Common neurological symptoms include diminished muscle tone (hypotonia), seizures, deficits in attaining developmental milestones (developmental disability), varying degrees of cognitive impairment, and underdevelopment of the cerebellum (cerebellar hypoplasia [rarediseases.org]

Among the congenital ataxias, Joubert’s syndrome combines episodic abnormal eye movements and hyperpnea. Some have ocular motor apraxia or congenital fibrosis syndromes. [neuroophthalmology.ca]

Exertional dyspnea is frequent, with angina less frequent. 65% have an abnormal ECG with inverted T-waves and signs of ventricular hypertrophy. Late in the disease there is heart failure and arrhythmias such as atrial fibrillation. [neuroophthalmology.ca]

In this instance it may reflect an underlying mechanism of migraine or cerebro-vascular disease (this is the authors opinion). Leigh RJ, Zee DS. (1991) The neurology of eye movement (2nd Edn), FA Davis (Philadelpha). Yee, R. D. (1989). [tchain.com]

Cardiac abnormalities include ventricular hypertrophy and systolic ejection murmurs. Exertional dyspnea is frequent, with angina less frequent. 65% have an abnormal ECG with inverted T-waves and signs of ventricular hypertrophy. [neuroophthalmology.ca]

By: Blind Children's Center CORTICAL VISUAL IMPAIRMENT Cortical Visual Impairment (CVI) is a temporary or permanent visual impairment caused by the disturbance of the posterior visual pathways and/or the occipital lobes of the brain. [tarrant.tx.networkofcare.org]

Suggested resource: Return to the Top N Neurological visual impairment (NVI) See cortical visual impairment. [afb.org]

It is characterized by adolescent onset, central visual impairment and the frequent appearance of orange-yellow flecks. Other inherited macular dystrophies include Sorsby fundus dystrophy. [centogene.com]

Some symptoms of this disorder can be treated, but the visual impairment usually cannot be corrected. [tsbvi.edu]

Therefore, patients should not have succinylcholine or have to stop the drops at least six weeks prior to surgery 21. a.T b.F c.F d.T e.T Infantile esotropia: the patients typically present in the first six months of life there is a large angle esotropia [mrcophth.com]

It is often seen in patients with congenital esotropia and following surgery for infantile esotropia, probably resulting from subnormal binocular interaction. [emedicine.medscape.com]

Infantile nystagmus has 4 types: idiopathic (see below), ocular nystagmus associated with albinism and ophthalmological malformations, latent type nystagmus occurring with esotropia, and spasmus nutans that appears later (6-12 months) has head nodding [pediatriceducation.org]

Other forms of nystagmus include latent nystagmus in patients with esotropia (1009), convergence nystagmus related to aqueductal dysfunction (1016), and a jerk form of seesaw nystagmus (1017,1020). [neuroophthalmology.ca]

Parkinsonism, sometimes dopa-responsive, is present in some Chinese kindreds, and in combination with a vertical gaze palsy can mimic PSP (973). Gaze palsy correlates with disease severity and duration (1041). Nystagmus is rare. [neuroophthalmology.ca]

A rash with blisters and lesions on the skin and mucus membranes develops, which damages the eyes and causes the top layer of the skin to separate and die. [tsbvi.edu]

Fanconi, in 1927 he described hereditary panmyelopathy with short stature and hyperpigmentation, better known as Fanconi anemia. [wikivisually.com]

Neurology, 60,2003, 344 Central nystagmus (downbeat, upbeat nystagmus, horizontal, torsional) Upbeat nystagmus (UBN). [tchain.com]

Upbeat Nystagmus Commonly caused by drug intoxication (eg phenytoin - used a san anticonvulsant) May be associated with a brain lesion at the posterior fossa 14. [slideshare.net]

nystagmus 0011477 Showing of 7 Last updated: 7/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Immunologic deficits are manifest as lymphopenia and low serum levels of IgG and IgA; patients have frequent respiratory and cutaneous infections. 20% of patients develop malignancies. Heterozygote relatives are also at increased risk for cancer. [neuroophthalmology.ca]

Cardiac abnormalities include ventricular hypertrophy and systolic ejection murmurs. Exertional dyspnea is frequent, with angina less frequent. 65% have an abnormal ECG with inverted T-waves and signs of ventricular hypertrophy. [neuroophthalmology.ca]

Exertional dyspnea is frequent, with angina less frequent. 65% have an abnormal ECG with inverted T-waves and signs of ventricular hypertrophy. Late in the disease there is heart failure and arrhythmias such as atrial fibrillation. [neuroophthalmology.ca]