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Dive into the research topics where Deborah M. Costakos is active.

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Featured researches published by Deborah M. Costakos.


Investigative Ophthalmology & Visual Science | 2014

Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism

Melissa A. Wilk; John T. McAllister; Robert F. Cooper; Teresa N. Patitucci; Phyllis Summerfelt; Jennifer L. Anderson; Kimberly E. Stepien; Deborah M. Costakos; Thomas B. Connor; William J. Wirostko; Pei Wen Chiang; Alfredo Dubra; Christine A. Curcio; Murray H. Brilliant; C. Gail Summers; Joseph Carroll

PURPOSE Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism. METHODS We recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 subjects, and known albinism genes were analyzed for mutations. Relative inner and outer segment (IS and OS) lengthening (fovea-to-perifovea ratio) was determined from manually segmented spectral domain-optical coherence tomography (SD-OCT) B-scans. Foveal pit morphology was quantified for eight subjects from macular SD-OCT volumes. Ten subjects underwent imaging with adaptive optics scanning light ophthalmoscopy (AOSLO), and cone density was measured. RESULTS We found mutations in 22 of 25 subjects, including five novel mutations. All subjects lacked complete excavation of inner retinal layers at the fovea, though four subjects had foveal pits with normal diameter and/or volume. Peak cone density and OS lengthening were variable and overlapped with that observed in normal controls. A fifth hyper-reflective band was observed in the outer retina on SD-OCT in the majority of the subjects with albinism. CONCLUSIONS Foveal cone specialization and pit morphology vary greatly in albinism. Normal cone packing was observed in the absence of a foveal pit, suggesting a pit is not required for packing to occur. The degree to which retinal anatomy correlates with genotype or visual function remains unclear, and future examination of larger patient groups will provide important insight on this issue.


Journal of Aapos | 2012

Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia

Peter A. Karth; Ravi S. J. Singh; Judy E. Kim; Deborah M. Costakos

A previously healthy 7-week-old boy developed bilateral central retinal artery occlusions in the presence of hyperhomocysteinemia and elevated serum methylmalonic acid and was found to have a transcobalamin receptor mutation. Retinal arterial occlusion is uncommon in young patients and typically prompts a systemic workup. In cases of atypical retinal arterial occlusion, hyperhomocysteinemia should be investigated.


BMC Medical Genetics | 2016

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

Hannah Happ; Eric Weh; Deborah M. Costakos; Linda M. Reis; Elena V. Semina

BackgroundCongenital cataracts affect 3–6 per 10,000 live births and represent one of the leading causes of blindness in children. Congenital cataracts have a strong genetic component with high heterogeneity and variability.Case presentationAnalysis of whole exome sequencing data in a patient affected with congenital cataracts identified a pathogenic deletion which was further defined by other techniques. A ~98-kb homozygous deletion of 6p24.3 involving the first three exons (two non-coding and one coding) of GCNT2 isoform A, the first exon (coding) of GCNT2 isoform B, and part of the intergenic region between GCNT2 and TFAP2A was identified in the patient and her brother while both parents were found to be heterozygous carriers of the deletion. The exact breakpoints were identified and revealed the presence of Alu elements at both sides of the deletion, thus indicating Alu-mediated non-homologous end-joining as the most plausible mechanism for this rearrangement. Recessive mutations in GCNT2 are known to cause an adult i blood group phenotype with congenital cataracts in some cases. The GCNT2 gene has three differentially expressed transcripts, with GCNT2B being the only isoform associated with lens function and GCNT2C being the only isoform expressed in red blood cells based on earlier studies; previously reported mutations/deletions have either affected all three isoforms (causing blood group and cataract phenotype) or the C isoform only (causing blood group phenotype only). Dominant mutations in TFAP2A are associated with syndromic anophthalmia/microphthalmia and other ocular phenotypes as part of Branchio-Ocular-Facial-Syndrome (BOFS). While the patients do not fit a diagnosis of BOFS, one sibling demonstrates mild overlap with the phenotypic spectrum, and therefore an effect of this deletion on the function of TFAP2A cannot be ruled out.ConclusionsTo the best of our knowledge, this is the first case reported in which disruption of the GCNT2 gene does not involve the C isoform. The congenital cataracts phenotype in the affected patients is consistent with the previously defined isoform-specific roles of this gene. The GCNT2-TFAP2A region may be prone to rearrangements through Alu-mediated non-homologous end-joining.


Retinal Cases & Brief Reports | 2016

ATTENUATION OF THE GANGLION CELL LAYER IN A PREMATURE INFANT REVEALED WITH HANDHELD SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY

Mara R Goldberg; Fouad R. Zakka; Joseph Carroll; Deborah M. Costakos

A premature infant was imaged using a handheld spectral domain optical coherence tomography system, and abnormal retinal findings are described.


