Person: Cestari, Dean
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Cestari
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Dean
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Cestari, Dean
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Publication A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome(S. Karger AG, 2015) Chiu, Cynthia S.; Mantopoulos, Dimosthenis; Lessell, Simmons; Cestari, DeanBardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration. Here, we report a novel case that suggests a rod-sparing variant of Bardet-Biedl syndrome.Publication Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status(Molecular Vision, 2017) Gaier, Eric; Boudreault, Katherine; Nakata, Isao; Janessian, Maria; Skidd, Philip; DelBono, Elizabeth; Allen, Keri F.; Pasquale, Louis; Place, Emily; Cestari, Dean; Stacy, Rebecca C.; Rizzo, Joseph; Wiggs, JaneyPurpose Inherited optic neuropathy is genetically heterogeneous, and genetic testing has an important role in risk assessment and counseling. The purpose of this study is to determine the prevalence and spectrum of mutations in a group of patients referred for genetic testing to a tertiary center in the United States. In addition, we compared the clinical features of patients with and without mutations in OPA1, the gene most commonly involved in dominantly inherited optic atrophy. Methods: Clinical data and genetic testing results were reviewed for 74 unrelated, consecutive patients referred with a history of insidious, relatively symmetric, bilateral visual loss secondary to an optic neuropathy. Patients were evaluated for disease-causing variants in OPA1, OPA3, WFS1, and the entire mitochondrial genome with DNA sequencing and copy number variation (CNV) testing. Results: Pathogenic DNA variants were found in 25 cases, with the majority (24 patients) located in OPA1. Demographics, clinical history, and clinical features for the group of patients with mutations in OPA1 were compared to those without disease-causing variants. Compared to the patients without mutations, cases with mutations in OPA1 were more likely to have a family history of optic nerve disease (p = 0.027); however, 30.4% of patients without a family history of disease also had mutations in OPA1. OPA1 mutation carriers had less severe mean deviation and pattern standard deviation on automated visual field testing than patients with optic atrophy without mutations in OPA1 (p<0.005). Other demographic and ocular features were not statistically significantly different between the two groups, including the fraction of patients with central scotomas (42.9% of OPA1 mutation positive and 66.0% of OPA1 mutation negative). Conclusions: Genetic testing identified disease-causing mutations in 34% of referred cases, with the majority of these in OPA1. Patients with mutations in OPA1 were more likely to have a family history of disease; however, 30.4% of patients without a family history were also found to have an OPA1 mutation. This observation, as well as similar frequencies of central scotomas in the groups with and without mutations in OPA1, underscores the need for genetic testing to establish an OPA1 genetic diagnosis.Publication Radiation optic neuropathy and retinopathy with low dose (20 Gy) radiation treatment(Elsevier, 2016) Peeler, Crandall E.; Cestari, DeanPurpose To report a case of optic neuropathy and retinopathy from a dose of radiation traditionally thought to be safe to the visual system and discuss strategies for preventing vision loss when using radiation to treat intraocular tumors. Observations A 44-year-old woman presented with new, painless vision loss in the left eye eighteen months after receiving proton beam radiotherapy (20 Gy dose delivered in two 10 Gy fractions) for a uveal metastasis of lung cancer. The dilated funduscopic examination revealed optic disc swelling and retinal hemorrhages and an MRI of the brain and orbits demonstrated enhancement of the left optic nerve head, findings consistent with radiation optic neuropathy (RON) and retinopathy. Risk factors for developing RON included coincident use of oral chemotherapy and relatively large fractionated doses of radiation. Conclusions and importance Though cumulative radiation doses to the anterior visual pathway of less than 50 Gy are traditionally felt to be safe, it is important to consider not just the total exposure but also the size of individual fractions. The single-dose threshold for RON in proton beam treatment has yet to be defined. Our case suggests that fractions of less than 10 Gy should be delivered to minimize the risk of optic nerve injury.Publication Decreased Vision and Junctional Scotoma from Pituicytoma(S. Karger AG, 2012) Huynh, Nancy; Stemmer-Rachamimov, Anat; Swearingen, Brooke; Cestari, DeanPituicytomas are rare neoplasms of the sellar region. We report a case of vision loss and a junctional scotoma in a 43-year-old woman caused by compression of the optic chiasm by a pituitary tumor. The morphological and immunohistochemical characteristics of the tumor were consistent with the diagnosis of pituicytoma. The tumor was debulked surgically, and the patient's vision improved.Publication Isolated presumed optic nerve gumma, a rare presentation of neurosyphilis(Elsevier, 2017) Rasool, Nailyn; Stefater, James; Eliott, Dean; Cestari, DeanPurpose The incidence of syphilitic infections continues to rise and represents a major public health concern, particularly in patients co-infected with human immunodeficiency virus (HIV). The infection has a multitude of clinical presentations and is often referred to as the ‘great imitator.’ We present a rare case of an isolated presumed syphilitic optic nerve gumma and characterize it using newer imaging modalities. Observations A 36-year-old HIV-positive man, compliant with treatment, presented with a five day history of decreased vision in the left eye. On examination his visual acuity was 20/30 with mild dyschromatopsia and an inferior altitudinal field defect in the left eye. Funduscopy demonstrated small cup to disc ratios bilaterally and a swollen and hyperemic left optic disc. Following five months of stable vision, the patient's vision in the left eye declined to 20/60, associated with diffuse visual field loss and continued swelling of the left optic disc. Subsequent magnetic resonance imaging with contrast demonstrated enhancement of the left optic nerve, and his serologies were positive for syphilis. Fluorescein angiography and optical coherence tomography were used to better characterize the lesion being most consistent with a syphilitic optic nerve gumma. Conclusions and importance Gummas of the central nervous system are a rare presentation of neurosyphilis and the last reported gumma of the optic nerve was in 1990. Such lesions have not been characterized using newer imaging modalities including optical coherence tomography and fluorescein angiography, both of which may assist in the diagnosis of this rare entity. With the increased prevalence of syphilis and remarkable response to therapy, syphilitic gummas should be considered in at-risk patients presenting with an optic neuropathy.