X-linked congenital stationary night blindness
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X-linked congenital stationary night blindness is a disorder of the retina, which is a specialized tissue at the back of the eye that detects light and colour. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including increased sensitivity to light (photophobia), loss of sharpness (reduced visual acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Colour vision is typically not affected in people with X-linked congenital stationary night blindness.
Beskrivning
X-linked congenital stationary night blindness is a disorder of the retina, which is a specialized tissue at the back of the eye that detects light and colour. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including increased sensitivity to light (photophobia), loss of sharpness (reduced visual acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Colour vision is typically not affected in people with X-linked congenital stationary night blindness.
The vision problems associated with X-linked congenital stationary night blindness are congenital, which means they are present from birth. The vision problems also tend to remain stable (stationary) over time.
Researchers have identified two major types of X-linked congenital stationary night blindness: the complete form and the incomplete form. The types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic causes and by the results of a test called an electroretinogram, which measures the function of the retina.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Other names
X-linked CSNB
XLCSNB
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Vidare läsning och referenser
- X-linked congenital stationary night blindness; MedlinePlus, National Library of Medicine.
- Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):264-7. doi: 10.1038/947.
- Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet. 2000 Nov;26(3):319-23. doi: 10.1038/81619.
- Boycott KM, Pearce WG, Bech-Hansen NT. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol. 2000 Jun;35(4):204-13. doi: 10.1016/s0008-4182(00)80031-9.
- Jacobi FK, Andreasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Graefes Arch Clin Exp Ophthalmol. 2002 Oct;240(10):822-8. doi: 10.1007/s00417-002-0562-z. Epub 2002 Sep 21.
- 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. Congenital Stationary Night Blindness: Clinical and Genetic Features. Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965.
- MacDonald IM, Hoang S, Tuupanen S. X-Linked Congenital Stationary Night Blindness. 2008 Jan 16 [updated 2019 Jul 3]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1245/
- Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet. 2000 Nov;26(3):324-7. doi: 10.1038/81627.
- Schatz A, Kelbsch C, Zeitz C, Kohl S, Zrenner E, Gekeler F, Wilhelm H, Wilhelm B, Willmann G. Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness. Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1207-1215. doi: 10.1007/s00417-019-04319-w. Epub 2019 Apr 13.
- Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):260-3. doi: 10.1038/940.
- Tsang SH, Sharma T. Congenital Stationary Night Blindness. Adv Exp Med Biol. 2018;1085:61-64. doi: 10.1007/978-3-319-95046-4_13.
- Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13.
Artikelhistorik
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10 mars 2025 | Senaste versionen
1 Jun 2024 | Ursprungligen publicerad
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