scholarly journals Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy

2019 ◽  
Vol 10 (3) ◽  
pp. 374-378 ◽  
Author(s):  
Konstantinos Kopsidas ◽  
Hedayat Javidi ◽  
Simon P. Kelly ◽  
Tariq Aslam ◽  
Graeme Black ◽  
...  

We report a case of bilateral serous retinal detachment in a patient with rod-cone dystrophy caused by mutation of BEST1. This followed creatine monohydrate use as a dietary supplement. A 39-year-old male with rod-cone dystrophy and low hyperopia developed extensive bilateral exudative retinal detachment following creatine monohydrate diet supplementation. Five days after stopping creatine use, the bilateral retinal detachments resolved completely. This may indicate a causative relation of creatine supplementation to development of serous retinal detachment in a susceptible patient with pre-existing retinal dystrophy.

2015 ◽  
Vol 6 (3) ◽  
pp. 361-365 ◽  
Author(s):  
Arminda Neves ◽  
Ana Cardoso ◽  
Mariana Almeida ◽  
Joana Campos ◽  
António Campos ◽  
...  

Purpose: To report a case of a 20-year-old female with decreased visual acuity (VA) in the left eye (LE). Methods: This is a retrospective and descriptive case report based on data from clinical records, patient observation and analysis of diagnostic tests. Results: A 20-year-old female presented with decreased VA in the LE for 3 days. Best-corrected visual acuity (BCVA) was 20/20 in the right eye (RE) and 20/40 in the LE. Pupillary function, intraocular pressure, results of external segment examinations and slit-lamp biomicroscopy were normal, bilaterally. RE fundoscopy was normal, and in the LE it revealed papillitis and posterior pole exudative retinal detachment. Optical coherence tomography (OCT) confirmed the macular serous retinal detachment and showed thickening of the posterior choroid also revealed by orbital ultrasound and magnetic resonance imaging (MRI). Fluorescein angiography showed angiographic features typical of Vogt-Koyanagi-Harada (VKH) disease: disseminated spotted choroidal hyperfluorescence and choroidal multifocal hypofluorescence, multifocal profuse leakage in the retina with pooling, serous retinal detachment and optic disc hyperfluorescence. Serological testing for the diagnosis of infectious pathologies was negative, and the review of systems was normal. The patient received systemic steroids and cyclosporine. LE BCVA improved up to 20/20 at 18 months after the diagnosis, with complete reabsorption of subretinal fluid and normal retinal and choroidal thickness by OCT. Conclusion: Despite the unilateral involvement, the clinical and angiographic features were typical of VKH disease, and ophthalmologists should be aware to recognize this rare clinical variant of the disease.


2019 ◽  
Vol 4 (2) ◽  
pp. 163-166
Author(s):  
James Lin ◽  
Armando Garcia ◽  
Ying Chen ◽  
Sander Dubovy ◽  
Wendy Lee ◽  
...  

Purpose: We describe a unique case of synchysis scintillans in a 23-year-old woman with a history of chronic exudative retinal detachment in the setting of familial exudative vitreoretinopathy. Methods: Fundus and slit-lamp photographs were obtained at presentation, and pathological studies were performed on the enucleated specimen to confirm the diagnosis. Results: Synchysis scintillans is a degenerative condition of cholesterol deposition that affects severely damaged eyes, often as a result of chronic vitreous hemorrhage or retinal detachment. In this case, synchysis scintillans presented as crystals in the anterior chamber in the setting of a chronic retinal detachment. After enucleation, there were noted to be cholesterol slits on pathological correlation, confirming the diagnosis. Conclusions: This case demonstrates the importance of clinical pathological correlation in the diagnosis of synchysis scintillans migrating into the anterior chamber.


2021 ◽  
Vol 49 (3) ◽  
pp. 030006052096437
Author(s):  
Weiming Yan ◽  
Yunpeng Wang ◽  
Xiangrong Zheng ◽  
Xiaohong Chen ◽  
Qian Ye ◽  
...  

This report describes a patient who had acute lymphocytic leukemia with exudative retinal detachment (RD), which mimicked Vogt–Koyanagi–Harada disease (VKH). A 61-year-old woman presented with painless loss of vision in the left eye. Fundus examination revealed RD in her left eye. B-scan ultrasonography confirmed localized RD and choroidal thickening. Fundus fluorescein angiography revealed stippled pinpoint hyperfluorescence in the upper macula. One week later, reduced visual acuity was noted in the right eye. B-scan ultrasonography and optical coherence tomography revealed serous RD in both eyes. A provisional diagnosis of VKH was made. However, subsequent hematologic analysis detected an extremely high leukocyte count. Elevated numbers of leukocytes and tumor cells were found in cerebrospinal fluid. Bone marrow biopsy revealed 77% primary atypical blood cells, 89% of which were immature lymphocytes. The patient was subsequently diagnosed with acute lymphocytic leukemia and transferred to the Department of Hematology. However, the patient and her family refused chemotherapy; she eventually died. Our findings suggest that exudative RD, similar to VKH, could be a sign of leukemia. Pinpoint hyperfluorescence leakage is important for differential diagnosis, particularly with respect to VKH.


