Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction

Cunha, Ana Maria; Breda, Jorge; Rocha‐Sousa, Amândio; Falcão‐Reis, Fernando; Santos-Silva, Renato

doi:10.1007/s10633-021-09824-0

Cited by 3 publications

(5 citation statements)

References 17 publications

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“…OCT-A is able to demonstrate macular vascular abnormalities that are missed on FA in the same eyes. These macular vascular abnormalities are present in both treatment-naïve eyes and eyes that have previously been treated with laser photocoagulation, indicating that these abnormalities are likely not due to remodeling after treatment [18 ▪ ,23].…”

Section: Ocular Diagnosticsmentioning

confidence: 90%

“…Recent use of optical coherence tomography angiography (OCT-A) demonstrates abnormalities of the superficial capillary plexus, and macular OCT highlights outer plexiform layer structural abnormalities. These findings occur both in patients who have been treated with laser photocoagulation and those who have not yet been treated, indicating that treatment itself does not induce these abnormalities [18 ▪ ].…”

Section: Retinal Manifestationsmentioning

confidence: 95%

“…Electroretinograms are not commonly performed in IP, but a recent case study demonstrated an electronegative electroretinogram, highlighting the macular and inner retinal dysfunction in IP. Additionally, macular OCT shows outer plexiform layer abnormalities, which provides a structural basis for foveal dysfunction and vision loss [18 ▪ ].…”

Section: Ocular Diagnosticsmentioning

confidence: 99%

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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: Ocular Diagnosticsmentioning

confidence: 90%

Section: Retinal Manifestationsmentioning

confidence: 95%

Section: Ocular Diagnosticsmentioning

confidence: 99%

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Incontinentia pigmenti and the eye

Islam

Khurshid

2022

Current Opinion in Ophthalmology

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“…[34,35] Son çalışmalarda IP hastalarındaki maküler patolojinin gösterilmesinde optik koherans anjiyografi ve elektroretinogramında yararlı olabildiğini göstermiştir. [36,37] Retina bulguları tipik olarak 2 yaşından önce ortaya çıktığından anestezi altında fundus floresein anjiyografi ile muayene gerektirir. Bununla birlikte, bir ofis ortamında temassız ultra geniş alan retinal görüntüleme de kullanılarak anjiyografik bilgiler elde edilebilir.…”

Section: Inkontinensia Pigmentiunclassified

Incontinentia Pigmenti and Norrie Disease: Pathogenesis, Diagnosis, and Treatment

2023

Güncel Retina (Current Retina)

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Incontinentia pigmenti is a very rare X-linked dominant inherited disease characterized by skin lesions, retinal pathologies, central nervous system anomalies, and dental problems. Norrie disease is a very rare X-linked recessive inherited disease characterized by severe vitreoretinal dysplasia in both eyes at birth. In both diseases, patients can apply to the clinic with nystagmus, leukocoria, microphthalmia, and retinal detachment at an early age. In this review, Incontinentia pigmenti and Norrie disease, which are pediatric retinal vascular diseases, are investigated in detail.

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“…Several case reports also revealed a non-perfusion area with a small FAZ in the SCP and DCP [ 90 , 91 ]. Hence, in a child diagnosed with IP with normal fundus examination, SD-OCT and OCTA can still detect a subtle abnormal microstructure and changes in vascular flow, respectively [ 92 ]. These findings may explain the visual impairment in some IP patients without tractional retinal detachment.…”

Section: Oct and Octa In Retinal Vascular Diseasesmentioning

confidence: 99%

Optical Coherence Tomography and Optical Coherence Tomography Angiography in Pediatric Retinal Diseases

et al. 2023

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Indirect ophthalmoscopy and handheld retinal imaging are the most common and traditional modalities for the evaluation and documentation of the pediatric fundus, especially for pre-verbal children. Optical coherence tomography (OCT) allows for in vivo visualization that resembles histology, and optical coherence tomography angiography (OCTA) allows for non-invasive depth-resolved imaging of the retinal vasculature. Both OCT and OCTA were extensively used and studied in adults, but not in children. The advent of prototype handheld OCT and OCTA have allowed for detailed imaging in younger infants and even neonates in the neonatal care intensive unit with retinopathy of prematurity (ROP). In this review, we discuss the use of OCTA and OCTA in various pediatric retinal diseases, including ROP, familial exudative vitreoretinopathy (FEVR), Coats disease and other less common diseases. For example, handheld portable OCT was shown to detect subclinical macular edema and incomplete foveal development in ROP, as well as subretinal exudation and fibrosis in Coats disease. Some challenges in the pediatric age group include the lack of a normative database and the difficulty in image registration for longitudinal comparison. We believe that technological improvements in the use of OCT and OCTA will improve our understanding and care of pediatric retina patients in the future.

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Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction

Cited by 3 publications

References 17 publications

Incontinentia pigmenti and the eye

Incontinentia pigmenti and the eye

Incontinentia Pigmenti and Norrie Disease: Pathogenesis, Diagnosis, and Treatment

Optical Coherence Tomography and Optical Coherence Tomography Angiography in Pediatric Retinal Diseases

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