scholarly journals Unilateral Familial Exudative Vitreoretinopathy: Clinical Profile and Pathology

2021 ◽  
pp. 386-391
Author(s):  
Nina S. Boal ◽  
Alberto G. Distefano ◽  
Stephen P. Christiansen ◽  
Nora V. Laver
Keyword(s):  
Retinal Detachment ◽  
Clinical Profile ◽  
Clinical Spectrum ◽  
Presumptive Diagnosis ◽  
Final Pathology ◽  
Familial Exudative Vitreoretinopathy ◽  
Pathologic Findings ◽  
Retinal Dysplasia

We report a case of a newborn with unilateral retinal detachment that could not be repaired. At examination under anesthesia, the retina was markedly abnormal and a presumptive diagnosis of retinal dysplasia was made. Several years later, the eye was enucleated because it was blind and painful. Final pathology was consistent with familial exudative vitreoretinopathy (FEVR). The literature describing unilateral retinal dysplasia is sparse. This case adds to the clinical spectrum of pathologic findings in FEVR.

scholarly journals Fibrous osteodystrophy in a dromedary camel

2020 ◽  
Vol 33 (1) ◽  
pp. 144-148
Author(s):  
Elizabeth S. Hines ◽  
Valentina B. Stevenson ◽  
Molly E. Patton ◽  
Hannah R. Leventhal ◽  
Noah Diaz-Portalatin ◽  
...  
Keyword(s):  
Poor Prognosis ◽  
Fibrous Tissue ◽  
Serum Biochemistry ◽  
Parathyroid Glands ◽  
Dromedary Camel ◽  
Presumptive Diagnosis ◽  
The Poor ◽  
Pathologic Findings ◽  
Feed Analysis ◽  
Maxilla And Mandible

A 6-y-old female dromedary camel ( Camelus dromedarius L.) was presented for assessment of firm, bilateral swellings rostral and ventral to the eyes. Serum biochemistry revealed hyperglycemia (28.5 mmol/L), hypocalcemia (1.27 mmol/L), hyperphosphatemia (3.39 mmol/L), hypoproteinemia (total protein 50 g/L), and hypoalbuminemia (20 g/L). Based on the poor prognosis associated with the presumptive diagnosis of fibrous osteodystrophy, the camel was euthanized. Gross postmortem findings revealed expanded fibrous tissue replacing the maxilla and mandible, and bilaterally prominent parathyroid glands. Histology of the maxilla revealed proliferative loose fibrous tissue with widely scattered, regularly spaced, small spicules of mineralized bone. The parathyroid glands were prominent bilaterally; the internal and external parathyroid glands were composed of plump cells with abundant pale basophilic cytoplasm and open nuclei. The pathologic findings were consistent with the antemortem diagnosis of fibrous osteodystrophy. The camel’s diet, which was not specifically balanced for a camel, included grass hay, sweet feed, and alfalfa pellets. The camel’s caregivers reported feeding her treats of cookies. A feed analysis was not available. The biochemistry abnormalities and clinical and postmortem findings, along with a diet that was not balanced for a camel, are consistent with a diagnosis of nutritional secondary hyperparathyroidism.

Familial Exudative Vitreoretinopathy (FEVR); Pathophysiology, Findings, Diagnosis, and Treatment

2021 ◽  
pp. 229-235
Keyword(s):  
Retinal Detachment ◽  
Vitreoretinal Surgery ◽  
Current Treatment ◽  
Treatment Modalities ◽  
Peripheral Retina ◽  
Wide Field ◽  
Inherited Disease ◽  
Secondary Complications ◽  
Familial Exudative Vitreoretinopathy ◽  
Retinal Angiogenesis

Familial exudative vitreoretinopathy (FEVR) is an inherited disease occurring due to defective retinal angiogenesis. FEVR patients have an avascular peripheral retina which, depending on the degree of ischemia, causes the secondary complications of the disease (retinal neovascularization, exudation, hemorrhage, and retinal detachment) Mutations in the NDP, FZD4, LRP5, TSPAN12 and ZNF08 genes have been shown to contribute to FEVR. Cases can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, or can affect individuals with no family history. Examination with wide-field fluorescein angiography is essential and can identify the disease in its earlier stages, enabling the timely treatment, in addition to helping identify asymptomatic family members. The current treatment modalities involve laser photocoagulation of the avascular peripheral retina for neovascular complications and vitreoretinal surgery for retinal detachment. Studies are ongoing to better understand the pathogenesis of FEVR and to improve treatment

Large exudative retinal detachment with choroidal granuloma unmasking disseminated tuberculosis: imaging and management

2021 ◽  
Vol 14 (3) ◽  
pp. e241179
Author(s):  
Anusha Sachan ◽  
Rohan Chawla ◽  
Suman Lata
Keyword(s):  
Retinal Detachment ◽  
Exudative Retinal Detachment ◽  
Presumptive Diagnosis ◽  
Ocular Tuberculosis ◽  
Disseminated Tuberculosis ◽  
Antitubercular Treatment ◽  
Choroidal Granuloma ◽  
Bullous Retinal Detachment ◽  
Systemic Examination ◽  
The Right

A 26-year-old man presented with diminution of vision in the left eye associated with malaise and occasional mild fever. On fundus examination, the patient had left eye inferior bullous retinal detachment with choroidal granuloma. Systemic examination revealed a non-tender swelling on the right wrist. Correlating ophthalmic and systemic findings, a presumptive diagnosis of left eye exudative retinal detachment with choroidal tuberculoma and tubercular osteomyelitis of the right wrist was made. On imaging, asymptomatic multiorgan involvement was observed in the chest, abdomen and spine. The patient was started on antitubercular treatment along with peribulbar steroid. A reduction in size of exudative retinal detachment and tuberculoma with improvement in vision was noted on serial follow-ups. This case highlights the importance of thorough systemic evaluation in cases of ocular tuberculosis as the eye may not be the primary site but the early presenting feature of disseminated tuberculosis. Local posterior subtenon can be used for faster resolution of exudative retinal detachment and intraocular inflammation.

Pathological Findings of Synchysis Scintillans Secondary to Familial Exudative Vitreoretinopathy With Chronic Exudative Retinal Detachment

2019 ◽  
Vol 4 (2) ◽  
pp. 163-166
Author(s):  
James Lin ◽  
Armando Garcia ◽  
Ying Chen ◽  
Sander Dubovy ◽  
Wendy Lee ◽  
...  
Keyword(s):  
Retinal Detachment ◽  
Anterior Chamber ◽  
Vitreous Hemorrhage ◽  
Exudative Retinal Detachment ◽  
Slit Lamp ◽  
Pathological Findings ◽  
Unique Case ◽  
Familial Exudative Vitreoretinopathy ◽  
Pathological Correlation ◽  
History Of

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.

Fluorescein Angiography of a Closing Funnel Retinal Detachment in Familial Exudative Vitreoretinopathy

2013 ◽  
Vol 131 (8) ◽  
pp. 1056
Author(s):  
Melinda C. Fry ◽  
Aleksandra V. Rachitskaya ◽  
Ditte J. Hess ◽  
Elias Mavrofrides ◽  
Audina M. Berrocal
Keyword(s):  
Retinal Detachment ◽  
Fluorescein Angiography ◽  
Familial Exudative Vitreoretinopathy
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