scholarly journals Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome

2015 ◽  
Vol 6 (2) ◽  
pp. 210-215 ◽  
Author(s):  
Natsuko Mano ◽  
Tatsuma Mitsutsuji ◽  
Yamato Yoshikawa ◽  
Makiko Miyamoto ◽  
Hiroko Watanabe ◽  
...  

Purpose: Walker-Warburg syndrome (WWS) is a type of congenital muscular dystrophy (CMD) characterised by severe brain malformation, lissencephaly, and congenital eye abnormalities. Despite the coexistence of various eye abnormalities, results from optical coherence tomography (OCT) in WWS have not previously been reported. We herein report specific OCT findings in an infant with WWS. Patients and Methods: The patient was a 14-day-old boy delivered by caesarean section at 38 weeks and 4 days of gestation and with a birth weight of 2,543 g. A cranial MRI showed lissencephaly, hydrocephalus, an encephalocele, and cerebellar hypoplasia, consistent with the diagnosis of WWS. Results: A bilateral ocular examination showed no abnormalities of the anterior eye segment. A fundus examination showed a persistent hyaloid artery in the vitreous cavity, a widespread loss of fundus pigmentation, transparent choroidal vessels (some choroidal vessel sections were visible), and the absence of a distinct macular reflex. OCT showed no foveal pit and an indistinct laminar structure of the retina. The infant subsequently developed congenital glaucoma and he then died of respiratory failure at the age of 8 months. Conclusions: WWS is associated with a high incidence of congenital eye abnormalities, and this infant showed findings consistent with WWS. OCT revealed a marked retinal dysplasia.

2021 ◽  
pp. 153537022110285
Author(s):  
Hao Zhou ◽  
Tommaso Bacci ◽  
K Bailey Freund ◽  
Ruikang K Wang

The choroid provides nutritional support for the retinal pigment epithelium and photoreceptors. Choroidal dysfunction plays a major role in several of the most important causes of vision loss including age-related macular degeneration, myopic degeneration, and pachychoroid diseases such as central serous chorioretinopathy and polypoidal choroidal vasculopathy. We describe an imaging technique using depth-resolved swept-source optical coherence tomography (SS-OCT) that provides full-thickness three-dimensional (3D) visualization of choroidal anatomy including topographical features of individual vessels. Enrolled subjects with different clinical manifestations within the pachychoroid disease spectrum underwent 15 mm × 9 mm volume scans centered on the fovea. A fully automated method segmented the choroidal vessels using their hyporeflective lumens. Binarized choroidal vessels were rendered in a 3D viewer as a vascular network within a choroidal slab. The network of choroidal vessels was color depth-encoded with a reference to the Bruch’s membrane segmentation. Topographical features of the choroidal vasculature were characterized and compared with choroidal imaging obtained with indocyanine green angiography (ICGA) from the same subject. The en face SS-OCT projections of the larger choroid vessels closely resembled to that obtained with ICGA, with the automated SS-OCT approach proving additional depth-encoded 3D information. In 16 eyes with pachychoroid disease, the SS-OCT approach added clinically relevant structural details, including choroidal thickness and vessel depth, which the ICGA studies could not provide. Our technique appears to advance the in vivo visualization of the full-thickness choroid, successfully reveals the topographical features of choroidal vasculature, and shows potential for further quantitative analysis when compared with other choroidal imaging techniques. This improved visualization of choroidal vasculature and its 3D structure should provide an insight into choroid-related disease mechanisms as well as their responses to treatment.


Eye ◽  
2019 ◽  
Vol 33 (8) ◽  
pp. 1232-1239 ◽  
Author(s):  
Anastasia V. Pilat ◽  
Frank A. Proudlock ◽  
Sonal Shah ◽  
Viral Sheth ◽  
Ravi Purohit ◽  
...  

Author(s):  
Lucía Perucho-González ◽  
José María Martínez de la Casa ◽  
Federico Sáenz-Francés ◽  
Laura Morales-Fernandez ◽  
Carmen Dora Méndez-Hernández ◽  
...  

2009 ◽  
Author(s):  
Johannes Jungwirth ◽  
Bernhard Baumann ◽  
Michael Pircher ◽  
Erich Götzinger ◽  
Christoph K. Hitzenberger

2013 ◽  
Vol 98 (2) ◽  
pp. 162-165 ◽  
Author(s):  
Sangeetha Srinivasan ◽  
Uday K Addepalli ◽  
Harsha L Rao ◽  
Chandra S Garudadri ◽  
Anil K Mandal

2009 ◽  
Vol 17 (5) ◽  
pp. 3980 ◽  
Author(s):  
Yoshiaki Yasuno ◽  
Masahiro Yamanari ◽  
Keisuke Kawana ◽  
Testuro Oshika ◽  
Masahiro Miura

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