Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy.
OBJECTIVE
To establish the normal range of values for rod-isolated b-wave amplitudes in achromatopsia and cone dystrophies.


METHODS
We reviewed charts of 112 patients with various types of cone dystrophy, and compared their standardized electroretinographic rod b-wave amplitudes with age-matched normal controls. Twenty-six patients had known mutations in achromatopsia and cone dystrophy genes, while 53 were characterized by their inheritance pattern since they had yet to have their gene identified. Visual acuity information and scotomata were documented.


RESULTS
We found that patients with achromatopsia and cone dystrophy had rod b-wave amplitudes that were significantly lower than age-matched controls, but found no evidence of rod amplitude progression nor loss of peripheral visual fields in the study group.


CONCLUSIONS
We found that cone dystrophy patients of all types had depressed rod-isolated ERGs across the board. If typical diagnostic criteria are used, these patients might be considered to have "abnormal" rod-isolated electroretinographic values, and might be called "cone-rod dystrophy", even though the waveforms are stable for years. Patients with cone-rod dysfunction patterns on ERG can be better understood by also performing kinetic (Goldmann) visual fields, which will help to distinguish cone dystrophies from progressive cone-rod dystrophies by central scotomata size and progression over time in many forms of cone-rod dystrophy.
Kellogg Eye Center, University of Michigan Medical Center, Ann Arbor, MI 48105, USA.
Isaac
I
Wang
Kellogg Eye Center, University of Michigan Medical Center, Ann Arbor, MI, 48105, USA.
Naheed W
NW
Khan
Kellogg Eye Center, University of Michigan Medical Center, Ann Arbor, MI, 48105, USA.
Kari
K
Branham
Molecular Genetics Laboratory and Molecular Genetics of Sensory Systems, Institute for Ophthalmic Research, Centre for Ophthalmology, Röntgenweg 11, 72076, Tübingen, Germany.
B
B
Wissinger
Molecular Genetics Laboratory and Molecular Genetics of Sensory Systems, Institute for Ophthalmic Research, Centre for Ophthalmology, Röntgenweg 11, 72076, Tübingen, Germany.
Susanne
S
Kohl
Kellogg Eye Center, University of Michigan Medical Center, Ann Arbor, MI, 48105, USA. jrheck@umich.edu.
J R
JR
Heckenlively
D000328:Adult; D000368:Aged; D003117:Color Vision Defects / Q000235:genetics / Q000503:physiopathology*; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D017949:Retinal Cone Photoreceptor Cells / Q000502:physiology*; D017948:Retinal Rod Photoreceptor Cells / Q000502:physiology*; D012189:Retrospective Studies; D012607:Scotoma / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
C518238:CNGA3 protein, human; C415904:CNGB3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels; C489610:KCNV2 protein, human; D024642:Potassium Channels, Voltage-Gated