Ophthalmic Genetics Fellowship

National Eye Institute

Investigators

Linked publications & trials

Abstract

The duties of an ophthalmic genetics fellow include: 1) Assisting in the work-up of ophthalmic genetics patients, including taking of pertinent medical and family history and ophthalmic examination when clinical privileges are granted. This includes becoming proficient in the examination and treatment of ophthalmic genetics patients, including electrodiagnostics (ERGs, multifocal ERGs, VEPs) and psychophysical testing (Goldmann perimetry and dark adaptation). The fellow is expected to work at least one day a week with each of the clinical attendings in the OGVFB; one day a week is reserved for academic and administrative duties. 2) Obtain a working knowledge of clinical and molecular genetics. This may be augmented with formal coursework in FAES, 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) Perform a clinical or basic science research project with the approval of the fellowship director and supervision of PI. 4) 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. 5) Assist in the preparation and writing of manuscripts for publication 6) Assist in the preparation and writing of clinical protocols Dr. Veres worked as a research Fellow in Ophthalmic Genetics during this review period and Dr. Sibulo has started as clinical fellow. Fellows have been exposed to a wide variety of inherited eye disorder diagnoses 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.