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September 1996, Vol 114, No. 9 >
ARTICLE | September 1996

Norrie Disease: Title and subTitle BreakDiagnosis of a Simplex Case by DNA Analysis FREE

Thaddeus P. Dryja, MD; Lauri B. Hahn, MS; David S. Walton, MD; Emil W. Chynn, MD
Arch Ophthalmol. 1996;114(9):1136-1138. doi:10.1001/archopht.1996.01100140338018
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Comments

N orrie disease is a rare, X-linked recessive disorder characterized by congenital blindness due to malformed retinas. We describe a simplex patient who had leukokoria and whose clinical diagnosis was confirmed only after molecular genetics analysis. DNA analysis was also used to determine the carrier status of relatives of the proband.

REFERENCES

1 +
Meindl A, Berger W, Meitinger T, et al.  Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins . Nat Genet . 1992;;2:139-143.
2 +
Yandell DW, Dryja TP.  Direct genomic sequence of alleles at the human retinoblastoma locus: application to cancer diagnosis and genetic counseling . In: Furth M, Greaves M, eds. Cold Spring Harbor Symposium Series: Cancer Cells 7: Molecular Diagnostics of Human Cancer . Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 1989;:223-227.
3 +
Norrie G.  Causes of blindness in children: twenty-five years' experience of Danish institutes for the blind . Acta Ophthalmol Scand . 1927;;5:357-386.
4 +
Warburg M.  Norrie's disease: a new hereditary bilateral pseudotumor of the retina . Acta Ophthalmol Scand . 1961;;39:757-772.
5 +
Warburg M.  Norrie's disease: a congenital progressive oculo-acoustico-cerebral degeneration . Acta Ophthalmol Scand . 1966;;89:1-147.
6 +
Warburg M.  Norrie's disease . Birth Defects Original Article Ser . 1971;;7:117-124.
7 +
Holmes LB.  Norrie's disease: an X-linked syndrome of retinal malformation, mental retardation, and deafness . J Pediatr . 1971;;79:89-92.
8 +
Saini JS, Sharma A, Pillai P, Mohan K.  Norries disease . Ind J Ophthalmol . 1994;;40:24-26.
9 +
Nadol JB, Eavey RD, Liberfarb RM, et al.  Histopathology of the ears, eyes, and brain in Norrie's disease (oculoacousticocerebral degeneration) . Am J Otolaryngol . 1990;;11:112-124.
10 +
Enyedi LB, de Juan E, Gaitan A.  Ultrastructural study of Norrie's disease . Am J Ophthalmol . 1991;;111:439-445.
11 +
Berger W, Meindl A, va de Pol TJR, et al.  Isolation of a candidate gene for Norrie disease by positional cloning . Nat Genet . 1992;;1:199-203.
12 +
Chen ZY, Hendriks RW, Jobling MA, et al.  Isolation and characterization of a candidate gene for Norrie disease . Nat Genet . 1992;;1:204-208.
13 +
Meitinger T, Meindl A, Bork P, et al.  Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure . Nat Genet . 1993;;5:376-380.
14 +
Berger W, van de Pol D, Warburg M, et al.  Mutations in the candidate gene for Norrie disease . Hum Mol Genet . 1992;;1:461-465.
15 +
Wong F, Goldberg MF, Hao Y.  Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant . Arch Ophthalmol . 1993;;111:1553-1557.
16 +
Joos KM, Kimura AE, Vandenburgh K, Bartley JA, Stone EM.  Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene . Arch Ophthalmol . 1994;;112:1574-1579.
17 +
Fuchs S, Xu SY, Caballero M, et al.  A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease . Hum Mol Genet . 1994;;3:655-656.
18 +
Isashiki Y, Ohba N, Yanagita T, et al.  Mutations in the Norrie disease gene: a new mutation in a Japanese family . Br J Ophthalmol . 1995;;79:703-708.
19 +
Isashiki Y, Ohba N, Yanagita T, et al.  Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families . Hum Genet . 1995;;95:105-108.
20 +
Meindl A, Lorenz B, Achatz H, Hellebrand H, Schmitz-Valckenberg P, Meitinger T.  Missense mutations in the NDP gene in patients with a less severe course of Norrie disease . Hum Mol Genet . 1995;;4:489-490.
21 +
Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatrick MW.  X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis . Br J Ophthalmol . 1993;;77:168-170.
22 +
Chen ZY, Battinelli EM, Fielder A, et al.  A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy . Nat Genet . 1993;;5:180-183.

