Case Report: A Case of Cotton-Wool Spots After Intravitreal Injection of Conbercept in an Infant With Incontinentia Pigmenti

Liang, Li; Yang, Yongheng; Bu, Shaochong; Lu, Frank C.

doi:10.3389/fmed.2021.761398

Cited by 6 publications

(2 citation statements)

References 24 publications

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“…Of note, a recent case report utilizing conbercept to treat IP presented the development of cotton-wool spots in an infant one week after injection. These spots resolved within one month of treatment without apparent sequelae, but further research is required to evaluate the safety of anti-VEGF therapy in IP [36 ▪ ].…”

Section: Treatmentmentioning

confidence: 99%

Incontinentia pigmenti and the eye

Islam

Khurshid

2022

Current Opinion in Ophthalmology

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Purpose of Review:Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP is crucial to identify ocular abnormalities early and prevent permanent vision loss.Recent Findings:There have been significant recent advances in ocular diagnostic imaging in IP. Optical coherence tomography (OCT) has helped characterize outer plexiform layer abnormalities in the macula, which can help explain central vision loss in IP patients. OCT angiography (OCT-A) also identifies macular vascular changes that induce these foveal structural abnormalities and may supplement fluorescein angiography, the current standard of care to identify peripheral retinal ischemia and neovascularization for infants with IP. Additionally, recent studies have presented excellent anatomic outcomes years after laser photocoagulation to ischemic retina. Early data indicates that antivascular endothelial growth factor therapy can induce retinal revascularization, but runs the risk of late recurrent neovascularization and requires long-term monitoring.Summary:Ophthalmic imaging is evolving in the evaluation of IP and is increasingly guiding treatment modalities. A particular focus on the ocular manifestations of IP has been the ideal treatment for retinopathy in this disorder.

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Section: Treatmentmentioning

confidence: 99%

Incontinentia pigmenti and the eye

Islam

Khurshid

2022

Current Opinion in Ophthalmology

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“… 1–3 The typical clinical manifestations of the skin are divided into four periods, erythema and blisters, verrucous keratotic papules, plaques, pigmentation (Blaschko lines). 4 , 5 However, in some occult cases, the skin symptoms are not obvious, and the genetic test results of the parents are not necessarily positive. Only suggestive tests, such as retinal examination and cranial magnetic resonance, can be used.…”

Section: Introductionmentioning

confidence: 99%

Incontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result

Yuan,

Zhu,

Liu

et al. 2023

CCID

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Background Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is an X-linked dominant genetic disease involving multiple systems. Previous literature has not reported the case of parents with negative genetic test results, and typical early clinical symptoms and auxiliary inspection results were also lacking. Case Report A female child was found to have broken skin immediately after birth with no family inheritance disease, and the area of the broken skin increased. Immediately afterward, Head magnetic resonance imaging (MRI) showed multiple blood lesions in the brain. Then, the wide-angle digital retinal imaging system suggesting that fundus fluorescein angiography showed fundus vascular loop-like changes. And blood genetic testing showed that exons 4–10 of the NEMO gene located in Xq28 were deleted. The patient was eventually diagnosed with IP. However, her parents were a non-consanguineous healthy couple, with no specific skin, oral, or perineal diseases. And her parents’ blood genetic testing showed that the parents and sisters of the patient did not have the NEMO gene exon deletion of Xq28. Conclusion This case demonstrates the process from suspected neonatal IP cases without familial inheritance to diagnosis, which showed the typical early clinical symptoms and auxiliary inspection results. This case showed that the parents of patients with IP do not necessarily have clinical symptoms and positive symptoms of genetic testing results.

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