Journal article
VARIABLE EXPRESSION OF RETINOPATHY IN A PEDIGREE OF PATIENTS WITH INCONTINENTIA PIGMENTI
Retina (Philadelphia, Pa.), Vol.35(12), pp.2627-2632
12/2015
DOI: 10.1097/IAE.0000000000000615
PMID: 26035514
Abstract
To characterize the varied ocular manifestations of incontinentia pigmenti (IP) in a large pedigree. All available members of the kindred who were affected with IP were examined with ophthalmoscopy, wide-field color photos, and fluorescein angiography. Individual family members demonstrated variable expression of retinopathy characteristic of IP. There was severe retinopathy in two eyes: one associated with concurrent persistent fetal vasculature and another with rhegmatogenous retinal detachment. Another individual with biopsy-confirmed IP demonstrated no retinopathy in either eye. When present, retinopathy manifested asymmetrically between eyes of the same individual. Cutaneous manifestations of IP are irregular and nonuniform due to lyonization of the X chromosome. In this report, we identify asymmetric retinal disease between eyes in the same individual and variable retinal findings within the kindred. These differences may be explained by random inactivation of the X chromosome or other epigenetic modifications.
Details
- Title: Subtitle
- VARIABLE EXPRESSION OF RETINOPATHY IN A PEDIGREE OF PATIENTS WITH INCONTINENTIA PIGMENTI
- Creators
- Connie J Chen - Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MarylandIan C HanMorton F Goldberg
- Resource Type
- Journal article
- Publication Details
- Retina (Philadelphia, Pa.), Vol.35(12), pp.2627-2632
- Publisher
- United States
- DOI
- 10.1097/IAE.0000000000000615
- PMID
- 26035514
- ISSN
- 0275-004X
- eISSN
- 1539-2864
- Language
- English
- Date published
- 12/2015
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9983980076702771
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