Autosomal dominant congenital stationary night blindness
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and colour. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able to identify road signs at night and some people cannot see stars in the night sky. Affected individuals have normal daytime vision and typically do not have other vision problems related to this disorder.
Descrizione
Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and colour. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able to identify road signs at night and some people cannot see stars in the night sky. Affected individuals have normal daytime vision and typically do not have other vision problems related to this disorder.
The night blindness associated with this condition is congenital, which means it is present from birth. This vision impairment tends to remain stable (stationary); it does not worsen over time.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
AdCSNB
CSNBAD
Night blindness, congenital stationary, autosomal dominant
Related patient information and medicines
Patient information leaflet
Sindrome di Marfan
It is the most common genetic problem affecting connective tissue. It is an autosomal dominant condition, meaning you only need one parent, not both, to have it to inherit it yourself. It can also arise "de novo" which means that the gene causing Marfan syndrome has not been inherited but has "mutated" (changed) during the early developments after.
Patient information leaflet
Sindrome di Ehlers-Danlos
What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from parents. These can be inherited via autosomal dominant inheritance (for hypermobile, classical and venous EDS) which means one in two children will be affected on average, or autosomal recessive.
Patient information leaflet
Carenza di vitamina A
Vitamine are a group of substances needed in small amounts by the body to maintain health. Vitamin A cannot be made by the hu... Carenza di vitamina A is much more common in low-income countries, where it is often very severe and can cause loss of vision and even death. Infertility . Miscarriage. Signs and symptoms of severe vitamin A deficiency.
Patient information leaflet
Bambini prematuri
However about 1 in 10 of all prematur... One study of 241 children born before 26 weeks of gestation found: 1 in 5 had severe disability (for example, paralisi cerebrale + not walking, low cognitive scores, blindness, profound deafness). 1 in 4 had moderate disability (for example, paralisi cerebrale + walking, IQ/cognitive scores in the special needs.
Patient information leaflet
Malattia di Huntington
La malattia di Huntington è causata da un gene difettoso che si eredita dai genitori. Huntington's disease is an autosomal dominant condition, meaning you can inherit the disease from just one of your parents. If one of your parents has a faulty copy of the gene, there is a 50:50 chance that each child they have will inherit the faulty gene. If a.
Patient information leaflet
Disordini di accumulo di glicogeno
Disordini di accumulo di glicogeno are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. It is estimated that about one baby in every 20,000 to 40,000 babies born has a glycogen storage disorder. Autosomal.
Ulteriori letture e riferimenti
- Autosomal dominant congenital stationary night blindness; MedlinePlus, National Library of Medicine.
- Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64.
- McAlear SD, Kraft TW, Gross AK. 1 rhodopsin mutations in congenital night blindness. Adv Exp Med Biol. 2010;664:263-72. doi: 10.1007/978-1-4419-1399-9_30.
- Szabo V, Kreienkamp HJ, Rosenberg T, Gal A. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum Mutat. 2007 Jul;28(7):741-2. doi: 10.1002/humu.9499.
- Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, Farber DB, Nusinowitz S. Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Hum Mutat. 2007 Mar;28(3):243-54. doi: 10.1002/humu.20425.
- Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14. doi: 10.1167/iovs.08-1717. Epub 2008 May 16.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.