Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia.

TitleOcular manifestations in Kabuki syndrome: the first report from Saudi Arabia.
Publication TypeJournal Article
Year of Publication2008
AuthorsChaudhry IA, Shamsi FA, Alkuraya HS, Al-Sharif A
JournalInternational ophthalmology
Volume28
Issue2
Pagination131-4
Date Published2008 Apr
Abstract

BACKGROUND: Kabuki syndrome (KS) is a multiple congenitali anomalyi syndrome in which ophthalmological examination for the early detection of oculari abnormalities is desired in order to prevent visual impairment. CASE: Retrospective, interventional, case report of a 5-year-old female patient of Arabic origin with features of Kabuki syndrome. OBSERVATION: Patient had neurological deficit, psychomotor retardation, a peculiar face, including large prominent cup shaped ears, broad depressed nasali tip, and high arched palate, and malformed teeth. Her ocular features suggestive of Kabuki syndrome included left upper eyelid congenital ptosisi, lagophthalmos, arched eyebrows with temporal sparing of hair, long horizontal palpebral fissuresi, laterali lower eyelid eversioni and resultant epiphora. Other abnormalities included medial lower epicanthal folds, abduction deficit bilaterally, large esotropiai, significant hyperopia, right corneal opacity, iris and chorioretinal colobomai. 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.

Alternate JournalInt Ophthalmol
Citation Key17701103