Open AccessHow genetics works? An illustrative case report
Author(s) -
Vikas Khetan,
Mario Zanolli,
Jenina E. Capasso,
Nanette Zale Refice,
Kimberley Neeley,
Alex V. Levin
Publication year - 2016
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.185629
Subject(s) - medicine , fundus (uterus) , ophthalmology , blind spot , optometry , visual acuity , scars , visual field , retina , surgery , artificial intelligence , neuroscience , biology , computer science
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.