Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases

Background. To describe ocular manifestations, imaging characteristics, and genetic test results of autosomal recessive bestrophinopathy (ARB). The study design is an observational case series. Methods. Forty-eight eyes of 24 patients diagnosed with ARB underwent complete ophthalmic examinations including refraction, anterior and posterior segment examination, enhanced depth imaging optical coherence tomography (EDI-OCT), fluorescein angiography (FA), electroretinography (ERG), and electrooculography (EOG). Optical coherence tomography angiography (OCTA) and BEST1 gene sequencing were performed in selected patients. Results. The age at onset was 4–35 years (mean: 18.6 years). The male-to-female ratio was 0.45. All patients were hyperopic, except one with less than one diopter myopia. EOG was abnormal in 18 cases with near-normal ERGs. Six patients did not undergo EOG due to their young age. Eighteen patients (75%) had a thick choroid on EDI-OCT, of which three had advanced angle-closure glaucoma, 15 patients were hyperopic, and eight of them had more than four diopters hyperopia in both eyes. Macular retinoschisis was observed in 46 eyes of 23 patients (95%) with cysts mostly located in the inner nuclear layer (INL) to the outer nuclear layer (ONL). Of the 18 patients who underwent FA, mild peripheral leakage was seen in eight eyes of four patients (22%). Subfoveal choroidal neovascularization (CNV) was seen in three eyes of two patients (6%) that responded well to intravitreal bevacizumab (IVB). Seven mutations of the bestrophin-1 (BEST1) gene were found in this study; however, only two of them (p.Gly34 = and p.Leu319Pro) had been previously reported as the cause of ARB based on ClinVar and other literature studies. Conclusions. ARB can be presented with a wide spectrum of ocular abnormalities that may not be easily diagnosed. Pachychoroid can occur alongside retinal schisis and may be the underlying cause of angle-closure glaucoma in ARB. Our study also expands the pathogenic mutation spectrum of the BEST1 gene associated with ARB.

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Enhanced depth imaging-optical coherence tomography of the choroid in moderate and severe primary angle-closure glaucoma

Acta Ophthalmologica ◽

10.1111/aos.12616 ◽

2014 ◽

Vol 93 (5) ◽

pp. e349-e355 ◽

Cited By ~ 9

Author(s):

Zheng Li ◽

Wei Wang ◽

Minwen Zhou ◽

Wenbin Huang ◽

Shida Chen ◽

...

Keyword(s):

Optical Coherence Tomography ◽

Angle Closure Glaucoma ◽

Enhanced Depth Imaging ◽

Angle Closure ◽

Optical Coherence ◽

Depth Imaging ◽

Primary Angle Closure ◽

Primary Angle Closure Glaucoma ◽

Imaging Optical Coherence Tomography

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Faculty Opinions recommendation of Enhanced depth imaging-optical coherence tomography of the choroid in moderate and severe primary angle-closure glaucoma.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725291900.793502960 ◽

2015 ◽

Author(s):

Julian Garcia-Feijoo ◽

Federico Saenz-Frances

Keyword(s):

Optical Coherence Tomography ◽

Angle Closure Glaucoma ◽

Enhanced Depth Imaging ◽

Angle Closure ◽

Optical Coherence ◽

Depth Imaging ◽

Primary Angle Closure ◽

Primary Angle Closure Glaucoma ◽

Imaging Optical Coherence Tomography

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Faculty Opinions recommendation of Vessel density and structural measurements of optical coherence tomography in primary angle closure and primary angle closure glaucoma.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.727368001.793536598 ◽

2017 ◽

Author(s):

Christopher Leung

Keyword(s):

Optical Coherence Tomography ◽

Angle Closure Glaucoma ◽

Vessel Density ◽

Angle Closure ◽

Optical Coherence ◽

Primary Angle Closure ◽

Primary Angle Closure Glaucoma

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Deep learning algorithms to isolate and quantify the structures of the anterior segment in optical coherence tomography images

British Journal of Ophthalmology ◽

10.1136/bjophthalmol-2019-315723 ◽

2020 ◽

pp. bjophthalmol-2019-315723

Author(s):

Tan Hung Pham ◽

Sripad Krishna Devalla ◽

Aloysius Ang ◽

Zhi-Da Soh ◽

Alexandre H Thiery ◽

...

Keyword(s):

Optical Coherence Tomography ◽

Objective Assessment ◽

Anterior Segment ◽

Angle Closure Glaucoma ◽

Training Data ◽

Angle Closure ◽

Optical Coherence ◽

Segmentation Approach ◽

Reliable Quantification ◽

The Given

Background/AimsAccurate isolation and quantification of intraocular dimensions in the anterior segment (AS) of the eye using optical coherence tomography (OCT) images is important in the diagnosis and treatment of many eye diseases, especially angle-closure glaucoma.MethodIn this study, we developed a deep convolutional neural network (DCNN) for the localisation of the scleral spur; moreover, we introduced an information-rich segmentation approach for this localisation problem. An ensemble of DCNNs for the segmentation of AS structures (iris, corneosclera shell adn anterior chamber) was developed. Based on the results of two previous processes, an algorithm to automatically quantify clinically important measurements were created. 200 images from 58 patients (100 eyes) were used for testing.ResultsWith limited training data, the DCNN was able to detect the scleral spur on unseen anterior segment optical coherence tomography (ASOCT) images as accurately as an experienced ophthalmologist on the given test dataset and simultaneously isolated the AS structures with a Dice coefficient of 95.7%. We then automatically extracted eight clinically relevant ASOCT measurements and proposed an automated quality check process that asserts the reliability of these measurements. When combined with an OCT machine capable of imaging multiple radial sections, the algorithms can provide a more complete objective assessment. The total segmentation and measurement time for a single scan is less than 2 s.ConclusionThis is an essential step towards providing a robust automated framework for reliable quantification of ASOCT scans, for applications in the diagnosis and management of angle-closure glaucoma.

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