (ONL) thickness, and ganglion cell layer + inner plexiform layer (GCL+IPL) thickness from OCT imaging …
Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.
Sundaramurthy S, Malaichamy S, Sen P, Sachidanandam R, Audo I, Zeitz C, Sarangapani S, Soumittra N. Sundaramurthy S, et al. Acta Ophthalmol. 2025 Nov;103(7):e496-e510. doi: 10.1111/aos.17531. Epub 2025 Jun 23. Acta Ophthalmol. 2025. PMID: 40551348
Here, we report the clinical and genetic findings of 46 CSNB families, with 18 families showing fundus abnormalities and 28 families without fundus abnormalities but having an altered ERG, showing complete CSNB (cCSNB) and Riggs type CSNB. ...(G238A) in RDH5 …
Here, we report the clinical and genetic findings of 46 CSNB families, with 18 families showing fundus abnormalities and 28 families …
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK. Kim AH, et al. Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965. Int J Mol Sci. 2022. PMID: 36499293 Free PMC article.
The patients had Riggs and Schubert-Bornschein types of CSNB with autosomal dominant, autosomal recessive, and X-linked inheritance patterns. This is the first report of CSNB patients in Taiwan with confirmed genetic testing, providing novel perspectiv …
The patients had Riggs and Schubert-Bornschein types of CSNB with autosomal dominant, autosomal recessive, and X-linked …
CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.
Dumitrescu AV, Pfeifer WL, Arhens M, Andorf JL, Drack AV. Dumitrescu AV, et al. Can J Ophthalmol. 2024 Dec;59(6):e808-e818. doi: 10.1016/j.jcjo.2023.11.022. Epub 2023 Dec 27. Can J Ophthalmol. 2024. PMID: 38159912
OBJECTIVE: To describe pediatric patients with CACNA1F-associated incomplete X-linked congenital stationary night blindness presenting without nyctalopia, and review the causes leading to diagnosis delay. ...
OBJECTIVE: To describe pediatric patients with CACNA1F-associated incomplete X-linked congenital stationary n …
Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.
Wen L, Liu Y, Yang Z, Mei S, Xin Y, Li S. Wen L, et al. Doc Ophthalmol. 2025 Feb;150(1):33-39. doi: 10.1007/s10633-024-09998-3. Epub 2024 Dec 9. Doc Ophthalmol. 2025. PMID: 39652271 Free PMC article.
PURPOSE: To report a novel hemizygous nonsense variant in the CACNA1F gene associated with congenital stationary night blindness (CSNB) in a pediatric patient, emphasizing the utility of portable electroretinography (ERG) and genetic testing in diagnosing unexplained visua …
PURPOSE: To report a novel hemizygous nonsense variant in the CACNA1F gene associated with congenital stationary night blindness (CSNB …
Ȧland Island eye disease in two patients harboring novel CACNA1F variants.
Duemler A, Gao H, Powell J, Iannaccone A, Alekseev O. Duemler A, et al. Ophthalmic Genet. 2025 Oct;46(5):495-498. doi: 10.1080/13816810.2025.2505914. Epub 2025 May 21. Ophthalmic Genet. 2025. PMID: 40400241
Aland Island eye disease (AIED) is a rare X-linked recessive condition caused by mutations in the CACNA1F gene. The AIED phenotype involves an overlap of canonical features of ocular albinism and congenital stationary night blindness (CSNB), thereby presentin …
Aland Island eye disease (AIED) is a rare X-linked recessive condition caused by mutations in the CACNA1F gene. The AIED pheno …
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO. Alsalamah AK, et al. Middle East Afr J Ophthalmol. 2020 Jul 20;27(2):86-90. doi: 10.4103/meajo.MEAJO_106_20. eCollection 2020 Apr-Jun. Middle East Afr J Ophthalmol. 2020. PMID: 32874040 Free PMC article.
The final clinical diagnoses were congenital stationary night blindness (CSNB) (two TRPM1-related and one Oguchi disease), X-linked retinoschisis (XLRS) (one genetically confirmed and two not genetically tested), cone-rod dystrophy (one CRX-related and one no …
The final clinical diagnoses were congenital stationary night blindness (CSNB) (two TRPM1-related and one Oguchi disease), X- …
28 results