title: How genetics works? An illustrative case report.
abstract: In this communication, we report the case of a four year old boy who presented with reduced vision in the right eye. He had visual acuity of light perception right eye and 6/12 in the left eye and anterior segment examination was normal. Fundus examination of the right eye showed a falciform retinal fold extending from the optic nerve temporally involving the entire retina with exudates within the falciform fold and dense pigmentation peripherally. The left eye showed mild macular temporal dragging of the vessels and 360° of peripheral laser scars. In addition he also had some characteristic systemic features such as developmental delay, obesity, dysmorphic facies and tapered fingers. Using this case as an example, we present a systematic, logical approach to a patient with a possible genetic disorder. The growing field of ocular genetics now allows for improved diagnosis using step-wise cost efficient testing as demonstrated herein.
authors.affiliation: Department of Ocular Genetics, Wills Eye Hospital, Philadelphia, PA, USA.
authors.forename: Vikas
authors.initials: V
authors.lastname: Khetan
authors.affiliation: Department of Ocular Genetics, Wills Eye Hospital, Philadelphia, PA, USA.
authors.forename: Mario
authors.initials: M
authors.lastname: Zanolli
authors.affiliation: Department of Ocular Genetics, Wills Eye Hospital, Philadelphia, PA, USA.
authors.forename: Jenina
authors.initials: J
authors.lastname: Capasso
authors.affiliation: Geisinger Health System, Sranton, PA, USA.
authors.forename: Nanette Zale
authors.initials: NZ
authors.lastname: Refice
authors.affiliation: Penn State Hershey Eye Center, PA, USA.
authors.forename: Kimberley
authors.initials: K
authors.lastname: Neeley
authors.affiliation: Department of Ocular Genetics, Wills Eye Hospital, Philadelphia, PA; Thomas Jefferson University, PA, USA.
authors.forename: Alex V
authors.initials: AV
authors.lastname: Levin
mesh_terms: D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D015785:Eye Diseases, Hereditary; D005136:Eye Proteins / Q000235:genetics*; D000080345:Familial Exudative Vitreoretinopathies; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity
chemical_list: D005136:Eye Proteins; D004247:DNA