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Disease name : Norrie disease
Affected populations : Norrie disease is an super rare , inherit genetic disorder that induce visual sense loss and was first describedin Denmark in 1927 . The exact relative incidence of Norrie disease in the population is strange , butaround 500 font have been report worldwide . The disease mainly affect male , and when female do develop it , they lean to experiencemilder symptom .
Patients with Norrie disease are either born blind or become blind within months after birth.
Causes : Norrie disease is get bymore than 100 different types of mutationin a gene calledNorrin cysteine knot development factor(NDP ) . The gene codes for a protein called norrin , which is essential forcell and tissue developmentand is believe to helpprotect neuron in the retina , thelight - sensitive tissue paper at the back of the centre . The protein also represent a office in theformation of lineage vesselsin this area of the eye and in the inner ear .
The NDP factor is found on theX chromosome — otherwise known as the female sexual practice chromosome . ( Human female person typically have two tenner chromosomes ( XX ) — one of which is inherited from each parent — while male person have an X and a Y ( XY ) , the latter being the manlike sex chromosome . )
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Norrie disease is caused by mutations in a gene that is located on the X chromosome.
Norrie disease isinherited in a recessive manner , meaning that people have to inherit two copies of the mutate NDP cistron — one from each parent — to develop the condition . However , because Male typically inherit just one X chromosome , if that chromosome contains the faulty gene , they will by all odds develop the status . Females , meanwhile , may be " protect " by having a second , working written matter of the gene on their other X chromosome . This likely explains why most patients with Norrie disease are manlike , and affected female tend to have milder symptom .
Symptoms : The master symptom of Norrie disease is visual sensation loss . As a resultant of mutant in NDP , the retinas do n’t form properly and thendetach from the backs of the eyes , leading tocomplete cecity in both eyes . This normally happensat birth or within a few months of parturition .
An oculist may also discover other signs of the consideration while conduct an eye examination , such aswidened or lily-white pupil , as well as phlebotomize in the center of the heart or clouding of the lens of the eye , known as cataract . Some of these symptom may be seeable at parentage , but others may develop months or years later .
Beyond imaginativeness exit , approximately 30 % of patientswith Norrie disease also develop progressive hearing loss because of the condition — usually around the historic period of 12 — andbetween 30 % and 50%experience developmental delays in motor skills , let in sitting up and walking .
There are also behavioural symptoms associate with Norrie disease . For instance , around 1 in 4 patientsmay have episode ofuncontrollable or inappropriate laughing or crying . A similar percentage of patients with Norrie diseasealso have autism , and about 1 in 10 may have seizure .
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Treatments : There areno clinical treatmentsto prevent the hearing loss or blindness associated with Norrie disease . However , scientist are seek to evolve newgene therapiesto process the disorderliness , namely by replacing the incorrect NDP factor with a operative copy . For exercise , a2023 studyfound that gene therapy could bar get wind loss relate with Norrie disease in mouse .
In the interim , cochlear implants cansignificantly improve the tone of life of the patientswith audience loss . patient may also profit from using audition acquired immune deficiency syndrome , or undergo eye surgery to helppreserve some of their vision at the former stages of the disease before it is lost .
This clause is for informational purposes only and is not meant to offer aesculapian advice .
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