Norrie disease: Difference between revisions
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[[ | {{SI}} | ||
{{Infobox medical condition | |||
| name = Norrie disease | |||
| image = [[File:X-linked_recessive.svg|200px]] | |||
| caption = Norrie disease is inherited in an [[X-linked recessive]] pattern. | |||
| synonyms = Norrie-Warburg syndrome | |||
| pronounce = | |||
| specialty = [[Ophthalmology]], [[Genetics]] | |||
| symptoms = [[Blindness]], [[Hearing loss]], [[Developmental delay]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Mutations in the ''[[NDP (gene)|NDP]]'' gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[Ophthalmic examination]] | |||
| differential = [[Retinopathy of prematurity]], [[Persistent fetal vasculature]] | |||
| treatment = Supportive care, [[Hearing aids]], [[Special education]] | |||
| prognosis = Variable, depends on severity of symptoms | |||
| frequency = Rare | |||
}} | |||
'''Norrie disease''' is a rare [[genetic disorder]] that primarily affects the [[eye|eyes]] and leads to [[blindness]] in male infants at birth or shortly thereafter. The condition is named after the Scottish ophthalmologist [[Gordon Norrie]], who first described it in 1927. | |||
== Genetics == | == Genetics == | ||
Norrie disease is caused by mutations in the [[NDP gene]] located on the [[X chromosome]]. This gene is responsible for producing a protein called [[norrin]], which is crucial for the development of the [[retina]] and the [[inner ear]]. Because the gene is located on the X chromosome, Norrie disease follows an [[X-linked recessive inheritance]] pattern. This means that males, who have only one X chromosome, are more severely affected, while females, who have two X chromosomes, are typically carriers and usually do not exhibit symptoms. | Norrie disease is caused by mutations in the [[NDP gene]] located on the [[X chromosome]]. This gene is responsible for producing a protein called [[norrin]], which is crucial for the development of the [[retina]] and the [[inner ear]]. Because the gene is located on the X chromosome, Norrie disease follows an [[X-linked recessive inheritance]] pattern. This means that males, who have only one X chromosome, are more severely affected, while females, who have two X chromosomes, are typically carriers and usually do not exhibit symptoms. | ||
== Symptoms == | == Symptoms == | ||
The primary symptom of Norrie disease is [[congenital blindness]], which is present at birth. Other ocular symptoms may include [[retinal detachment]], [[cataracts]], and [[microphthalmia]]. As the disease progresses, affected individuals may develop [[hearing loss]] and, in some cases, [[intellectual disability]]. Additional symptoms can include [[developmental delay]], [[behavioral problems]], and [[seizures]]. | The primary symptom of Norrie disease is [[congenital blindness]], which is present at birth. Other ocular symptoms may include [[retinal detachment]], [[cataracts]], and [[microphthalmia]]. As the disease progresses, affected individuals may develop [[hearing loss]] and, in some cases, [[intellectual disability]]. Additional symptoms can include [[developmental delay]], [[behavioral problems]], and [[seizures]]. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Norrie disease is based on clinical evaluation, family history, and genetic testing. [[Ophthalmologic examination]] can reveal characteristic changes in the retina, while [[audiometric testing]] can assess hearing loss. Genetic testing can confirm the diagnosis by identifying mutations in the NDP gene. | Diagnosis of Norrie disease is based on clinical evaluation, family history, and genetic testing. [[Ophthalmologic examination]] can reveal characteristic changes in the retina, while [[audiometric testing]] can assess hearing loss. Genetic testing can confirm the diagnosis by identifying mutations in the NDP gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Norrie disease. Treatment focuses on managing symptoms and may include [[surgical intervention]] for retinal detachment, [[hearing aids]] for hearing loss, and [[special education]] services for developmental delays. Early intervention and supportive therapies can improve the quality of life for affected individuals. | There is currently no cure for Norrie disease. Treatment focuses on managing symptoms and may include [[surgical intervention]] for retinal detachment, [[hearing aids]] for hearing loss, and [[special education]] services for developmental delays. Early intervention and supportive therapies can improve the quality of life for affected individuals. | ||
== See Also == | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[X-linked recessive inheritance]] | * [[X-linked recessive inheritance]] | ||
| Line 19: | Line 33: | ||
* [[Hearing loss]] | * [[Hearing loss]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
== See Also == | == See Also == | ||
* [[Gordon Norrie]] | * [[Gordon Norrie]] | ||
* [[NDP gene]] | * [[NDP gene]] | ||
* [[Congenital blindness]] | * [[Congenital blindness]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 04:51, 6 April 2025
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| Norrie disease | |
|---|---|
| |
| Synonyms | Norrie-Warburg syndrome |
| Pronounce | |
| Specialty | Ophthalmology, Genetics |
| Symptoms | Blindness, Hearing loss, Developmental delay |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the NDP gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, Ophthalmic examination |
| Differential diagnosis | Retinopathy of prematurity, Persistent fetal vasculature |
| Prevention | N/A |
| Treatment | Supportive care, Hearing aids, Special education |
| Medication | N/A |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare |
| Deaths | N/A |
Norrie disease is a rare genetic disorder that primarily affects the eyes and leads to blindness in male infants at birth or shortly thereafter. The condition is named after the Scottish ophthalmologist Gordon Norrie, who first described it in 1927.
Genetics[edit]
Norrie disease is caused by mutations in the NDP gene located on the X chromosome. This gene is responsible for producing a protein called norrin, which is crucial for the development of the retina and the inner ear. Because the gene is located on the X chromosome, Norrie disease follows an X-linked recessive inheritance pattern. This means that males, who have only one X chromosome, are more severely affected, while females, who have two X chromosomes, are typically carriers and usually do not exhibit symptoms.
Symptoms[edit]
The primary symptom of Norrie disease is congenital blindness, which is present at birth. Other ocular symptoms may include retinal detachment, cataracts, and microphthalmia. As the disease progresses, affected individuals may develop hearing loss and, in some cases, intellectual disability. Additional symptoms can include developmental delay, behavioral problems, and seizures.
Diagnosis[edit]
Diagnosis of Norrie disease is based on clinical evaluation, family history, and genetic testing. Ophthalmologic examination can reveal characteristic changes in the retina, while audiometric testing can assess hearing loss. Genetic testing can confirm the diagnosis by identifying mutations in the NDP gene.
Treatment[edit]
There is currently no cure for Norrie disease. Treatment focuses on managing symptoms and may include surgical intervention for retinal detachment, hearing aids for hearing loss, and special education services for developmental delays. Early intervention and supportive therapies can improve the quality of life for affected individuals.
See Also[edit]
- Genetic disorder
- X-linked recessive inheritance
- Retinal detachment
- Hearing loss
- Intellectual disability
See Also[edit]
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