Multimodal imaging of congenital retinal macrovessel with secondary foveal hypoplasia

Kohli, Piyush; Mishra, Chitaranjan; Baliga, Girish; Rajan, Renu P

doi:10.1136/bcr-2022-249563

Cited by 2 publications

(1 citation statement)

References 13 publications

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“…FH can manifest as an isolated condition or in conjunction with other clinical presentations, such as albinism, aniridia, retinopathy of prematurity, incontinentia pigmenti, achromatopsia, optic nerve hypoplasia, familial exudative vitreoretinopathy, congenital retinal macrovessels, and Stickler syndrome [1][2][3][4]. The clinical profile of FH often encompasses nystagmus and variable visual acuity.…”

Section: Introductionmentioning

confidence: 99%

Characterizing Foveal Hypoplasia Using Optical Coherence Tomography Angiography: Evaluation of Microvascular Abnormalities and Clinical Significance

Storp,

Zimmermann,

Danzer

et al. 2023

JCM

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This study aimed to evaluate foveal avascular zone (FAZ) features and macular flow density (FD) in various retinal layers in a cohort of patients with foveal hypoplasia (FH) using optical coherence tomography angiography (OCTA), in order to characterize microvascular abnormalities and explore their potential clinical significance. FAZ parameters and FD, as well as retinal thickness and volume values were analyzed and compared between patients with FH and an age- and gender-matched control cohort. Correlations between disease severity and visual acuity (VA), as well as between disease severity and FAZ features were evaluated. A total of 19 eyes with FH and 19 control eyes were included. The study group showed significantly higher FD values in the foveal sectors of the superficial and deep capillary plexus compared to controls. FAZ area, perimeter, and acircularity index (ACI) were noticeably altered in eyes with FH; however, they did not correlate with disease severity. Visual acuity was negatively correlated with disease severity. The results of this study provide evidence of altered microvasculature architecture specifically in the foveal sectors of patients with FH. The higher FD values in the foveal sectors of FH patients suggest a potential compensatory response of the retinal microvasculature. FAZ parameters and FD values of the foveal sectors could be used as part of an OCTA-based grading system in FH patients.

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Section: Introductionmentioning

confidence: 99%

Characterizing Foveal Hypoplasia Using Optical Coherence Tomography Angiography: Evaluation of Microvascular Abnormalities and Clinical Significance

Storp,

Zimmermann,

Danzer

et al. 2023

JCM

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Isolated Foveal Hypoplasia: A Case Report

Ivanovska Adjievska,

Buckoska

2023

MEDIS

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Foveal hypoplasia is a retinal disorder in which the foveal pit of the macula lutea is incompletely developed and is characterized by nystagmus and low visual acuity. It can manifest itself in isolation, without a clear etiology, or associated with other conditions such as albinism, aniridia, Stickler Syndrome, optic nerve hypoplasia, microphtalmus, etc. Modern retinal imaging technologies are key to diagnosis of this rare retinal disorder. We present a case of a 19-year-old woman with poor distance and near vision and nystagmus since childhood, without other associated diseases. Visual acuity was 0.5 Snellen decimal units in both eyes, with present latent nystagmus. The anterior segment was normal, while an absent foveal reflex was found on fundus examination. Optical coherence tomography (OCT) imaging confirmed the absence of foveal depression in the macular area. OCT-angiography (OCTA) was performed, which confirmed the absence of a foveal avascular zone in the macula. According to the proposed grading system parameters for foveal hypoplasia, this case corresponds with the most severe (grade 4) degree of foveal hypoplasia. Foveal hypoplasia can be associated with numerous etiological factors, and visual acuity can vary depending on the development of foveal photoreceptors and structural gradation. For this reason, especially in children with reduced visual acuity of unknown etiology and the existence of nystagmus, it is recommended to perform additional examinations and use multimodal imaging techniques (OCT and OCTA) in order to make a timely and accurate diagnosis. Management of this disorder includes treatment of the associated ocular and systemic conditions, refractive correction, treatment of amblyopia and use of low vision aids.

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Multimodal imaging of congenital retinal macrovessel with secondary foveal hypoplasia

Cited by 2 publications

References 13 publications

Characterizing Foveal Hypoplasia Using Optical Coherence Tomography Angiography: Evaluation of Microvascular Abnormalities and Clinical Significance

Characterizing Foveal Hypoplasia Using Optical Coherence Tomography Angiography: Evaluation of Microvascular Abnormalities and Clinical Significance

Isolated Foveal Hypoplasia: A Case Report

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