Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children

To report the diagnosis of three childhood patients with blue-cone monochromatism (BCM) using S-cone electroretinograms (ERG) recorded with RETeval^® Complete.

Prospective clinical study.

We examined three boys initially suspected of having rod monochromatism. S-cone ERG was performed with red background and blue flashed light stimulation using two different intensities: 0.25 cd × s/m² and 1 cd × s/m².

Case 1 was a 12-year-old boy with a visual acuity of 0.1 OU. Case 2 was an 8-year-old boy with a visual acuity of 0.3 OD and 0.2 OS. Both cases showed a myopic fundus and nystagmus without any other ocular abnormalities. Case 3 was a 6-year-old boy with a visual acuity of 0.3 OD and 0.4 OS. He also showed myopic fundus changes, but nystagmus was not observed. Rod and maximal responses recorded with RETeval^® were likely to be within normal range; however, cone responses were absent in all cases. S-cone ERGs showed positive responses at 40 ms with 0.25 cd × s/m² intensity in Case 2, and at approximately 30-40 ms with 1.0 cd × s/m² intensity in all three cases. These ERG findings led to a diagnosis of BCM.

S-cone ERG of RETeval^® was helpful in diagnosing with minimal invasion BCM in childhood patients.