Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia.
BACKGROUND
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome in which ophthalmological examination for the early detection of ocular abnormalities is desired in order to prevent visual impairment.


METHODS
Retrospective, interventional, case report of a 5-year-old female patient of Arabic origin with features of Kabuki syndrome.


METHODS
Patient had neurological deficit, psychomotor retardation, a peculiar face, including large prominent cup shaped ears, broad depressed nasal tip, and high arched palate, and malformed teeth. Her ocular features suggestive of Kabuki syndrome included left upper eyelid congenital ptosis, lagophthalmos, arched eyebrows with temporal sparing of hair, long horizontal palpebral fissures, lateral lower eyelid eversion and resultant epiphora. Other abnormalities included medial lower epicanthal folds, abduction deficit bilaterally, large esotropia, significant hyperopia, right corneal opacity, iris and chorioretinal coloboma. Patient required hyperopic correction and ptosis surgery, which improved her visual functioning.


CONCLUSIONS
We report the first case of a Kabuki syndrome patient from Saudi Arabia and stress on the importance of ophthalmological examination in all patients with KS for the early detection of ocular anomalies in order to prevent visual impairment.
Chaudhry
Imtiaz A
IA
Oculoplastic and Orbit Division, King Khaled Eye Specialist Hospital, P.O. Box 7191, Riyadh 11462, Saudi Arabia. orbitdr@hotmail.com
Shamsi
Farrukh A
FA
Alkuraya
Hisham S
HS
Al-Sharif
Abdulrahman
A
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D005124:Eye Abnormalities; D005145:Face; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D013577:Syndrome
J Pediatr. 1981 Oct;99(4):570-3
7277097
J Pediatr. 1981 Oct;99(4):565-9
7277096
Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):57-65
12561059
Clin Genet. 2005 Mar;67(3):209-19
15691356
Am J Med Genet A. 2003 Dec 15;123A(3):249-52
14608645
Clin Genet. 2003 Dec;64(6):509-16
14986831
Am J Med Genet A. 2004 Jul 15;128A(2):170-2
15214010
Am J Med Genet. 1988 Nov;31(3):565-89
3067577
Ophthalmic Genet. 2000 Mar;21(1):51-61
10779849
Ann Ophthalmol. 1989 Aug;21(8):312-5
2802456
Clin Genet. 1990 Nov;38(5):378-81
2282718
Eye (Lond). 2004 Mar;18(3):322-4
15004588