TY - JOUR
T1 - Nightblindness-Associated Transient Tonic Downgaze (NATTD) in Infant Boys with Chin-Up Head Posture
AU - Simonsz, H. J.
AU - Florijn, R. J.
AU - van Minderhout, H. M.
AU - Bergen, A. A. B.
AU - Kamermans, M.
PY - 2009
Y1 - 2009
N2 - Eleven infant boys presented with chin-up head posture, tonic downgaze and, on attempted upgaze, large-amplitude upward saccades with deceleration during the slow phase downward. The gaze-evoked upward saccades disappeared at the age of 2 or 3 years. In addition, they had high-frequency, small-amplitude horizontal pendular nystagmus that remained. Among these infant boys were 2 pairs of maternally related half-brothers, 2 cousins, and 2 siblings. Visual acuity ranged from 0.1 to 0.6, ERG-amplitudes (both A- and B-wave) were reduced, and severe myopia was found in 5 cases. Eight boys had CACNA1F mutations, and 1 boy had a NYX mutation, compatible with incomplete or complete congenital stationary nightblindness (iCSNB or cCSNB), respectively. This points to a defective synapse between the rod and the ON-bipolar cell causing the motility disorder: CACNA1F is located on the rod side of this synapse, whereas NYX is located on the side of the ON-bipolar cell. The coexistence of horizontal and vertical nystagmus has been previously described in dark-reared cats
AB - Eleven infant boys presented with chin-up head posture, tonic downgaze and, on attempted upgaze, large-amplitude upward saccades with deceleration during the slow phase downward. The gaze-evoked upward saccades disappeared at the age of 2 or 3 years. In addition, they had high-frequency, small-amplitude horizontal pendular nystagmus that remained. Among these infant boys were 2 pairs of maternally related half-brothers, 2 cousins, and 2 siblings. Visual acuity ranged from 0.1 to 0.6, ERG-amplitudes (both A- and B-wave) were reduced, and severe myopia was found in 5 cases. Eight boys had CACNA1F mutations, and 1 boy had a NYX mutation, compatible with incomplete or complete congenital stationary nightblindness (iCSNB or cCSNB), respectively. This points to a defective synapse between the rod and the ON-bipolar cell causing the motility disorder: CACNA1F is located on the rod side of this synapse, whereas NYX is located on the side of the ON-bipolar cell. The coexistence of horizontal and vertical nystagmus has been previously described in dark-reared cats
U2 - https://doi.org/10.3109/09273970903396893
DO - https://doi.org/10.3109/09273970903396893
M3 - Article
C2 - 20001510
SN - 0927-3972
VL - 17
SP - 158
EP - 164
JO - Strabismus
JF - Strabismus
IS - 4
ER -