Cases reported "Vision Disorders"

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1/42. Progressive cone dystrophies.

    patients with progressive generalized cone dystrophy often present nystagmus (or strabism) and complain of photophobia, decrease in visual acuity or disturbances in colour perception. The most classic fundus abnormality is the bull's eye maculopathy or a pallor of the optic disc. Minimal macular changes are sometimes seen, which may progress to a bull's eye type of macular degeneration. The photopic ERG is always very affected, whereas at first the scotopic ERG seems normal. Progressive deterioration of the visual functions is accompanied by increasing fundus lesions and rod involvement, as suggested by the modifications of the dark adaptation curve and the scotopic ERG. However, the progression of typical generalized cone dysfunction is very slow. On the contrary, in some cases of so-called Stargardt's disease with peripheral participation, a very rapid progression has been observed. In such cases a normal ERG does not necessarily mean that the disease will remain localized to the macular area. No definite prognosis can be made on one single ERG. In 3 cases with sector pigmentary retinopathy the photopic ERG was more affected than the scotopic ERG. However, these cases are probably primary cone-rod dystrophies. Although there is no electrophysiological control, our clinical impression is that the evolution, if possible, is very slow.
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ranking = 1
keywords = nystagmus
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2/42. A pilot study of gabapentin as treatment for acquired nystagmus.

    The effects of the anticonvulsant gabapentin were measured on vision and eve movements in three patients with acquired pendular nystagmus. In two patients, the nystagmus was associated with multiple sclerosis and, in the other, it followed brainstem stroke. A single oral 600 mg dose of gabapentin produced improvement of vision due to changes in ocular oscillations in all three patients. The effect was sustained after five weeks of treatment in two patients who elected to continue taking gabapentin 900-1500 mg/day. The results of this pilot study suggest that a controlled trial of gabapentin should be conducted to evaluate its role in the treatment of acquired forms of nystagmus.
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ranking = 7
keywords = nystagmus
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3/42. Surgical treatment of congenital nystagmus in patients with singular binocular vision.

    Operative treatment of congenital jerk-type nystagmus with ocular torticollis in patients with single binocular vision is discussed. The mechanism causing the head turn as well as the methods used in measuring the head turn and the selection of surgical procedures to correct it are analyzed. The results of 7 cases operated upon for this condition are presented.
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ranking = 5
keywords = nystagmus
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4/42. septo-optic dysplasia: a literature review.

    BACKGROUND: septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia with any combination of absent septum pellucidum and/or pituitary dysfunction. SOD may manifest as strabismus, nystagmus, decreased visual acuity, or visual impairment; as an endocrine dysfunction in isolation; or in addition to mental retardation, cerebral palsy, developmental delay, or delayed growth. METHOD: This article reviews the presenting signs and symptoms of SOD, optic nerve hypoplasia, consequences of an absent septum pellucidum, endocrine findings associated with SOD, SOD diagnosis determination, syndromes associated with SOD, and optometry's role in caring for these patients. It also examines two cases that demonstrate the variety and severity of visual and physical impairments associated with SOD. RESULTS: SOD has a multi-factorial etiology, including insult during pregnancy (e.g., viral infections, gestational diabetes); vascular disruption; or a genetic mutation. Children with SOD may manifest a variety of visual and/or physical symptoms that range from mild to severe. CONCLUSIONS: The associated vision, developmental, neurologic, and endocrine disturbances require early diagnosis and management. Optometrists need to be aware of optic nerve hypoplasia (ONH) and consider this diagnosis in patients with visual acuity loss. A comprehensive eye examination and visual-field assessment should be completed in addition to appropriate referrals for endocrine, developmental, and/or cognitive anomalies.
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ranking = 1
keywords = nystagmus
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5/42. Cone-rod dystrophy and acquired dissociated vertical nystagmus.

    Although usually a manifestation of vestibular or neurological disease, acquired nystagmus occasionally can be seen in ocular diseases such as ocular albinism and cone dystrophy. The present case of cone-rod dystrophy presenting with acquired dissociated vertical nystagmus probably demonstrates another unusual manifestation of cone-rod dystrophy.
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ranking = 6
keywords = nystagmus
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6/42. Effect of 4-aminopyridine on upbeat and downbeat nystagmus elucidates the mechanism of downbeat nystagmus.

    The potassium channel blocker 4-aminopyridine (4-AP) restored vertical smooth pursuit and gaze holding in light in one patient with upbeat (UBN) and in one with downbeat nystagmus (DBN). Without a visible target, however, 4-AP had no effect on UBN, but DBN vanished. We hypothesize that this difference in the effects of 4-AP, which is known to increase the excitability of cerebellar purkinje cells, can be attributed to the different lesion sites involved in UBN and DBN.
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ranking = 9
keywords = nystagmus
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7/42. Symptomatic arnold-chiari malformation and cranial nerve dysfunction: a case study of applied kinesiology cranial evaluation and treatment.

