TY - JOUR
T1 - Something to Sink Your Teeth Into
AU - Couch, Steven M.
AU - Brodie, Scott E.
AU - Leavitt, Jacqueline A.
AU - Brodsky, Michael C.
N1 - Funding Information:
The authors reported no proprietary or commercial interest in any product mentioned or concept in this article. The article was supported in part by an unrestricted grant to the Department of Ophthalmology of Mayo Clinic from Research to Prevent Blindness, New York, NY.
PY - 2011/11
Y1 - 2011/11
N2 - A 21-year-old Kuwaiti man had cerebral palsy, retinitis pigmentosa, hypertension, and renal failure. His younger brother and sister displayed similar findings. Ocular motility examination disclosed aperiodic alternating skew deviation in the patient and his younger brother. Magnetic resonance imaging showed hypoplasia of the superior cerebellar vermis with a " molar tooth" sign. Genetic testing confirmed an AHPI gene mutation on chromosome 6p23.3 in the patient and his siblings, confirming the diagnosis of Joubert syndrome. This case demonstrates the need to consider the diagnosis of Joubert syndrome in adults with retinitis pigmentosa or familial alternating skew deviation.
AB - A 21-year-old Kuwaiti man had cerebral palsy, retinitis pigmentosa, hypertension, and renal failure. His younger brother and sister displayed similar findings. Ocular motility examination disclosed aperiodic alternating skew deviation in the patient and his younger brother. Magnetic resonance imaging showed hypoplasia of the superior cerebellar vermis with a " molar tooth" sign. Genetic testing confirmed an AHPI gene mutation on chromosome 6p23.3 in the patient and his siblings, confirming the diagnosis of Joubert syndrome. This case demonstrates the need to consider the diagnosis of Joubert syndrome in adults with retinitis pigmentosa or familial alternating skew deviation.
KW - Alternating skew deviation
KW - Joubert syndrome
KW - Molar tooth sign
KW - Retinitis pigmentosa
UR - http://www.scopus.com/inward/record.url?scp=82355164471&partnerID=8YFLogxK
U2 - 10.1016/j.survophthal.2010.12.002
DO - 10.1016/j.survophthal.2010.12.002
M3 - Article
C2 - 21458016
AN - SCOPUS:82355164471
SN - 0039-6257
VL - 56
SP - 544
EP - 549
JO - Survey of ophthalmology
JF - Survey of ophthalmology
IS - 6
ER -