2019 ◽  
Vol 10 (3) ◽  
pp. 339-343
Author(s):  
Izabella Karska-Basta ◽  
Agnieszka Kubicka-Trząska ◽  
Michał Chrząszcz ◽  
Weronika Pociej-Marciak ◽  
Bożena Romanowska-Dixon

We aimed to present a unique case of a child with an optic disc granuloma with exudative retinal detachment as a manifestation of ocular toxocariasis. The response to systemic therapy was assessed using deep range imaging optical coherence tomography. This imaging technique was the most accurate for identification of retinal, macular and vitreous changes associated with this intraocular pathology.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rijo Hayashi ◽  
Shimmin Hayashi ◽  
Shigeki Machida

Abstract Background Reversible cerebral vasoconstriction syndrome is characterized by severe headache with reversible segmental constriction of the cerebral arteries. We present details on a patient with reversible cerebral vasoconstriction syndrome who initially visited an ophthalmologist because of visual symptoms. Case presentation A 34-year-old Japanese woman complained of sustained headache and insomnia starting 2 days after her first childbirth. In addition to the severe headache, a visual field defect was also observed 10 days later. Best corrected visual acuity at the initial visit was 20/20 and 20/25 for the right and left eye, respectively. Exudative retinal detachment was noted surrounding both optic heads. Visual field testing revealed left homonymous hemianopsia, while magnetic resonance imaging demonstrated the presence of edema and infarction of the bilateral basal nuclei and right occipital lobe. The homonymous hemianopsia and exudative retinal detachment recovered immediately after treatment with a free-radical scavenger and anticoagulant. There has been no recurrence of symptoms during the 4 years of follow-up. Conclusions We report a case of reversible cerebral vasoconstriction syndrome with ophthalmological symptoms that were reversible, including serous retinal detachment and homonymous hemianopsia.


2021 ◽  
Vol 22 (12) ◽  
pp. 6410
Author(s):  
Vasily Smirnov ◽  
Olivier Grunewald ◽  
Jean Muller ◽  
Christina Zeitz ◽  
Carolin D. Obermaier ◽  
...  

Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal dystrophy (EOSRD). Genetic analysis was performed by targeted next generation sequencing of gene panels and assessment of copy number variants (CNV). We identified eight variants, of which six were novel, including two large multiexon deletions in patients with COD or CORD, while the EOSRD patient harboured the novel homozygous p.(Trp640*) variant and three distinct USH2A variants, which might explain the observed rod involvement. Our study highlights the role of TTLL5 in COD/CORD and the importance of large deletions. These findings suggest that COD or CORD patients lacking variants in known genes may harbour CNVs to be discovered in TTLL5, previously undetected by classical sequencing methods. In addition, variable phenotypes in TTLL5-associated patients might be due to the presence of additional gene defects.


2021 ◽  
pp. 476-480
Author(s):  
Tung Thanh Hoang ◽  
Tuan Anh Hoang ◽  
Peter McCluskey ◽  
John Grigg

A 66-years-old Vietnamese healthy female patient presented with prolonged severe right ocular pain and complete vision loss in that eye. Anterior segment assessment including gonioscopy identified angle-closure configuration. A suspected ciliary body melanoma was seen through the pupil. Posterior segment examination revealed a large tumor mass and 360° retinal detachment (kissing configuration). An ultrasound examination was consistent with a uveal tumor. The painful, blind right eye with a tumor mass was enucleated. Histopathology confirmed a type A uveal spindle cell melanoma associated with total serous retinal detachment without evidence of tumor necrosis, epithelioid cells, scleral, or optic nerve infiltration. There was no evidence of metastasis after 1-year of follow-up. It is critically important to differentiate primary and secondary angle closure, especially in cases with life-threatening ocular malignancy as uveal melanoma.


2019 ◽  
Vol Volume 12 ◽  
pp. 355-361 ◽  
Author(s):  
Tomoko Miyakubo ◽  
Ryo Mukai ◽  
Kosuke Nakamura ◽  
Hidetaka Matsumoto ◽  
Hideo Akiyama

2018 ◽  
Vol 53 (2) ◽  
pp. e74-e77 ◽  
Author(s):  
Parveen Sen ◽  
Hatim Yusufali ◽  
Vikas Khetan ◽  
Chetan Rao ◽  
Aniruddha Banerjee

Sign in / Sign up

Export Citation Format

Share Document