    OBJECTIVE: To present an overview of possible effects of arnold-chiari malformation (ACM) and to offer chiropractic approaches and theories for treatment of a patient with severe visual dysfunction complicated by ACM. CLINICAL FEATURES: A young woman had complex optic nerve neuritis exacerbated by an ACM type I of the brain. INTERVENTION AND OUTCOME: Applied kinesiology chiropractic treatment was used for treatment of loss of vision and nystagmus. After treatment, the patient's ability to see, read, and perform smooth eye tracking showed improvement. CONCLUSION: Further studies into applied kinesiology and cranial treatments for visual dysfunctions associated with ACM may be helpful to evaluate whether this single case study can be representative of a group of patients who might benefit from this care.
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ranking = 1
keywords = nystagmus
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8/42. Disturbed visual system function in methionine synthase deficiency.

    BACKGROUND: Isolated functional methionine synthase deficiency occurs in the cblE and cblG defects of methylcobalamin metabolism and is one of a number of causes of severely elevated plasma homocysteine. Clinical features are predominantly of a neurological nature but also include functional restriction of the visual system manifesting as loss of visual acuity and nystagmus. As yet, the origin and pathogenesis of impaired vision have not been explained. MATERIALS AND methods: We investigated a patient who was proven by complementation analysis in cultured fibroblasts to belong to the cblG complementation group. Ganzfeld electroretinograms (ERG) and flash visual evoked potentials (VEP) were recorded over a period of 4 years. RESULTS: Amplitudes of all International Society for Clinical electrophysiology of Vision (ISCEV) standard responses were below normal. The greatest reductions were of rod response to 24 microV, of standard combined response (SC) b-wave to 120 microV, of oscillatory potentials (OP) to 5 microV, of cone response b-wave to 35 microV, and of 30 Hz flicker response to 8 microV. Except for SC and cone a-waves at age 2.5 and 3.5 years, as well as cone b-wave at 3.5 years, amplitudes remained at a subnormal level at follow-up examinations. Implicit times were slightly prolonged (SC b-wave 6 ms, OPs 2 ms, cone b-wave 2 ms, 30 Hz flicker 4 ms) or fell within the normal range. Responses of the flash VEP were severely deformed but reproducible. CONCLUSIONS: This is the first report of detailed investigations of the visual system in a patient with isolated methionine synthase deficiency. Reduced oscillatory potentials suggest microvascular damage to the retina through homocysteine. Decreased photoreceptor function as well as ganglion cell loss as indicated by pathological flash VEPs may reflect a cytotoxic impact of homocysteine on neurons of the visual pathway.
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ranking = 1
keywords = nystagmus
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9/42. Wernicke-korsakoff syndrome associated with hyperemesis gravidarum.

    PURPOSE: The authors hereby describe a case of Wernicke-korsakoff syndrome with accompanying ocular findings that is caused by hyperernesis gravidarum. methods: We experienced a 27-year-old female at 12 weeks of pregnancy, who visited our clinic because of weight loss, gait disturbance, decreased mentality and dizziness after prolonged vomiting for 2 months. Neurological examination demonstrated ataxia of gait and loss of orientation. Ophthalmologic examination showed decreased visual acuity, upbeat nystagmus, diplopia and retinal hemorrhage. RESULTS: We report a relatively rare case of Wernicke-korsakoff syndrome with ophthalmic symptoms induced by hyperemesis gravidarum. CONCLUSIONS: If a pregnant women has symptoms of severe vomiting along with other ocular findings such as retinal hemorrhage or restricted extraocular movement, one must suspect the diagnosis of Wernicke-korsakoff syndrome, and should start appropriate treatment immediately.
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ranking = 1
keywords = nystagmus
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10/42. Achiasmia and unilateral optic nerve hypoplasia in an otherwise healthy infant.

    An 18-month-old white boy, observed by his parents at 1-2 months age to have poor visual attentiveness and nystagmus, underwent an ophthalmological evaluation. The patient also underwent unsedated 5-channel flash visual evoked potentials (VEP) and sedated electroretinogram (ERG) testing as well as magnetic resonance imaging (MRI) of the brain and orbits. The VEP in response to monocular stimulation demonstrated occipital asymmetry and was clearly suggestive of crossed asymmetry and also showed right optic nerve hypoplasia. The MRI and fundoscopic examinations supported the findings of achiasmia and probable optic nerve hypoplasia. The patient also had decreased Teller card visual acuity, nystagmus and a variable right esotropia. Neurological examination was normal. The ophthalmological and MRI findings in this 18-month-old male patient support the diagnosis of isolated non-decussating retinal-fugal fibre syndrome as well as hypoplasia of the optic nerve.
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ranking = 2
keywords = nystagmus
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