The stated clinical duties of the ophthalmic genetics fellow are: 1) Assisting in the work-up of ophthalmic genetics patients, including taking of pertinent medical and family history and ophthalmic examination. She is expected to work at least one day a week with each of the three clinical attendings in the OGVFB (Dr. Ekaterini Tsilou, Dr. Paul Sieving, Dr. Cathy Cukras, Dr. Wadih Zein, and Dr. Brian Brooks). At least one day a week should be reserved for academic and administrative tasks. 2) Obtain a working knowledge of clinical and molecular genetics. This will be accomplished by formal coursework in FAES (the GENES 500 series and other supplemental course work), hands-on training in the clinic with physicians and genetic counselors, and in the molecular diagnostic laboratory. It is expected that at the end of the training, the fellow will be able to collect a three generation pedigree, understand the basics of a clinical genetics evaluation, and have a working knowledge of molecular diagnostics. 3) Become proficient in the examination and treatment of opthalmic genetics patients. This will include the performing of electrodiagnostics (ERGs, multifocal ERGs, VEPs) and psychophysical testing (Goldmann perimetry and dark adaptation). 4) Perform a clinical or basic science research project of his/her choosing, with the approval of the fellowship director. 5) Present regularly at Friday morning and/or Wednesday afternoon conferences, as assigned by the fellowship director. The formats will include patient presentations, literature reviews, and/or journal clubs. 6) Assist in the preparation and writing of manuscripts for publication 7) Assist in the preparation and writing of clinical protocols Over the past year, we have completed the training of Dr. Wadih Zein and initiated training of Kristen Bowles, O.D. Dr. Zein performed extremely well and was retained as a staff clinician for an additional two year period to assist in developing new clinical protocols. As part of the fellowship, all fellows are exposed to basic science research through the NEI DNA Diagnostic Lab. Fellows have been exposed to a wide variety of inherited eye diseases including retinitis pigmentosa, Stargardt disease, achromatopsia, Leber congenital amaurosis, coloboma, microphthalmia, anophthalmia, aniridia, WAGR, holoprosencephaly, cystinosis, Usher syndrome, neurofibromatosis type 2, albinism, xeroderma pigmentosum, trichothiodystrophy, and Bardet-Biedl syndrome. In addition, we have been active participants in the NIH-wide Undiagnosed Disease Program.

National Institute of Health (NIH)
National Eye Institute (NEI)
Clinical Training Intramural Research (ZIE)
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U.S. National Eye Institute
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Brooks, Brian P; Thompson, Amy H; Sloan, Jennifer L et al. (2016) Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. Ophthalmology 123:571-82
Johnston, Jennifer J; Lewis, Katie L; Ng, David et al. (2015) Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am J Hum Genet 96:913-25
Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico et al. (2015) Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet 97:99-110
Huynh, Nancy; Blain, Delphine; Glaser, Tanya et al. (2013) Systemic diagnostic testing in patients with apparently isolated uveal coloboma. Am J Ophthalmol 156:1159-1168.e4
Brooks, Brian P; Thompson, Amy H; Bishop, Rachel J et al. (2013) Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology 120:1324-36
Han, Joan C; Thurm, Audrey; Golden Williams, Christine et al. (2013) Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome. Cortex 49:2700-10
Feuillan, Penelope P; Ng, David; Han, Joan C et al. (2011) Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. J Clin Endocrinol Metab 96:E528-35
Tamura, Deborah; Merideth, Melissa; DiGiovanna, John J et al. (2011) High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies. Prenat Diagn 31:1046-53
Brooks, Brian P (2011) Making progress in albinism. J AAPOS 15:1-2
Ramkumar, Hema L; Brooks, Brian P; Cao, Xiaoguang et al. (2011) Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. Surv Ophthalmol 56:348-61

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