Abstract
Norrie's disease, or congenital progressive oculo-acoustico-cerebral degeneration, is a rare X-linked recessive syndrome of retinal malformation, deafness, and mental retardation and/or deterioration. The natural history of the disorder in two families with five affected males, four living and one deceased, is described. The histopathology of two patients, one from each family, is reported. Differential diagnosis, treatment, and genetic counseling are discussed.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1445-1451 |
| Number of pages | 7 |
| Journal | Ophthalmology |
| Volume | 92 |
| Issue number | 10 |
| DOIs | |
| State | Published - Jan 1 1985 |
| Externally published | Yes |
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Keywords
- congenital progressive oculo-acoustico-cerebral degeneration
- genetic counseling
- Norrie's disease
- X-linked recessive inheritance
ASJC Scopus subject areas
- Ophthalmology
Cite this
Norrie's Disease : A Study of Two Families. / Liberfarb, Ruth M.; Eavey, Roland D.; De Long, G. Robert; Albert, Daniel; Dieckert, J. Paul; Hirose, Tatsuo.
In: Ophthalmology, Vol. 92, No. 10, 01.01.1985, p. 1445-1451.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Norrie's Disease
T2 - A Study of Two Families
AU - Liberfarb, Ruth M.
AU - Eavey, Roland D.
AU - De Long, G. Robert
AU - Albert, Daniel
AU - Dieckert, J. Paul
AU - Hirose, Tatsuo
PY - 1985/1/1
Y1 - 1985/1/1
N2 - Norrie's disease, or congenital progressive oculo-acoustico-cerebral degeneration, is a rare X-linked recessive syndrome of retinal malformation, deafness, and mental retardation and/or deterioration. The natural history of the disorder in two families with five affected males, four living and one deceased, is described. The histopathology of two patients, one from each family, is reported. Differential diagnosis, treatment, and genetic counseling are discussed.
AB - Norrie's disease, or congenital progressive oculo-acoustico-cerebral degeneration, is a rare X-linked recessive syndrome of retinal malformation, deafness, and mental retardation and/or deterioration. The natural history of the disorder in two families with five affected males, four living and one deceased, is described. The histopathology of two patients, one from each family, is reported. Differential diagnosis, treatment, and genetic counseling are discussed.
KW - congenital progressive oculo-acoustico-cerebral degeneration
KW - genetic counseling
KW - Norrie's disease
KW - X-linked recessive inheritance
UR - http://www.scopus.com/inward/record.url?scp=0022412938&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0022412938&partnerID=8YFLogxK
U2 - 10.1016/S0161-6420(85)33843-5
DO - 10.1016/S0161-6420(85)33843-5
M3 - Article
C2 - 4069610
AN - SCOPUS:0022412938
VL - 92
SP - 1445
EP - 1451
JO - Ophthalmology
JF - Ophthalmology
SN - 0161-6420
IS - 10
ER -