Global InformationNorrie disease information
| Norrie disease | |
|---|---|
| Specialty | Medical genetics  |
Norrie disease is a rare X-linked recessive genetic disorder that primarily affects the eyes and almost always leads to blindness. It is caused by mutations in the Norrin cystine knot growth factor gene, also referred to as Norrie Disease Pseudoglioma (NDP) gene.[1][2] Norrie disease manifests with vision impairment either at birth, or within a few weeks of life, following an ocular event like retinal detachment and is progressive through childhood and adolescence. It generally begins with retinal degeneration, which occurs before birth and results in blindness at birth (congenital) or early infancy, usually by 3 months of age.[3]
Patients with Norrie disease may develop cataracts, leukocoria (where the pupils appear white when light is shone on them), along with other developmental issues in the eye, such as shrinking of the globe and the wasting away of the iris.[2]
In addition to the congenital ocular symptoms, the majority of individuals afflicted by this disease develop progressive hearing loss caused by vascular abnormalities in the cochlea. Hearing loss usually begins in early childhood and may be mild at first before becoming more progressive by the third or forth decade of life.[4][5]
Roughly 30-50 percent of those affected by the disease might encounter cognitive challenges, learning difficulties, incoordination of movements or behavioral abnormalities.[2] These developmental delays often surpass those expected from their visual impairment alone. Additionally, behavioral issues such as psychosis, aggression, and cognitive decline may manifest in patients. Intellectual disabilities have been observed in 20-30% of cases, while dementia, though uncommon, can emerge in late adulthood. About 15% of patients are estimated to develop all the features of the disease.[6]
Due to the X-linked recessive pattern of inheritance, Norrie disease affects almost entirely males. Only in very rare cases, females have been diagnosed with Norrie disease; cases of symptomatic female carriers have been reported.[7][8] It is a very rare disorder that is not associated with any specific ethnic or racial groups, with cases reported worldwide (including cases in North America, South America, Europe, Asia and Australasia).[9][10][11][12] While more than 400 cases have been described, the prevalence and incidence of the disease still remains unknown.[13][14]
- ^ "Symbol Report for NDP". Retrieved 23 January 2020.
- ^ a b c Sims K (1993). "NDP-Related Retinopathies – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". NDP-Related Retinopathies. University of Washington, Seattle. PMID 20301506. Retrieved 28 January 2007.
{{cite book}}:|journal=ignored (help) - ^ "Norrie Disease". National Organization for Rare Disorders. Retrieved 29 February 2024.
- ^ "Norrie Disease". National Organization for Rare Disorders. Retrieved 29 February 2024.
- ^ Halpin C, Owen G, Gutiérrez-Espeleta GA, Sims K, Rehm HL (July 2005). "Audiologic features of Norrie disease". The Annals of Otology, Rhinology, and Laryngology. 114 (7): 533–8. doi:10.1177/000348940511400707. hdl:10669/15119. PMID 16134349. S2CID 29284047.
- ^ Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, et al. (2006). "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity". Clinical & Experimental Ophthalmology. 34 (7): 682–8. doi:10.1111/j.1442-9071.2006.01314.x. PMID 16970763. S2CID 43683713.
- ^ Seller MJ, Pal K, Horsley S, Davies AF, Berry AC, Meredith R, McCartney AC (July 1995). "A fetus with an X;1 balanced reciprocal translocation and eye disease". Journal of Medical Genetics. 32 (7): 557–60. doi:10.1136/jmg.32.7.557. PMC 1050552. PMID 7562972.
- ^ Shastry BS, Hiraoka M, Trese DC, Trese MT (1999). "Norrie disease and exudative vitreoretinopathy in families with affected female carriers". European Journal of Ophthalmology. 9 (3): 238–42. doi:10.1177/112067219900900312. PMID 10544980. S2CID 37371789.
- ^ Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL (August 2012). "Norrie disease: extraocular clinical manifestations in 56 patients". American Journal of Medical Genetics. Part A. 158A (8): 1909–17. doi:10.1002/ajmg.a.35469. PMID 22786811. S2CID 9397893.
- ^ Chini V, Stambouli D, Nedelea FM, Filipescu GA, Mina D, Kambouris M, El-Shantil H (June 2014). "Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study". Eye Science. 29 (2): 104–7. PMID 26011961.
- ^ Donnai D, Mountford RC, Read AP (February 1988). "Norrie disease resulting from a gene deletion: clinical features and DNA studies". Journal of Medical Genetics. 25 (2): 73–8. doi:10.1136/jmg.25.2.73. PMC 1015446. PMID 3162283.
- ^ Halpin C, Sims K (November 2008). "Twenty years of audiology in a patient with Norrie disease". International Journal of Pediatric Otorhinolaryngology. 72 (11): 1705–10. doi:10.1016/j.ijporl.2008.08.007. PMID 18817988.
- ^ "Norrie Disease". Genetics Home Reference. Retrieved 28 January 2007.
- ^ Sims K. "Norrie Disease". Retrieved 6 December 2019.