Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects
نویسندگان
چکیده
منابع مشابه
Congenital ocular motor apraxia
Congenital ocular motor apraxia, described in 1952 by Professor David Cogan, is characterized by defective or absent voluntary and optically induced horizontal saccades and compensatory jerky head movements or thrusts to accomplish ocular refixation (1-3). The most common initial sign is the inability to follow objects visually. The diagnosis is usually made between the fourth and eighth months...
متن کاملCongenital ocular motor apraxia.
Nine patients with congenital ocular motor apraxia (COMA) are presented and the natural history of this condition is considered. Two presented in early infancy, before the onset of the head thrust, and the means of establishing the diagnosis at this age are discussed. All exhibited motor delay in infancy which lessened, but did not completely resolve, with time. Conceptual delay, particularly w...
متن کاملFamilial congenital ocular motor apraxia.
Congenital ocular motor apraxia (COMA) is a unique ocular motor disorder which is characterized by a deficit in initiation of voluntary horizontal eye movement with reserved reflex eye movement. Although a portion of cases with COMA were found to be associated with other abnormalities, COMA in most patients is an isolated disorder. The most characteristic appearance of these patients is compens...
متن کاملSpasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia.
BACKGROUND Spasmus nutans and congenital ocular motor apraxia share clinical characteristics. However, their development in a patient with cerebellar vermian hypoplasia has not been previously described. OBJECTIVE To report spasmus nutans and congenital ocular motor apraxia in a child with cerebellar vermian hypoplasia. DESIGN Case report. SETTING Tertiary-care hospital. Patient A 7-year-...
متن کاملAcquired ocular motor apraxia after aortic surgery.
PURPOSE To describe an unusual form of acquired ocular motor apraxia. METHODS Case reports with electronic eye movement recordings. RESULTS Three patients had surgery to repair aortic root or arch dissections or aneurysms. A few days after surgery, all had ophthalmoplegia. Neuro-ophthalmic examination found complete absence of horizontal and vertical volitional and reflex saccades in 1 pati...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Canadian Journal of Ophthalmology
سال: 2016
ISSN: 0008-4182
DOI: 10.1016/j.jcjo.2016.01.003