Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti
Shiro Nakao1, Sachiko Nishina1, Shin Tanaka1
1Laboratory for Visual Science, Department of Ophthalmology, National Center for Child Health and Development, 2-10-1 Okura Setagaya-ku, Tokyo, Japan.
Insights
Severe retinopathy in infants with incontinentia pigmenti (IP) affects the posterior pole and fovea. Early wide-angle fundus fluorescein angiography (FA) is crucial for detecting signs of this condition in newborns.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Incontinentia Pigmenti (IP) is a rare genetic disorder.
- IP can cause significant ocular complications, including severe retinopathy.
- Early diagnosis and intervention are critical for managing retinopathy in IP patients.
Purpose of the Study:
- To characterize the clinical features of severe retinopathy in infants with IP.
- To evaluate treatment outcomes for retinopathy in IP.
- To highlight the importance of early ocular screening in infants with IP.
Main Methods:
- Retrospective clinical study of three infants with IP.
- Ophthalmologic examinations including wide-angle fluorescein angiography (FA), OCT, and OCTA.
- Treatment with laser photocoagulation.
Main Results:
- Prominent vascular tortuosity, retinal hemorrhages, and incomplete vascular development were observed.
- Extensive retinal avascularity, including the posterior pole, was noted in most eyes.
- Laser photocoagulation stabilized retinopathy in five eyes, but foveal anomalies persisted in some.
Conclusions:
- Severe retinopathy in IP affects the posterior pole and fovea, linked to vascular maldevelopment.
- Wide-angle fundus FA is recommended for early detection of retinopathy in infants with IP.
- Prompt screening and treatment can help manage this severe ocular condition.
Purpose:
To describe the clinical features and treatment outcomes of severe retinopathy in eyes with incontinentia pigmenti (IP) of infants within a few months of birth.
Study Design:
Retrospective clinical study.
Methods:
Six eyes of three patients (6-day-old girl, 5-month-old girl, and 14-day-old boy) with IP were examined and treated under general anesthesia. Ophthalmologic examinations were performed including images from wide-angle fluorescein angiography (FA), swept-source optical coherence tomography (OCT), and OCT angiography (OCTA).
Results:
Ophthalmoscopy showed prominent vascular tortuosity in five eyes, retinal hemorrhages in four eyes, and incomplete vascular development in two eyes. FA showed extensive avascularity including the posterior pole of the retina in all cases except one eye. Prompt and intensive laser photocoagulation stabilized the pre-proliferative severe retinopathy in five eyes; however, foveal structure and vessel anomalies were detected in three of six eyes by OCT and two of five eyes by OCTA.
Conclusion:
Severe retinopathy in the neonatal period and infancy was present not only in the periphery but also in the posterior pole including the fovea, which might be related to retinal vascular maldevelopment. It is, therefore, recommended that wide-angle fundus FA examination be performed in the early postnatal period to detect early signs of severe retinopathy in infants with IP.
