AudiologyOnline Phone: 800-753-2160
HearUSA Network Banner

Norrie Disease

Cindy B. Pichler, AuD, CCC-A, FAAA

June 7, 2010

Share:

Question

What is Norrie Disease and what are the audiologic and/or vestibular findings associated with this disorder?

Answer

Norrie Disease is a rare medical condition primarily known for its ocular symptoms. This X-linked recessive inherited disease causes irreversible blindness at or very soon after birth. Partial or complete retinal detachment usually occurs first with a variety of other ocular conditions following. A vascular mass behind the lens results from immature retinal cells filling up space at the back of the eye. Cataracts, iris atrophy, adhesions, corneal opacification, and reduction of globe size are typical during the course of the disease. Eye pain may result. Hearing impairment, as well as cognitive, developmental, mental, behavioral, and medical problems are also known to occur in some individuals diagnosed with this condition.

Mutations or deletions in the NDP gene are believed to cause Norrie Disease. The gene provides instructions to a protein called norrin. Norrin protein is thought to regulate the vascularization of the retina, cochlea, and other systems. Interference with the norrin protein affects the systems and the development and health of supporting structures.

Sensorineural hearing loss occurs in 30% or more of individuals with Norrie Disease. The vasculature to the cochlea is believed to be affected resulting in stria vascularis dysfunction and hearing loss. The loss typically begins in childhood. It often begins as a mild, asymmetric loss progressing to a more severe, symmetrical loss by the individual's third decade of life. Though vestibular disorders have not been reported in the literature, it is plausible that the vascular and development issues described for the eye and hearing systems may also impact the vestibular system.

Appropriate medical care and early intervention can help assist the individual with Norrie Disease make gains in development. Communication options, hearing aids, cochlear implants, and aural rehabilitation can be explored in relation to the patient's current needs and prognosis.

Websites related to Norrie Disease: www.norries.org and ghr.nlm.nih.gov/condition=norriedisease

Cindy B. Pichler, Au.D., has been an audiologist for more than 20 years. She specializes in pediatric diagnostic audiology in Chicago, Illinois and works with many families who have children with diseases and syndromes that effect hearing and balance. Dr. Pichler serves on the advisory boards of the Healthy Hearing Journal and AudiologyOnline and the Review Board for Audiology Online. She can be contacted via the Audiology Online website.


cindy b pichler

Cindy B. Pichler, AuD, CCC-A, FAAA

pediatric audiologist

Cindy B. Pichler, Au.D., CCC-A, FAAA is a pediatric audiologist specializing in behavioral diagnostics, family counseling/advocacy, and aural (re)habilitation. She has over twenty years of experience in pediatric audiology and was one of the first audiologists in Illinois to be certified as an Early Intervention Provider. Previously, she worked as an audiologist with a private organization helping individuals with developmental disabilities and then at a university clinic. She is an Au.D. preceptor for interns at more than four universities.  Recently, Dr. Pichler spearheaded the movement for updating all intake forms and informational handouts/materials for the parents of her patients. She holds at Clinical Doctorate Degree from the Arizona School of Health Sciences at A.T. Still University.


Related Courses

Sudden Sensorineural Hearing Loss: Diagnosis and Treatment
Presented by Daniel Zeitler, MD, FACS
Recorded Webinar
AudiologyOnline

Presenter

Daniel Zeitler, MD, FACS
Course: #32026Level: Advanced1 Hour
  'Good refresher'   Read Reviews
This course will review the background and epidemiology of sudden sensorineural hearing loss (SSNHL). Identifiable causes, evaluation, and medical treatment options will also be discussed during this one-hour course.

View this Course for FREE.
Need CEUs? Become a AudiologyOnline member to get unlimited CEUs.

Only $99/yr

Learn More

Otoscopy for Audiologists
Presented by Robert A. Battista, MD, F.A.C.S
Recorded Webinar
AudiologyOnline

Presenter

Robert A. Battista, MD, F.A.C.S
Course: #21034Level: Introductory1 Hour
  'The detailed descriptions of signs/symptoms, pictures, clinical prognosis'   Read Reviews
This will be a slide presentation showing otoscopy photos of the ear, to review normal otoscopic ear anatomy, as well as several common and some uncommon pathologies of the ear as identified otoscopically. (NOTE: for the first 10 minutes there is poor sound quality although the presenter is intelligible, and the quality is corrected at the 10 minute mark).

View this Course for FREE.
Need CEUs? Become a AudiologyOnline member to get unlimited CEUs.

Only $99/yr

Learn More

Medical/Surgical Options for Conductive and Mixed Hearing Losses
Presented by Jill Messina, AuD, CCC-A, Robert A. Battista, MD, F.A.C.S
Recorded Webinar
AudiologyOnline

Presenters

Jill Messina, AuD, CCC-ARobert A. Battista, MD, F.A.C.S
Course: #21174Level: Intermediate1 Hour
  'surgical videos were especially interesting and informative'   Read Reviews
This will be a slide presentation describing the causes of, and the treatment options for, conductive/mixed hearing loss. The presentation will include brief videos of the mechanics of ossicular reconstruction and surgical reconstruction of the ossicles including stapedectomy.

View this Course for FREE.
Need CEUs? Become a AudiologyOnline member to get unlimited CEUs.

Only $99/yr

Learn More

Back to Basics: Pure Tone Testing and Audiogram Interpretation
Presented by L. Maureen Valente, PhD
Recorded Webinar
AudiologyOnline

Presenter

L. Maureen Valente, PhD
Course: #22838Level: Introductory1 Hour
  'Please do more of these Back to Basics courses'   Read Reviews
No CEUs/Hours Offered
This presentation will describe best practices in pure-tone audiometry to ensure that results are valid. Further, the audience will learn important interpretation principles including determination of type, magnitude, configuration and symmetry of hearing loss.This course is recommended for students or for professionals returning to clinical work after an absence who would like a review of best practices in pure tone audiometry.

View this Course for FREE.
Need CEUs? Become a AudiologyOnline member to get unlimited CEUs.

Only $99/yr

Learn More

Advanced Management of Complex Cases: Usher Syndrome
Presented by Jolie Fainberg
Recorded Webinar
Advanced Bionics

Presenter

Jolie Fainberg
Course: #25416Level: Intermediate1 Hour
  'relevant and clear information presented'   Read Reviews
The purpose of this presentation is to educate the audiologist about Usher Syndrome and its relevance to newly identified children and their families.

Please note: You may earn ABA Tier 1 credits for this course if you complete it as part of the course 26683, "Advanced Management of Complex Cases." Course 26683 contains recordings of all three events from Advanced Bionic's 2015 series, Advanced Management of Complex Cases. ABA Tier 1 CEUs can be earned only when all modules are completed as part of course 26683.

View this Course for FREE.
Need CEUs? Become a AudiologyOnline member to get unlimited CEUs.

Only $99/yr

Learn More