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$Unique_ID{BRK04057}
$Pretitle{}
$Title{Norrie Syndrome}
$Subject{Norrie Syndrome Norrie Disease NDP ND Anderson-Warburg Syndrome
Whitnall-Norman Syndrome Fetal Iritis Syndrome Oligophrenia Microphthalmos
Atrophia Bulborum Hereditaria Chromosome Thirteen Trisomy Syndrome Retinal
Dysplasia Usher Syndrome}
$Volume{}
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.

568:
Norrie Syndrome

** IMPORTANT **
It is possible that the main title of the article (Norrie Syndrome) is
not the name you expected.  Please check the synonym list to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Norrie Disease
     NDP
     ND
     Anderson-Warburg Syndrome
     Whitnall-Norman Syndrome
     Fetal Iritis Syndrome
     Oligophrenia Microphthalmos
     Atrophia Bulborum Hereditaria

Information on the following diseases can be found in the Related
Disorders section of this report:

     Chromosome Thirteen Trisomy Syndrome
     Retinal Dysplasia
     Usher Syndrome

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

Norrie Syndrome is a sex linked hereditary disorder which is
characterized by blindness at birth.  Deafness, diabetes and mental
retardation may also occur.  The lens of the eye is initially clear but may
become covered by cataracts.  Shrinking of the eyeball (phthisis bulbi) is
usually apparent by the age of ten.

Symptoms

Norrie Syndrome is characterized by blindness in both eyes at birth.  A white
membrane (cataract) grows over the lens, followed later by shrinking of the
eyeballs (Phthisis bulbi).  The front chamber inside the eye is small and the
pupil has no light reflex.  The iris tends to adhere abnormally to the
crystalline lens.  A grey membrane or grey-yellow opaque mass with blood
vessels is apparent behind the lens.  Elongated hair-like attachments
(ciliary) are often visible on the opposite side of the pupil.  There may be
retinal folds, detached retinas and pseudotumor (false tumor) formations
inside the eyeball.  By the age of ten years shrinking of the eye ball
becomes apparent.  By the age of fifty the lens is usually completely covered
by cataracts.  Patients may also have hearing loss, diabetes and/or mental
retardation.

Causes

Norrie Syndrome is inherited as a recessive X-linked trait.  (Human traits
including the classic genetic diseases, are the product of the interaction of
two genes for that condition, one received from the father and one from the
mother.  X-linked recessive disorders are conditions which are coded on the X
chromosome.  Females have two X chromosomes, but males have one X chromosome
and one Y chromosome.  Therefore in females, disease traits on the X
chromosome can be masked by the normal gene on the other X chromosome.  Since
males have only one X chromosome, if they inherit a gene for a disease
present on the X, it will be expressed.  Men with X-linked disorders transmit
the gene to all their daughters, who are carriers, but never to their sons.
Women who are carriers of an X-linked disorder have a fifty percent risk of
transmitting the carrier condition to their daughters, and a fifty percent
risk of transmitting the disease to their sons.)

Affected Population

Norrie Syndrome is a rare disease affecting only males.

Related Disorders

Symptoms of the following disorders can be similar to those of Norrie
Syndrome.  Comparisons may be useful for a differential diagnosis:

Trisomy 13 Syndrome is a genetic disorder.  It affects infants who tend
to be small at birth.  Spells of interrupted breathing (apnea) during early
infancy are frequent, and mental retardation is usually severe.  Many
affected children appear to be deaf.  A moderately small head with sloping
forehead, wide joints, and openings between the parietal bones of the head
are present.  The entire eye is usually small and a defect of the iris tissue
and faulty development of the retina occur frequently.  Cleft lip, cleft
palate, or both are present in most cases.  The ears are abnormally shaped
and unusually low-set.  (For more information on this disorder, choose
"Trisomy 13" as your search term in the Rare Disease Database).

Retinal Dysplasia is a hereditary condition characterized by an elevated
retinal fold arising from the optic disc covering the macular area inside the
eye, and widening toward the temporal fundus, which may cause blindness.
This condition is thought to be inherited.

