A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome).
Poor night vision and pigmentary retinopathy are hallmarks of retinitis pigmentosa, but variations in the type of pigmentation and in the characteristics of the electroretinogram (ERG) can point to other diagnoses. The case below (enhanced S cone syndrome) is a good example of this, and demonstrates the diagnostic importance of clinical electrophysiology.
Marmor
Michael F
MF
Department of Ophthalmology, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305-5308, USA, marmor@stanford.edu
D000293:Adolescent; D003937:Diagnosis, Differential; D004596:Electroretinography; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis*; D008297:Male; D009755:Night Blindness / Q000150:complications / Q000175:diagnosis*; D017949:Retinal Cone Photoreceptor Cells; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis*; D012174:Retinitis Pigmentosa / Q000175:diagnosis; D041441:Retinoschisis / Q000175:diagnosis; D013577:Syndrome