Norrie disease
آخر تحديث 18 Aug 2020
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and colour, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop.
الوصف
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and colour, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop.
About 30 percent of individuals with Norrie disease develop progressive hearing loss, and 30 to 50 percent of people affected experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.
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
Anderson-Warburg syndrome
Atrophia bulborum hereditaria
Congenital progressive oculo-acoustico-cerebral degeneration
Episkopi blindness
Fetal iritis syndrome
Norrie syndrome
Norrie's disease
Norrie-Warburg syndrome
Oligophrenia microphthalmus
Pseudoglioma congenita
Whitnall-Norman syndrome
Related patient information and medicines
Patient information leaflet
مرض منيير
Ménière's مرض typically causes attacks of dizziness with a spinning sensation (vertigo), hearing loss and noises in the ear (tinnitus). The attacks can vary in severity and in how often they occur. You may d... What is Ménière's disease. مرض منيير هو a condition of the inner ear. It causes problems with balance and hearing. Ménière's.
Patient information leaflet
مرض بيروني
مرض بيروني causes a curved or bent penis. It is caused by scar tissue forming along the shaft of the penis. This causes painful erections and a bend or curve, usually about halfway along the penis. The change in shape is usually only obvious when the penis is erect. Peyronie's disease symptoms Initial symptoms of Peyronie's disease.
Patient information leaflet
مرض العصبون الحركي
مرض العصبون الحركي (MND) is a neurological condition causes a progressive weakness and wasting of many of the muscles in the body. There are various types of motor neurone disease. This leaflet is mainly about التصلب الجانبي الضموري (ALS), which is the most common type of motor neurone disease. Although there is no cure for motor neurone.
Patient information leaflet
مرض هنتنغتون
Huntington's disease is a genetically inherited condition that causes parts of the brain and nervous system to stop working properly over time. It is a slowly progressive condition that interferes with the movements of your body, thinking and judgement, and can lead to a change in your behaviour. The symptoms occur because of damage and death of.
Patient information leaflet
مرض التهاب الحوض
مرض التهاب الحوض (PID) is an internal infection which has usually passed into the womb (uterus) and its surrounding organs from the vagina or neck of the womb (cervix). It may also affect the lower abdominal area (pelvis) around these organs. It is important to treat it with antibiotics to prevent complications. In most cases the.
Patient information leaflet
تقييم مخاطر صحة القلب والأوعية الدموية
ت cardiovascular health risk assessment provides an accurate estimate of your risk of developing cardiovascular disease (eg, angina, heart attack, stroke or peripheral arterial disease) over the following 10 years, and provides an opportunity for you to make any changes that will reduce this risk. If you already have a cardiovascular disease or.
قراءة إضافية ومراجع
- Norrie disease; MedlinePlus, National Library of Medicine.
- Braunger BM, Tamm ER. The different functions of Norrin. Adv Exp Med Biol. 2012;723:679-83. doi: 10.1007/978-1-4614-0631-0_86. No abstract available.
- Michaelides M, Luthert PJ, Cooling R, Firth H, Moore AT. Norrie disease and peripheral venous insufficiency. Br J Ophthalmol. 2004 Nov;88(11):1475. doi: 10.1136/bjo.2004.042556. No abstract available.
- National Organization for Rare Disorders (NORD)
- Rehm HL, Zhang DS, Brown MC, Burgess B, Halpin C, Berger W, Morton CC, Corey DP, Chen ZY. Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci. 2002 Jun 1;22(11):4286-92. doi: 10.1523/JNEUROSCI.22-11-04286.2002.
- Rodriguez-Munoz A, Garcia-Garcia G, Menor F, Millan JM, Tomas-Vila M, Jaijo T. The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease. Clin Chem Lab Med. 2018 Jan 26;56(2):229-235. doi: 10.1515/cclm-2017-0226.
- Scruggs BA, Reding MQ, Schimmenti LA. NDP-Related Retinopathies. 1999 Jul 30 [updated 2023 Mar 23]. 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/NBK1331/
- Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL. Norrie disease: extraocular clinical manifestations in 56 patients. Am J Med Genet A. 2012 Aug;158A(8):1909-17. doi: 10.1002/ajmg.a.35469. Epub 2012 Jul 11.
- Wang Z, Liu CH, Huang S, Chen J. Wnt Signaling in vascular eye diseases. Prog Retin Eye Res. 2019 May;70:110-133. doi: 10.1016/j.preteyeres.2018.11.008. Epub 2018 Dec 1.
- Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004 Mar 19;116(6):883-95. doi: 10.1016/s0092-8674(04)00216-8.
- Yang H, Li S, Xiao X, Guo X, Zhang Q. Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. Curr Eye Res. 2012 Aug;37(8):726-9. doi: 10.3109/02713683.2012.675615. Epub 2012 May 7.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Mar 2020 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.