Usher Syndrome is characterized by nerve deafness as well as Retinitis
Pigmentosa, a degeneration of the eye's retina leading to progressive loss of
vision.  The deafness may be complete or mild, and usually does not progress.
Retinitis Pigmentosa can begin during childhood or later in life.  Studies
show that clear central vision may be maintained for many years even while
pheripheral vision decreases.  In some cases, the hearing and vision problems
may be accompanied by mental retardation, psychosis, disturbances in walking
related to inner ear problems, or cataracts.  (For more information on this
disorder, choose "Usher" and "RP" as your search terms in the Rare Disease
Database).

Therapies:  Standard

Treatment of Norrie Syndrome involves surgery to reattach the retina when and
if it becomes necessary.  In the cases of hearing loss the use of hearing
aids is often recommended.  Agencies providing services for vision and
hearing impaired persons may be of benefit.  Genetic counseling will be of
benefit for patients and their families.  Other treatment is symptomatic and
supportive.

Therapies:  Investigational

This disease entry is based upon medical information available through
November 1988.  Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate.  Please check with the agencies listed in the Resources section for
the most current information about this disorder.

Resources

For more information on Norrie Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     NIH/National Eye Institute (NEI)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     Eye Research Institute of Retina Foundation
     20 Staniford St.
     Boston, MA  02114
     [phone]

     National Federation of the Blind
     1800 Johnson Street
     Baltimore, MD  21230
     [phone]
     [phone]

     American Council of the Blind, Inc. (ACB)
     1155 - 15th St., NW, Suite 720
     Washington, D.C.  20005
     [phone]
     [phone]

     American Foundation for the Blind (AFB)
     15 W. 16th St.
     New York, NY  10011
     [phone]

          Regional offices:
          Atlanta, GA  [phone]
          Chicago, IL  [phone]
          Dallas, TX  [phone]
          San Francisco, CA  [phone]

     Vision Foundation, Inc.
     818 Mt. Auburn Street
     Watertown, MA  02172
     [phone]
     1-800-852-3029 (Inside Massachusetts)

     National Association for Parents of the Visually Impaired, Inc.
     P.O. Box 180806
     Austin, TX  78718
     [phone]

(For braille or recorded publications contact)

     National Library Service for the Blind and Physically Handicapped
     Library of Congress
     1291 Taylor Street NW
     Washington, DC  20542
     [phone]

     Retinitis Pigmentosa Foundation Fighting Blindness
     1401 Mt. Royal Avenue
     Baltimore, MD 21217
     [phone]
     [phone]

     National Association for Parents of the Visually Impaired (NAPVI)
     3329 Northaven Rd.
     Dallas, TX  75229
     [phone]

     National Association for the Visually Handicapped (NAVH)
     305 East 24th Street
     New York, NY  10010
     [phone]
     or
     3201 Balboa Street
     San Francisco, CA  94121
     [phone]

     American Humane Association
     P.O. Box 1266
     Denver, CO  80201  (For Trained Hearing Dogs)

     Deafness Research Foundation
     55 East 34th Street
     New York, NY  10016
     [phone]

     Deaf Communications Institute (DCI)
     P.O. Box 247
     Fayville, MA  01745
     [phone] (Voice & TDD)

     National Information Center on Deafness
     Gallaudet College
     Kendall Green
     Washington, DC  20002
     Voice & tdd phone [phone]

     National Association of the Deaf
     814 Thayer Avenue
     Silver Spring, MD  20910
     [phone]

     American Society for Deaf Children
     814 Thayer Avenue
     Silver Spring, MD  20910
     [phone]  Voice/TTY

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 7th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp. 1449.

NORRIE'S DISEASE:  M. Warburg, Birth Defects (March, 1971, issue 7 (3)).
Pp. 117-124.

FALCIFORM FOLD, RETINAL DETACHMENT, AND NORRIE'S DISEASE:  H.N. Jacklin,
Am J Ophthalmol (July, 1980, issue 90 (1)).  Pp. 76-80.

NORRIE DISEASE CAUSED BY A GENE DELETION ALLOWING CARRIER DETECTION AND
PRENATAL DIAGNOSIS:  A. de la Chapelle, et al,; Clin Genet (October, 1985,
issue 28 (4)).  Pp. 317-320.

NORRIE'S DISEASE:  A STUDY OF TWO FAMILIES:  R.M. Liberfarb, et al.;
Ophthalmology (October, 1985, issue 92 (10)).  Pp. 1445-1451.