Question: What is (are) Norrie disease ?
Answer: 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. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. 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.
Source: GARD

Question: What are the symptoms of Norrie disease ?
Answer: What are the signs and symptoms of Norrie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Norrie disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Anterior chamber synechiae 90% Aplasia/Hypoplasia of the iris 90% Cataract 90% Chorioretinal abnormality 90% Deeply set eye 90% Hypotelorism 90% Macrotia 90% Narrow nasal bridge 90% Neoplasm of the eye 90% Opacification of the corneal stroma 90% Sclerocornea 90% Vascular neoplasm 90% Abnormality of the vitreous humor 50% Aplasia/Hypoplasia of the lens 50% Cognitive impairment 50% Erectile abnormalities 50% Nystagmus 50% Retinal detachment 50% Sensorineural hearing impairment 50% Stereotypic behavior 50% Venous insufficiency 50% Abnormality of immune system physiology 7.5% Abnormality of the diencephalon 7.5% Abnormality of the helix 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Cryptorchidism 7.5% Decreased body weight 7.5% Developmental regression 7.5% Diabetes mellitus 7.5% Ectopia lentis 7.5% EEG abnormality 7.5% Glaucoma 7.5% Hallucinations 7.5% Hyperreflexia 7.5% Hypertonia 7.5% Hypoplasia of the zygomatic bone 7.5% Involuntary movements 7.5% Microcephaly 7.5% Migraine 7.5% Muscle weakness 7.5% Muscular hypotonia 7.5% Optic atrophy 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Sleep disturbance 7.5% Thin vermilion border 7.5% Aggressive behavior - Blindness - Dementia - Hypoplasia of the iris - Intellectual disability, progressive - Microphthalmia - Psychosis - Retinal dysplasia - Retinal fold - Shallow anterior chamber - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What are the treatments for Norrie disease ?
Answer: How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost. Individuals without complete retinal detachment may benefit from intervention; however, vitrectomy and laser photocoagulation are reportedly challenging and often associated with poor outcome. A more recent case report reported evidence that immediate, prophylactic laser treatment at birth may prevent retinal detachment and blindness. The individual described in the study was known to be at risk and was diagnosed before birth via amniocentesis, and thus laser treatment shortly after birth was able to be performed. The authors of this report state that although the results they achieved are encouraging, longer observation of a larger number of patients is needed to determine the effectivness of this new approach. In some cases, surgery may be required when progression of the condition leads to increased pressure within the eye. Rarely, enucleation (removal) of the eye may be necessary to control pain. For individuals with hearing loss, hearing aid augmentation is usually successful until middle or late adulthood. Cochlear implants may be considered when function is severely impaired.
Source: GARD