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Macular vasculopathy and its evolution in incontinentia pigmenti
1Wilmer Ophthalmological Institute, Johns Hopkins University School of Medicine and Hospital, Baltimore, MD, USA.
Insights
Macular ischemia is a common and often progressive finding in incontinentia pigmenti (IP). This study describes the characteristic macular vasculopathy in IP patients.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Incontinentia pigmenti (IP) is a rare genetic disorder.
- IP affects multiple ectodermal structures, including the skin, hair, teeth, and central nervous system.
- Ocular manifestations in IP can lead to significant visual impairment.
Observation:
- This study evaluated macular vasculopathy in 12 infants with IP using fluorescein angiography.
- Nine eyes were analyzed for capillary changes, with angiography initiated as early as three months of age.
- Sequential angiography tracked changes in macular capillary patterns over time.
Findings:
- All evaluated maculas showed enlarged or distorted foveal avascular zones and sparse perifoveolar capillaries.
- Capillary closure was observed, ranging from stable to progressive.
- Complications included neovascularization, tractional retinal detachment, and central retinal artery occlusion.
Implications:
- Macular ischemia is a hallmark of incontinentia pigmenti, often progressing over time.
- The observed vasculopathy involves capillary remodeling, neovascularization, and potential retinal detachment.
- Early detection and monitoring of macular changes are crucial for managing visual outcomes in IP.
Purpose:
To describe macular vasculopathy in incontinentia pigmenti.
Methods:
Twelve baby girls with incontinentia pigmenti were evaluated under general anesthesia by fluorescein angiography of the macula. Nine eyes of nine patients had sufficient detail to allow evaluation of capillary changes. Angiography was initiated as early as three months of age, and was repeated in seven eyes at 3-12 month intervals. Changes in capillary patterns were identified.
Results:
Irregularly enlarged or distorted foveal avascular zones were noted in all nine maculas. Sparseness of the perifoveolar capillary bed was a characteristic finding. Sequential macular angiography demonstrated nonprogressive (stable) capillary closure in two eyes; progressive closure was noted in another macula; progressive closure plus addition or reopening of macular capillaries occurred in three eyes; and central retinal artery occlusion, with cherry red spot formation, was observed in one eye at 12 days of age. In addition, progressive tractional detachment of the macula, associated with bleeding pre-retinal neovascularization, occurred in two of these eyes, and progressive macular neovascularization also occurred in one eye.
Conclusions:
Macular ischemia is characteristic of incontinentia pigmenti and is often progressive. It is the initiating event of a typical vasculopathy, characterized by capillary remodelling and, occasionally, by neovascularization and tractional detachment of the retina.