4 free views remaining today
Norrie disease
ICD-10 Codes
Related ICD-10:
Description
What is Norrie Disease?
Norrie disease is a rare genetic disorder that primarily affects the eyes, leading to blindness in affected individuals.
- Causes Blindness: The condition causes vision loss at birth or within the first few months of life due to abnormal retinal development [1].
- Rare Genetic Disorder: Norrie disease is an inherited eye disease caused by mutations in the NDP gene [9].
- X-linked Recessive: It is a rare X-linked recessive genetic disorder, meaning it primarily affects males who inherit the mutated gene from their mothers [6][7].
- Blindness and Hearing Loss: In addition to congenital ocular symptoms, Norrie disease may also cause hearing loss and other developmental defects [2][8].
Key Characteristics
- Congenital Blindness: Vision loss occurs at birth or within the first few weeks after an eye lesion such as retinal detachment [1].
- Progressive Hearing Loss: Most affected individuals suffer from progressive hearing impairment [8].
- Rare Condition: Norrie disease is a rare genetic condition, with only a few reported cases worldwide.
References
[1] Context 1: Norrie disease is characterized by vision loss at birth or a few weeks after an eye lesion such as retinal detachment occurs which threatens vision and can lead... [2] Context 2: Norrie disease is an inherited eye disease that causes blindness at birth or within the first few months of life. It may also cause hearing loss and other... [6] Context 6: Norrie disease is a rare X-linked recessive genetic disorder that primarily affects the eyes and almost always leads to blindness. [7] Context 7: Norrie disease is a rare X-linked genetic disorder which causes males to be totally blind at birth or become blind in both eyes at a young age. [8] Context 8: Norrie Disease is a rare genetic condition causing blindness/severe visual impairment from birth. Most affected individuals also suffer from progressive hearing... [9] Context 9: Norrie disease (ND) is a rare genetic condition that occurs when one of a person's two copies of the NDP gene carries a misprint (mutation). It is.
Additional Characteristics
- Rare genetic disorder
- Norrie disease
- Blindness and hearing loss
- X-linked recessive
- Congenital blindness
- Progressive hearing loss
Signs and Symptoms
Common Signs and Symptoms of Norrie Disease
Norrie disease is characterized by severe visual impairment or blindness from birth, making it a rare genetic condition that affects the eyes.
- Vision Loss: The most common symptom of Norrie disease is vision loss at birth or soon after birth, which can be profound and bilateral (affecting both eyes) [1][2].
- Retinal Detachment: Patients with Norrie disease may develop retinal detachment, a condition where the retina separates from the back of the eye, threatening vision [3].
- Cataracts: Cataracts are another common symptom of Norrie disease, where cloudy areas form in the lens of the eye, affecting vision [4][5].
- Leukocoria: Leukocoria is a condition where the pupils appear white when light is shone on them, due to scar tissue present behind the iris [6].
- Small Eyes: Patients with Norrie disease may have small eyes (microphthalmia) [7].
- Developmental Issues: In addition to eye-related symptoms, patients with Norrie disease may experience developmental delays, intellectual disability, and/or behavioral disorders [4][8].
Additional Symptoms
Some patients with Norrie disease may also experience:
- Growth failure
- Seizures
- Developmental delays
These symptoms can vary in severity and may be present at birth or develop later in life. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.
References: [1] - Context result 1: Norrie disease is characterized by vision loss at birth or a few weeks after an eye lesion such as retinal detachment occurs which threatens vision and can lead ... [2] - Context result 8: Mar 1, 2020 — Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. [3] - Context result 3: Patients with Norrie disease may develop retinal detachment, cataracts, leukocoria, iris atrophy as well as other developmental issues in the eye. Patients may ... [4] - Context result 5: Patients with Norrie disease may develop cataracts, leukocoria (where the pupils appear white when light is shone on them), along with other developmental ... [6] - Context result 7: Symptoms: Patients with Norrie disease have profound bilateral visual impairment, small eyes and “white pupils” due to scar tissue present immediately behind ... [8] - Context result 9: Additional symptoms may include growth failure, seizures, and developmental delays. The disease is characterized by abnormal retinal development, congenital ...
Additional Symptoms
- Seizures
- Growth failure
- Retinal Detachment
- Cataracts
- Leukocoria
- Small Eyes
- Developmental Issues
- loss of vision
Diagnostic Tests
Diagnostic Procedures for Norrie Disease
Norrie disease can be diagnosed through a combination of clinical evaluations and molecular genetic testing.
- Complete Eye Examination: A thorough eye examination by an ophthalmologist is essential to establish the clinical suspicion of Norrie disease. This evaluation will help identify characteristic ocular findings, such as vision loss at birth or a few weeks after an eye lesion occurs (4).