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1 +
Meindl A, Berger W, Meitinger T, et al.  Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins . Nat Genet . 1992;;2:139-143.
2 +
Yandell DW, Dryja TP.  Direct genomic sequence of alleles at the human retinoblastoma locus: application to cancer diagnosis and genetic counseling . In: Furth M, Greaves M, eds. Cold Spring Harbor Symposium Series: Cancer Cells 7: Molecular Diagnostics of Human Cancer . Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 1989;:223-227.
3 +
Norrie G.  Causes of blindness in children: twenty-five years' experience of Danish institutes for the blind . Acta Ophthalmol Scand . 1927;;5:357-386.
4 +
Warburg M.  Norrie's disease: a new hereditary bilateral pseudotumor of the retina . Acta Ophthalmol Scand . 1961;;39:757-772.
5 +
Warburg M.  Norrie's disease: a congenital progressive oculo-acoustico-cerebral degeneration . Acta Ophthalmol Scand . 1966;;89:1-147.
6 +
Warburg M.  Norrie's disease . Birth Defects Original Article Ser . 1971;;7:117-124.
7 +
Holmes LB.  Norrie's disease: an X-linked syndrome of retinal malformation, mental retardation, and deafness . J Pediatr . 1971;;79:89-92.
8 +
Saini JS, Sharma A, Pillai P, Mohan K.  Norries disease . Ind J Ophthalmol . 1994;;40:24-26.
9 +
Nadol JB, Eavey RD, Liberfarb RM, et al.  Histopathology of the ears, eyes, and brain in Norrie's disease (oculoacousticocerebral degeneration) . Am J Otolaryngol . 1990;;11:112-124.
10 +
Enyedi LB, de Juan E, Gaitan A.  Ultrastructural study of Norrie's disease . Am J Ophthalmol . 1991;;111:439-445.
11 +
Berger W, Meindl A, va de Pol TJR, et al.  Isolation of a candidate gene for Norrie disease by positional cloning . Nat Genet . 1992;;1:199-203.
12 +
Chen ZY, Hendriks RW, Jobling MA, et al.  Isolation and characterization of a candidate gene for Norrie disease . Nat Genet . 1992;;1:204-208.
13 +
Meitinger T, Meindl A, Bork P, et al.  Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure . Nat Genet . 1993;;5:376-380.
14 +
Berger W, van de Pol D, Warburg M, et al.  Mutations in the candidate gene for Norrie disease . Hum Mol Genet . 1992;;1:461-465.
15 +
Wong F, Goldberg MF, Hao Y.  Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant . Arch Ophthalmol . 1993;;111:1553-1557.
16 +
Joos KM, Kimura AE, Vandenburgh K, Bartley JA, Stone EM.  Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene . Arch Ophthalmol . 1994;;112:1574-1579.
17 +
Fuchs S, Xu SY, Caballero M, et al.  A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease . Hum Mol Genet . 1994;;3:655-656.
18 +
Isashiki Y, Ohba N, Yanagita T, et al.  Mutations in the Norrie disease gene: a new mutation in a Japanese family . Br J Ophthalmol . 1995;;79:703-708.
19 +
Isashiki Y, Ohba N, Yanagita T, et al.  Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families . Hum Genet . 1995;;95:105-108.
20 +
Meindl A, Lorenz B, Achatz H, Hellebrand H, Schmitz-Valckenberg P, Meitinger T.  Missense mutations in the NDP gene in patients with a less severe course of Norrie disease . Hum Mol Genet . 1995;;4:489-490.
21 +
Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatrick MW.  X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis . Br J Ophthalmol . 1993;;77:168-170.
22 +
Chen ZY, Battinelli EM, Fielder A, et al.  A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy . Nat Genet . 1993;;5:180-183.

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