Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report

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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Autosomal recessive bestrophinopathy associated with angle-closure glaucoma

Documenta Ophthalmologica ◽

10.1007/s10633-014-9444-z ◽

2014 ◽

Vol 129 (1) ◽

pp. 57-63 ◽

Cited By ~ 18

Author(s):

C. Crowley ◽

R. Paterson ◽

T. Lamey ◽

T. McLaren ◽

J. De Roach ◽

...

Keyword(s):

Autosomal Recessive ◽

Angle Closure Glaucoma ◽

Angle Closure ◽

Autosomal Recessive Bestrophinopathy

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Pathogenic potential of Parabacteroides distasonis revealed in a splenic abscess case: a truth unfolded

BMJ Case Reports ◽

10.1136/bcr-2020-236701 ◽

2020 ◽

Vol 13 (12) ◽

pp. e236701

Author(s):

Anitha Gunalan ◽

Rakhi Biswas ◽

Balamurugan Sridharan ◽

Thirthar Palanivelu Elamurugan

Keyword(s):

Abdominal Pain ◽

Case Report ◽

Antimicrobial Therapy ◽

Splenic Abscess ◽

Rare Entity ◽

Normal Flora ◽

Pathogenic Role ◽

Pathogenic Potential ◽

Open Splenectomy

Splenic abscess is a rare entity, however if unrecognised or left untreated, it is invariably fatal. We herein report a case of splenic abscess in a 40-year-old man presenting with fever, left-sided abdominal pain, altered sensorium and vomiting. On clinical examination, hepatosplenomegaly was noted and the ultrasound of the abdomen showed multiple hypoechoic regions in the upper pole of spleen, and the diagnosis of splenic abscess was made. The patient received antimicrobial therapy and underwent an open splenectomy with full recovery. Pus aspirated from the splenic abscess grew an unusual organism named Parabacteroides distasonis. In the literature, there are only a few recorded cases of P. distasonis causing splenic abscess. Through this case report, we would like to emphasise the pathogenic role of P. distasonis in causing clinical disease, as this organism is typically known to constitute a part of the normal flora.

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Atypical Presentation of Acute Angle-Closure Glaucoma in Maroteaux-Lamy Mucopolysaccharidosis with Patent Prophylactic Laser Peripheral Iridotomy: A Case Report

The Permanente Journal ◽

10.7812/tpp/17-012 ◽

2017 ◽

Author(s):

Malini Veerappan

Keyword(s):

Case Report ◽

Acute Angle ◽

Angle Closure Glaucoma ◽

Angle Closure ◽

Atypical Presentation ◽

Laser Peripheral Iridotomy ◽

Acute Angle Closure ◽

Peripheral Iridotomy ◽

Acute Angle Closure Glaucoma

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Managing Primary Angle Closure Glaucoma – The Role of Lens Extraction in this Era

The Open Ophthalmology Journal ◽

10.2174/1874364101610010086 ◽

2016 ◽

Vol 10 (1) ◽

pp. 86-93 ◽

Cited By ~ 5

Author(s):

Nafees Baig ◽

Ka-Wai Kam ◽

Clement C.Y. Tham

Keyword(s):

Gold Standard ◽

Open Angle Glaucoma ◽

Angle Closure Glaucoma ◽

Angle Closure ◽

Predisposing Factor ◽

Lens Extraction ◽

Primary Angle Closure ◽

Primary Angle Closure Glaucoma ◽

Anterior Position

Trabeculectomy has been the gold standard in reducing intraocular pressure (IOP) in glaucoma patients, no matter it is angle closure or open angle glaucoma. However in primary angle closure glaucoma, no matter the lens is cataractous or not, it is likely to be pathological, this thicker than usual lens, with or without a more anterior position, is often regarded as a strong contributing factor to angle closure. Lens extraction, no matter it is cataractous or clear, can theoretically eliminate this anatomical predisposing factor of angle closure, and thus IOP can be reduced. Based on recent results of a number of clinical trials, lens extraction alone or in combination with other IOP-lowering surgeries, may therefore play a more important role in the treating primary angle closure glaucoma. In cases when greater IOP-lowering effect is needed or if drug dependency has to be minimized, combined procedures, such as phacotrabeculectomy, can be considered, but the surgical risk can be higher than lens extraction alone.

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