Research Topics
| E T TsilouSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosisEkaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, Division of Biometry and Epidemiology, National Eye Institute, National Institutes of Health, 10 Center Drive, Bldg 10, Rm 10N226, Bethesda, MD 20892, U S A
Cornea 21:173-6. 2002..With our experience with 172 patients followed up at the National Institutes of Health between 1976 and 2000, the prevalence of anterior segment complications in nephropathic cystinosis was determined...
Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapyEkaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Ophthalmology 113:1002-9. 2006....
Eyelid myxoma in Carney complex without PRKAR1A allelic lossEkaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Bldg 10 Room 10N226, Bethesda, MD 20892, USA
Am J Med Genet A 130:395-7. 2004..578delTG. Immunohistochemical studies confirmed the diagnosis of myxoma. Loss of heterozygosity was not present, suggesting that haploinsufficiency alone was responsible for tumorigenesis of this eyelid lesion...
Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1Ekaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Ophthalmology 111:1599-603. 2004..To compare clinically 2 different subtypes of Hermansky-Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3)...
Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophyEkaterini Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Building 10, Room 10N226, Bethesda, MD 20892, USA
J Cataract Refract Surg 30:1593-4. 2004..One IOL was initially repositioned by nonsurgical manipulations, while the other required surgical repositioning. Eventually, IOL exchange was performed successfully in both eyes...
A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosisE T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Br J Ophthalmol 87:28-31. 2003..Aim: To evaluate the safety and efficacy of a new topical cysteamine formulation, stable at room temperature, for the treatment of corneal cystine crystals in cystinosis...
Retinal visualization in an eye with corneal crystals using indocyanine green videoangiographyEkaterini Tsilou
Ophthalmic Genetics and Visual Function Branch, National Institutes of Health, Bethesda, MD 20892, USA
Am J Ophthalmol 134:123-5. 2002..To report a patient in whom clear imaging of the retina, impossible with conventional methods, was obtained using indocyanine green (ICG) videoangiography...
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenitaEkaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Ophthalmology 117:615-22. 2010..All 4 syndromes have been associated with various physical abnormalities. As part of a genotype/phenotype/cancer susceptibility study, we determined the prevalence of ophthalmic manifestations in these 4 syndromes...
Eye movement abnormalities in hermansky-pudlak syndromeLibe Gradstein
Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
J AAPOS 9:369-78. 2005..Although it is known that patients with HPS exhibit nystagmus, the nature of these abnormal eye movements has not been studied...
Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?Ekaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Acta Ophthalmol Scand 80:196-201. 2002..Usher syndrome types I and II are clinical syndromes with substantial genetic and clinical heterogeneity. We undertook the current study in order to identify ocular symptoms and signs that could differentiate between the two types...
Neurofibromatosis type 2Ashok R Asthagiri
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1414, USA
Lancet 373:1974-86. 2009..We review the molecular pathogenesis, genetics, clinical findings, and management strategies for neurofibromatosis type 2...
Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adultMin Zhou
National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
Arch Ophthalmol 124:1048-51. 2006
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutationBenjamin U Nwosu
Pediatric Endocrinology Inter Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
Ophthalmic Genet 26:135-8. 2005..We speculate that the course of his disease and, perhaps, its co-existence with OI could be exacerbated by his collagen type-I defect, although no causality can be established by this report of a single case...
