ABSTRACT
Purpose: To evaluate the causes, associated neurological and ocular findings in children with cerebral visual impairment (CVI), and to identify risk factors for severe vision impairment. Methods: A multicenter, retrospective, cross?sectional analysis was carried out from January 2017 to December 2019 on patients less than 16 years of age with a diagnosis of CVI. Results: A total of 405 patients were included of which 61.2% were male and 38.8% were female. The median age at presentation was 4 years (range 3 months to 16 years). Antenatal risk factors were present in 14% of the cases. The most common cause of CVI was hypoxic?ischemic encephalopathy (35.1%), followed by seizure associated with brain damage (31.3%). The most common neurological finding was seizure (50.4%), followed by cerebral palsy (13.6%). Associated ophthalmological findings were significant refractive error (63.2%), esotropia (22.2%), exotropia, (38%), nystagmus (33.3%), and optic nerve atrophy (25.9%). Severe visual impairment (<20/200) was associated with optic atrophy (odds ratio: 2.9, 95% confidence interval: 1.4–6.0; P = 0.003) and seizure disorder (odds ratio: 1.9, 95% confidence interval: 1.2–3.3; P = 0.012). Conclusion: The various ophthalmic, neurological manifestations and etiologies could guide the multidisciplinary team treating the child with CVI in understanding the visual impairment that affects the neuro development of the child and in planning rehabilitation strategies
ABSTRACT
We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane retraction syndrome and deafness. Since the first case was reported in 1952, there have been more reports describing this triad, either complete or incomplete. Our patient had the complete triad of the syndrome along with cleft palate and short stature. Also, a review of the literature regarding this syndrome is presented here.