Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband

Phoebe Lin; Suma P Shankar; Jacque Duncan; Anne Slavotinek; Edwin M Stone; Tina Rutar

doi:10.1016/j.jaapos.2009.11.012

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Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband

Journal article

Peer reviewed

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband

Phoebe Lin, Suma P Shankar, Jacque Duncan, Anne Slavotinek, Edwin M Stone and Tina Rutar

Journal of AAPOS, Vol.14(1), pp.93-96

02/2010

DOI: 10.1016/j.jaapos.2009.11.012

PMID: 20227630

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Abstract

Norrie disease (ND) is caused by mutations in the ND pseudoglioma (NDP) gene (MIM 300658) located at chromosome Xp11.4-p11.3. ND is characterized by abnormal retinal vascular development and vitreoretinal disorganization presenting at birth. Systemic manifestations include sensorineural deafness, progressive mental disorder, behavioral and psychological problems, growth failure, and seizures. Other vitreoretinopathies that are associated with NDP gene mutations include X-linked familial exudative vitreoretinopathy, Coats disease, persistent fetal vasculature, and retinopathy of prematurity. Phenotypic variability associated with NDP gene mutations has been well documented in affected male patients. However, there are limited data on signs in female carriers, with mild peripheral retinal abnormalities reported in both carrier and noncarrier females of families with NDP gene mutations. Here, we report a family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe ND phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in familial exudative vitreoretinopathy in his carrier mother.

Phenotype

Humans

Family Health

Infant

Macula Lutea - blood supply

Male

Nerve Tissue Proteins - genetics

Retinal Vessels - abnormalities

Point Mutation

Eye Diseases - genetics

Eye Proteins - genetics

Eye Diseases - pathology

Macula Lutea - pathology

Details

Title: Subtitle: Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband
Creators: Phoebe Lin - University of California, San Francisco
Suma P Shankar
Jacque Duncan
Anne Slavotinek
Edwin M Stone
Tina Rutar
Resource Type: Journal article
Publication Details: Journal of AAPOS, Vol.14(1), pp.93-96
DOI: 10.1016/j.jaapos.2009.11.012
PMID: 20227630
NLM abbreviation: J AAPOS
ISSN: 1091-8531
eISSN: 1528-3933
Publisher: United States
Grant note: EY002162-31 / NEI NIH HHS
Language: English
Date published: 02/2010
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979940102771

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