About norrie syndrome
What is norrie syndrome?
Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene.
All males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop hearing (auditory) loss which is progressive of many years and some may exhibit cognitive abnormalities such as developmental delays or behavioral issues. Mental retardation may occur in some cases.
Several disorders can occur due to mutation of the NDP gene including persistent hyperplastic primary vitreous (PHPV), X-linked familial exudative vitreoretinopathy (X-linked-FEVR), and some cases of retinopathy of prematurity (ROP) and Coats disease. These disorders represent a spectrum of disease associated with the NDP gene. Each of these disorders can also occur secondary to mutations in other genes.
What are the symptoms for norrie syndrome?
Norrie disease is an inherited eye disorder that leads to Blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features.
What are the causes for norrie syndrome?
Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern.
What are the treatments for norrie syndrome?
Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential.
What are the risk factors for norrie syndrome?
Having a parent with the recessive gene.
Is there a cure/medications for norrie syndrome?
Norrie syndrome is an intrinsically genetic condition of eyesight, but it may also occur by unfortunate chance. It results in absolute blindness (only males) shortly after birth, if not instantly at birth. Immature retina cells accumulate at the back of the eyes with further unusual development of the retina, defected sensory cells that help in detecting color and light.
It affects the vascular maturity of the retina and the inner ear. This is a consequence of the mutations observed in the NDP gene, encrypting the Norrin protein. While the risk of mutation in daughters is 50 percent, females will be born completely free of this disease and will not pass it on to their daughters. Therefore, it is a disease-specific to boys.
Cure/medications are as follows:
Norrie syndrome, like most rare diseases, does not have an identified cure either. But surely there are effective measures to manage this disorder.
To manage it better, follow up with:
1. Melatonin for sleep disturbance
2. A multidisciplinary team must monitor the children
3. Life-long audiology testing at frequent intervals
4. Annual Ophthalmology assessment
5. Eye surgery, although this approach differs with every case on a risk-benefit analysis
6. Endocrine (growth) assessment
7. Healthy diet
8. Make low vision services available
9. Use visual aids
10. Look into assistive technology
Visual failure,Abnormally small eyes (microphthalmia) at birth,Widened pupils,The colored portion of the eyes (irises) may be underdeveloped (hypoplasia) and may stick to the lens (posterior synechiae) or to the cornea (anterior synechiae)
Retinal degeneration,Abnormal development of the neuroretina
Surgery to remove cataracts and reattach retinas