Foveal hypoplasia and other ocular signs: A possible case of incontinentia pigmenti? [3]

Archives of Ophthalmology

Volumn 121, Issue 6, 2003, Pages 921-

  Chen, Simon D ^a   Hanson, Richard ^a   Hundal, Kulwinder ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; DISEASE ASSOCIATION; HUMAN; HYPOPLASIA; INCONTINENTIA PIGMENTI; LETTER; MUTATIONAL ANALYSIS; OPTICAL COHERENCE TOMOGRAPHY; PRIORITY JOURNAL; RETINA FOVEA; X CHROMOSOME ABERRATION; X CHROMOSOME LINKAGE;

DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; EYE ABNORMALITIES; FEMALE; FOVEA CENTRALIS; HUMANS; INCONTINENTIA PIGMENTI; MIDDLE AGED; TOMOGRAPHY; VISUAL ACUITY;

EID: 0347906162     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.121.6.921     Document Type: Letter

References (4)

1. Recchia FM, Carvalho-Recchia CA, Trese MT. Optical coherence tomography in the diagnosis of foveal hypoplasia. Arch Ophthalmol. 2002;120:1587-1588.
2. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993;30:53-59.
3. Holmstrom G, Thoren K. Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol Scand. 2000;78:348-353.
4. Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti: the International Incontinentia Pigmenti (IP) Consortium. Nature. 2000;405:466-472.