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Data analysis was performed in a prospective study of clinical symptoms and findings in 500 patients with retinitis pigmentosa. The symptoms and findings in these patients met the usual definitions of the disease. At initial examination the patients were questioned in a standardized manner; symptoms
The case of a 56-year-old female patient is presented; she was hospitalized for decreased vision of both eyes, discrete hemeralopia, vertigo, right hypoacusis and occipital headache. The eye fundus examination showed lesions of retinitis pigmentosa in the inferotemporal sector and decreased arterial
A 34-year-old woman presented with new intermittent short lasing headache around the left eye accompanied with lacrimation. She suffered from anemia and visual disturbance due to thalassaemia beta heterotype and retinitis pigmentosa. She also had continual cephalalgia from about 9 years old, and was
Background: Retinitis pigmentosa (RP) is one of the most severe hereditary retinal disorders with a worldwide prevalence reaching 1 in every 3000-5000 people and a total of almost one million affected individuals. RP is heterogeneous in
OBJECTIVE
To determine the mode of presentation and degree of visual impairment of retinitis pigmentosa in Nigerians.
METHODS
A prospective, non-comparative study.
METHODS
University of Benin Teaching Hospital, Benin City, Nigeria.
METHODS
Thirty Nigerian patients with a diagnosis of retinitis
Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle, vision was recently successfully restored by oral administration of 9-cis-retinyl acetate (QLT091001). Safety and visual outcomes of a once-daily
We report a rare brain developmental anomaly in Usher's syndrome. We present a 43-year-old male with visual disturbance, hearing loss, and headache. Retinitis pigmentosa and sensorineural hearing loss were determined and he was diagnosed with Usher's syndrome according to the clinical findings.
OBJECTIVE
Ophthalmologic and neurologic manifestations of the mitochondrial DNA mutation at position 8993 (MTATP*NARP8993) are reported and compared with previously published reports of patients with the 8993 mutation and other mitochondrial disorders.
METHODS
Pedigree analysis.
METHODS
University
Congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present four patients with CDG whose phenotypes suggested the diagnosis of a mitochondrial disease. Patients 1 and 2 are siblings with hemiplegic
A 39 year-old male with a history of diabetes, retinitis pigmentosa, and genital warts presented with intractable occipital headaches accompanied with nausea and vomiting. The patient had markedly depressed CD4 counts. Furthermore the patient tested negative for HIV and HTLV 1/2 and had normal
A 41-year-old female of mitochondrial myopathy characterized by recurrent paralytic ileus and atonic bladder with the evidence of peripheral nerve involvement was described. This patient was admitted to our hospital because of the episode of paralytic ileus and atonic bladder at the age of 40 and 41
Even in the presence of normal blood pressure (B.P.) in both arms in some individuals, abnormal B.P. and circulatory disturbances can be found in the brain and lower extremities. The author discovered the following five types of abnormal B.P. in the brain in the presence or absence of normal B.P. in
The central nervous system (CNS) is, after the peripheral nervous system, the second most frequently affected organ in mitochondrial disorders (MCDs). CNS involvement in MCDs is clinically heterogeneous, manifesting as epilepsy, stroke-like episodes, migraine, ataxia, spasticity, extrapyramidal
OBJECTIVE
To assess the character and cause of photopsias in vitreoretinal patients.
METHODS
Cross-sectional study.
METHODS
A total of 169 consecutive patients (217 eyes) with vitreoretinal disease presenting with a history of photopsias.
METHODS
A total of 217 eyes with photopsias in 169 patients
Since the first mitochondrial dysfunction was described in the 1960s, the medicine has advanced in its understanding the role mitochondria play in health and disease. Damage to mitochondria is now understood to play a role in the pathogenesis of a wide range of seemingly unrelated disorders such as