Ocular Immunology and Inflammation | 2016

Bilateral Acute Retinal Necrosis with Concurrent Retinopathy of Prematurity in Two Neonates

Kara C. LaMattina; William J. Wirostko; Deborah M. Costakos

Acute retinal necrosis (ARN) is a syndrome characterized by one or more areas of necrotizing retinitis with adjacent occlusive retinal vasculitis involving both arteries and veins. Additional signs often include vitritis and optic neuropathy. 1 Since acute retinal necrosis is predominantly seen in the adult population, literature on neonatal cases is exceedingly rare. We present two cases of premature neonates who developed ARN with concurrent retinopathy of prematurity (ROP.) A 985-g male was born at 27 weeks gestational age via vaginal delivery secondary to preterm labor to a mother with an unremarkable past medical history with no evidence of herpetic infection. The neonate was in respiratory distress at birth with later radiographic support of respiratory distress syndrome. He was intubated and given surfactant at birth; he was extubated to continuous positive airway pressure (CPAP) at approximately 9 hours of life. The infant was evaluated in the neonatal intensive care unit (NICU) for ROP at 32 weeks gestational age. At that time, he was found to have peripheral cataracts and chorioretinitis bilaterally. He did not have ROP on initial evaluation. A TORCH workup (toxoplasmosis, ‘‘other’’ infections, rubella, cytomegalovirus, and herpes simplex virus) was initiated. Polymerase chain reaction (PCR) of his cerebral spinal fluid (CSF) was positive for herpes simplex virus (HSV) type 2, and negative for cytomegalovirus (CMV), toxoplasmosis, syphilis, human immunodeficiency virus (HIV), varicella zoster virus (VZV), and rubella. Despite treatment with intravenous acyclovir (20 mg/kg daily), chorioretinitis progressed to bilateral acute retinal necrosis and he developed stage 2 zone II ROP. No treatment for ROP was required, but laser demarcation of the necrotic retina was performed. Weekly follow-up exams were done while the patient was in the NICU until after the laser demarcation was done and retinal findings were stable. Intravenous acyclovir was increased to 20 mg/kg TID. After 3 weeks at this higher dosage, the ARN was stable and a repeat CSF PCR was negative for HSV type 2 and treatment was changed to oral acyclovir (20 mg/kg BID) on which he remains


Ophthalmic Surgery and Lasers | 2018

Findings in Persistent Retinopathy of Prematurity

Clinton Warren; Jonathon Young; Mara R Goldberg; Thomas B. Connor; Iris S. Kassem; Deborah M. Costakos

BACKGROUND AND OBJECTIVE: To determine whether retinopathy of prematurity (ROP) that persists beyond a postmenstrual age (PMA) of 45 weeks has abnormalities that can be documented by fundus photography or fluorescein angiography (FA). PATIENTS AND METHODS: Fundus photographs and FAs were reviewed for all premature infants who underwent FA for persistent ROP after 45 weeks PMA. RESULTS: Of the 487 infants who were screened for ROP, 16 (3.3%) demonstrated ROP beyond 45 weeks. Seven (43.8%) infants received prior treatment with intravitreal bevacizumab (IVB) for Type 1 ROP. FAs were obtained in eight cases; four subjects were previously treated with IVB. Leakage at the vascular-avascular border was demonstrated in seven subjects (87.5%). Shunt vessels, posterior retinal nonperfusion, and absence of the foveal avascular zone was limited to the IVB group. CONCLUSIONS: There are persistent vascular abnormalities among infants with ROP beyond 45 weeks. Findings that may be missed by RetCam fundus photographs were highlighted with FA.


Archives of Ophthalmology | 2012

Evaluation of Normal Human Foveal Development Using Optical Coherence Tomography and Histologic Examination

Deborah M. Costakos; C. Devika Subramaniam; Pooja Godara; William J. Wirostko; Joseph Carroll; Jan M. Provis


Ophthalmology | 2013

Subclinical macular findings in infants screened for retinopathy of prematurity with spectral-domain optical coherence tomography.

C. Devika Subramaniam; Pooja Godara; Joseph Carroll; Deborah M. Costakos


Human Genetics | 2013

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

Linda M. Reis; Rebecca C. Tyler; Sanaa Muheisen; Victor Raggio; Leonardo Salviati; Dennis P. Han; Deborah M. Costakos; Hagith Yonath; Sarah Hall; Patricia Power; Elena V. Semina


Archives of Ophthalmology | 2005

Chronic myelogenous leukemia manifested as bilateral proliferative retinopathy.

Naresh Mandava; Deborah M. Costakos; Heather M. Bartlett

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Joseph Carroll

Medical College of Wisconsin

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Mara R Goldberg

Medical College of Wisconsin

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Ryan N. Vogel

Medical College of Wisconsin

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William J. Wirostko

Medical College of Wisconsin

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Elena V. Semina

Medical College of Wisconsin

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Linda M. Reis

Medical College of Wisconsin

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Pooja Godara

Medical College of Wisconsin

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Thomas B. Connor

Medical College of Wisconsin

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