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.
Purpose: To report a case of refractory ocular hypotony due to chronic Behcet’s disease with good response to high-dose topical latanoprost. Case Report: We present a 26-year-old man with a known history of Behcet’s disease who developed decreasing vision and severe ocular hypotony that was refractory to multiple treatment modalities including subtenon triamcinolone acetonide, ibopamine, pars plana vitrectomy, and silicone oil injection. We decided to try high-dose topical latanoprost for the management of ocular hypotony based on recent reports. After six months, intraocular pressure (IOP) increased by 5 mm Hg, became stable at 7 mm Hg, and remained unchanged at month 24. Conclusion: High-dose topical latanoprost could lead to significant increase in IOP in uveitis-induced refractory ocular hypotony.
Purpose. To assess the safety of biosimilar intravitreal aflibercept (CinnaGen Co., Iran) compared to the reference product (Eylea®; Bayer Schweiz AG, Zurich, Switzerland) in rabbit eyes through functional and histologic studies. Methods. Forty New Zealand albino rabbits were recruited to the study and were divided into four groups to be sacrificed at 48 hours, one, two, and four weeks after injections. In each group, five rabbits received 0.05 mL (2 mg) biosimilar aflibercept in the right eye and 0.05 mL saline in the left eye as the control, and in a similar manner, the remaining five rabbits received the reference drug in the right eye and saline in the left eye. All the rabbits underwent comprehensive ophthalmic examination and electroretinography (ERG) tests at baseline and also just before enucleation at the specific predefined time points. The enucleated eyes were prepared for retinal toxicity histological examination. Results. No retinal toxicity was observed based on histologic and ERG findings in all groups. Choroidal congestion was revealed after 1 week in an eye that was injected with biosimilar aflibercept, although the similar finding was detected in the contralateral eye which received saline. Also, one subject which received the reference drug showed chronic vitritis and lymphoplasmocytic reaction of the optic disc at week 4. The remaining subjects showed no histologic changes. Conclusion. The 2 mg intravitreal injection of biosimilar aflibercept (CinnaGen Co., Iran) was found to be nontoxic in rabbit eyes in the short-term period. Further studies are required to warrant the efficacy and safety profile of the drug in human subjects.
11 December 2020 in Case Reports in Ophthalmological Medicine
Background. To report an atypical case of a transient choroidal mass lesion with spontaneous resolution. Case Presentation. A solitary choroidal mass with an overlying neurosensory retinal detachment was seen in an otherwise healthy 31-year-old female. General physical examinations and serum chemistry were unremarkable. The patient had spontaneous resolution two weeks after initial examination without treatment. Conclusions. Inflammatory choroidal masses may be self-limited, but complete diagnostic measures must always be performed in these patients to distinguish between important causes such as tuberculosis, sarcoidosis, and tumors.