Near-infrared fundus autofluorescence-visualized melanin in the choroidal abnormalities of neurofibromatosis type 1

Ueda-Consolvo, Tomoko; Miyakoshi, Akio; Ozaki, Hironori; Houki, Satoshi; Hayashi, Atsushi

doi:10.2147/opth.s35321

Cited by 16 publications

(8 citation statements)

References 12 publications

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“…5 Among the cases of our cohort it is noteworthy that the patient with NF-1 clinical diagnosis had both normal FAF and SD-OCT images, as opposed to IR sequences in which striking hyperreflective patches were identified in the posterior pole, as it has previously described in NF-1. 9 Furthermore, in LORD patients, while in the advanced stage the FAF already detects fine perimacular mottling, in the incipient stage the FAF was normal but the SD-OCT and the BR and GR of the MCI showed numerous reticular pseudodrusen. As reticular pseudodrusen are a common finding in patients with age related macular degeneration and associated with a higher risk of development of choroidal neovascularization, 10 MCI may be also useful in this field.…”

Section: Discussionmentioning

confidence: 98%

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders

Lorenzana-Blanco

Jiménez-Rolando

Garcı́a-Sandoval

et al. 2022

European Journal of Ophthalmology

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Aim To describe the role of multicolour reflectance images (MCI) in the phenotypic diagnosis of inherited retinal disorders (IRDs). Methods A retrospective review of consecutive patients affected by IRDs examined with MCI techniques from January to December 2019 at a tertiary care referral centre. All patients had MCI, fundus autofluorescence and optical coherence tomography taken at the same time point. The ability of each modality to highlight clinical features was assessed. Lesions’ size was also measured and compared among imaging modalities. Results Thirty eyes of 15 patients were included in the study, 6 males and 9 females, with a mean age of 44 years (range: 19–57.5). The most frequent clinical diagnosis were: pattern dystrophies, and late-onset retinal degeneration. Next-generation or Sanger sequencing analysis was carried out in all patients. Blue and green reflectance were relevant in highlighting peripheral mottling in fundus albipunctatus, pseudoreticular drusen in late-onset retinal degeneration, parafoveal hyperreflective area in bull's eye maculopathy and crystals in Bietti's crystalline dystrophy. Likewise, it is to mention the ability of infrared reflectance to detect hyperreflective patches in posterior pole in neurofibromatosis type 1 and retinal changes in pattern dystrophies and cone dystrophies. Conclusion Multicolour imaging technique enables the detection of clinical features that could be overlooked by other imaging modalities, allowing accurate phenotypic characterisation of IRDs and guiding genetic diagnose, and may become a meaningful monitoring tool for future treatments.

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Section: Discussionmentioning

confidence: 98%

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders

Lorenzana-Blanco

Jiménez-Rolando

Garcı́a-Sandoval

et al. 2022

European Journal of Ophthalmology

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“…The prevalence of choroidal nodules detected by NIR was 71% in the paediatric population, a much higher frequency than the NIH ophthalmic diagnostic criteria of 43% for iris Lisch nodules [ 14 ]. Subsequent literature published on the topic confirmed NIR as a valid and reliable diagnostic imaging method in revealing choroidal abnormalities with a very high interobserver agreement in NF1 patients [ 15 – 17 ].…”

Section: Neuro-oculocutaneous Syndromes/phakomatosismentioning

confidence: 99%

Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients

Abdolrahimzadeh

Ciancimino

Grassi

et al. 2021

Journal of Ophthalmology

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Near-infrared reflectance (NIR) is a noninvasive, contactless, and rapid in vivo imaging technique for visualizing subretinal alterations in the photoreceptor layer, retinal pigment epithelium, and choroid. The present report describes the application of this imaging method in retinal and choroidal pathologies affecting young patients where scarce cooperation, poor fixation, and intense glare sensation can result in a challenging clinical examination. A literature search of the MEDLINE database was performed using the terms “near-infrared reflectance” and “spectral-domain optical coherence tomography.” Articles were selected if they described the diagnostic use of NIR in children or young adults. Of 700 publications, 42 manuscripts published between 2005 and 2020 were inherent to children or young adults and were considered in this narrative literature review. The first disease category is the phakomatoses where NIR is essential in visualizing choroidal alterations recognized as cardinal biomarkers in neurofibromatosis type 1, microvascular retinal alterations, and retinal astrocytic hamartomas. Another diagnostic application is the accurate visualization of crystals of various nature, including the glistening crystals that characterize Bietti crystalline dystrophy. Acute macular neuropathy and paracentral acute middle maculopathy represent a further disease category with young adulthood onset where NIR is not only diagnostic but also essential to monitor disease progression. A further interesting clinical application is to facilitate the detection of laser-induced maculopathy where funduscopic examination can be normal or subnormal. In conclusion, NIR imaging has a noninterchangeable role in diagnosing certain retinal diseases, especially in children and young adults where there is scarce collaboration and a lack of evident clinical findings. Moreover, this technique can reveal unique retinal and choroidal biomarkers highly specific to rare conditions.

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“…The cutoff value for choroidal nodules that can be detected by NIR was reported to be 1.5 [2]. Different imaging modalities, including NIR, near-infrared autofluorescence and optical coherence tomography (OCT), demonstrated that the choroid is affected by NF1 [3, 4, 5]. …”

Section: Introductionmentioning

confidence: 99%

Rare and Unusual Choroidal Abnormalities in a Patient with Systemic Lupus Erythematosus

Makino¹,

Tampo²

2013

Case Rep Ophthalmol

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Purpose: To report a case of rare and unusual choroidal abnormalities in a 42-year-old woman with systemic lupus erythematosus (SLE). Methods: Images were obtained using fundus photography, fluorescein angiography, near-infrared reflectance (NIR) imaging, and optical coherence tomography (OCT). Results: The patient had a history of SLE and central retinal artery occlusion in her right eye. Fundus examination showed no specific retinochoroidal abnormalities, with the exception of optic disc atrophy in her right eye and a peripapillary small hemorrhage in her left eye. However, NIR revealed multiple bright patchy lesions in the choroid of the posterior pole and the mid-periphery of the fundus in both eyes. OCT demonstrated irregular hyperreflectivity at the lesion sites. Conclusions: The observed choroidal abnormalities are highly specific findings and therefore indicative of neurofibromatosis type 1 (NF1). Since the coexistence of SLE and NF1 is extremely rare, this case provided the chance to examine the relationship between SLE and NF1.

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Near-infrared fundus autofluorescence-visualized melanin in the choroidal abnormalities of neurofibromatosis type 1

Cited by 16 publications

References 12 publications

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders

Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients

Rare and Unusual Choroidal Abnormalities in a Patient with Systemic Lupus Erythematosus

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