- Genetic Testing: Molecular genetic testing of the NDP gene can confirm the diagnosis of Norrie disease. This test is particularly useful for individuals with clinical signs and symptoms, suspicion of, or family history of the disease (5).
- Additional Tests: Further tests may be administered to detect any accompanying hearing loss or medical issues that may be associated with Norrie disease.
References:
- [1] Diagnostic procedures are recommended once the clinical suspicion is established.
- [2] Diagnosis is based on characteristic clinical ocular findings and can be confirmed by molecular genetic testing of NDP.
- [5] This is a next-generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Norrie Disease.
- [7] Clinical genetic testing is available to diagnose Norrie Disease based on clinical eye findings.
Additional Diagnostic Tests
- Additional Tests
- Genetic Testing
- Complete Eye Examination
Treatment
Current Drug Treatments for Norrie Disease
Norrie disease, a rare genetic disorder affecting the eyes and ears, has limited treatment options. However, recent research has shown promising results in using gene therapy to treat this condition.
- Gene Therapy: Studies have demonstrated that systemic gene therapy can be effective in rescuing retinal dysfunction and hearing loss in animal models of Norrie disease [3][4]. This approach involves injecting a gene therapy designed to restore the missing norrin protein, which is essential for normal retinal angiogenesis.
- NDP Gene Therapy: A specific gene therapy targeting the NDP gene has shown significant promise in preventing further damage to hair cells and hearing in mice with Norrie disease [8][4]. This treatment aims to restore the normal function of the norrin protein.
Other Treatment Options
While gene therapy holds promise, other treatment strategies are also being explored:
- Early Laser Photocoagulation or Vitrectomy: In cases where retinal detachment is a concern, early surgical intervention may be necessary to prevent further damage [7].
- Surgery or Laser Therapy: Patients with Norrie disease who do not experience complete retinal detachment may benefit from surgery or laser therapy to manage their condition [9].
Future Directions
While these treatment options show promise, more research is needed to fully understand the efficacy and safety of gene therapy in humans. Ongoing studies will help determine the potential for these treatments to improve outcomes for individuals with Norrie disease.
References:
[3] by V Pauzuolyte · 2023 · Cited by 5 — Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease | EMBO Molecular Medicine. [4] Sep 5, 2023 — This new work shows that NDP gene therapy can be very effective in preventing further damage to the hair cells and hearing in Norrie disease in mice. [7] Nov 20, 2017 — Treatment strategies include early laser photocoagulation or vitrectomy to prevent retinal detachment. Patient with ND and hearing loss who ... [8] Aug 29, 2023 — This new work shows that NDP gene therapy can be very effective in preventing further damage to the hair cells and hearing in Norrie disease in mice. [9] Those that do not have complete retinal detachment may benefit from surgery or laser therapy. Enucleation of the eye may be required in rare cases. Hearing aids ...
Recommended Medications
- Gene Therapy
- NDP Gene Therapy
- Early Laser Photocoagulation or Vitrectomy
- Surgery or Laser Therapy
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis for Norrie disease includes several conditions that can present with similar symptoms, making it challenging to diagnose accurately. Some of the key conditions to consider in the differential diagnosis are:
- Retinoblastoma: A type of malignant tumor of the retina that occurs in children who are under the age of three. It is characterized by leukocoria (a cat's eye reflex) and can be painful in some cases [15].
- Familial exudative vitreoretinopathy (FEVR): A rare genetic disorder that affects the retina and can cause blindness [13].
- Persistent fetal vasculature (PFV): A condition where abnormal blood vessels persist in the eye after birth, leading to vision problems [13].
- Coats disease: A rare eye disorder characterized by abnormal blood vessel growth in the retina, leading to vision loss [9].
- Retinopathy of prematurity (ROP): A condition that affects premature infants and can cause blindness if left untreated [13].
It's worth noting that differential diagnosis for Norrie disease can be complex, and a thorough examination and genetic testing are often necessary to confirm the diagnosis. In some cases, patients may have been misdiagnosed with conditions like retinoblastoma or ROP when they actually had Norrie disease [14].
Additional Differential Diagnoses
Additional Information
- relatedICD
- http://example.org/icd10/H54.62
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060844
- oboInOwl#hasDbXref
- UMLS_CUI:C0266526
- oboInOwl#hasExactSynonym
- Norrie-Warburg disease
- IAO_0000115
- A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000149
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1807
- owl#annotatedSource
- t345718
- core#notation
- DOID:0060844
- rdf-schema#label
- Norrie disease
- rdf-schema#subClassOf
- t345675
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.