Cases reported "Albinism, Oculocutaneous"

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1/12. Primary malignant melanoma of the lung in oculocutaneous albino patient.

    Oculocutaneous albinism is a rare autosomal recessive disorder characterized by general depigmentation, nystagmus, photophobia, and decreased visual acuity. Malignant melanoma is extremely rare in patients with albinism. We present a 41-year-old albino male patient, who was admitted with a suspected bronchogenic carcinoma. He underwent a pulmonary resection and the diagnosis was primary malign melanoma of the lung. The patient died of tumor recurrence in the postoperative 46th month.
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ranking = 1
keywords = nystagmus
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2/12. Unilateral acquired upper eyelid ptosis and decreasing nystagmus.

    PURPOSE: To describe a patient with congenital nystagmus that decreased in one eye after the development of a cavernous sinus meningioma. DESIGN: Interventional case report. methods: A 45-year-old man with congenital nystagmus, albinism, and high myopia presented with right upper eyelid ptosis that was corrected surgically on three occasions during a 3-year period. An episode of syncope was followed by diagnostic evaluation that disclosed a cavernous sinus meningioma. He commented that his right eye nystagmus progressively decreased. He was found to have ophthalmoplegia on the right eye due to nerve compression by the meningioma. RESULTS: A magnetic resonance imaging scan disclosed a cavernous sinus meningioma extending into the parachiasmal and clival areas. A biopsy specimen of the lesion demonstrated a meningioma. CONCLUSIONS: Any patient with acquired ptosis should have a complete ophthalmic examination, including evaluation of extraocular motility.
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ranking = 7
keywords = nystagmus
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3/12. Posterior chamber intraocular lens implantation in a patient with oculocutaneous albinism.

    A 56-year-old woman with tyrosinase-negative oculocutaneous albinism complained of gradually decreasing vision in the left eye. Her visual acuity was 20/300 in the right eye and hand motion in the left eye. She had pink skin and white hair and cilia. On examination, bilateral hypopigmented irides, an opaque lens in the left eye, a hypopigmented fundus in the right eye, and nystagmus were found. An extra-capsular cataract extraction with posterior chamber intraocular lens (IOL) implantation was performed. After retrobulbar anesthesia was administered, the nystagmus ceased temporarily. Postoperatively, visual acuity in the left eye improved to 20/200. We believe IOL implantation is useful in the treatment of cataracts in albino patients.
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ranking = 2
keywords = nystagmus
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4/12. Oculocutaneous albinism: variable expressivity of nystagmus in a sibship.

    Traditionally, the diagnosis of ocular or oculocutaneous albinism (OCA) is based on a constellation of features including the presence of nystagmus associated with iris transillumination defects, hypopigmentation of the fundus, and hypoplasia of the fovea and optic nerve head. Nystagmus is the most frequent ocular sign for the ascertainment of albinism particularly in individuals who have lightly-pigmented parents. We report two siblings, a male and female, with minimal, if any, pigmentation of skin and hair, iris transillumination defects, blond fundi, and hypoplasia of the foveae and optic nerve heads who were discordant for nystagmus; the diagnosis of OCA was based on the clinical findings. These siblings presumably have the same genetic hypopigmentation defect and demonstrate that nystagmus is not a consistent finding in OCA and may not be an absolute criterion for diagnosis.
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ranking = 7
keywords = nystagmus
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5/12. Topographical retinal function in oculocutaneous albinism.

    PURPOSE: Macular hypoplasia is the major ocular finding in albinism because it underlies reduced acuity and congenital nystagmus. Anatomic studies have shown a lack of foveal differentiation. However, functional anatomy of the macula in albinism is not known. DESIGN: Observational case reports. methods: We measured the topology of the retinal response in two patients with oculocutaneous albinism by using simultaneous fundus monitoring and multifocal electroretinographs (ERGs). Stimuli consisted of a 103-hexagon array centered on the macula. Recording conditions eliminated nystagmus artifact. RESULTS: ERG amplitudes were reduced only in the central 5 to 10 degrees compared with adult norms. When the response was scaled by stimulation area, multifocal ERG amplitudes were constant across all retinal eccentricities. CONCLUSIONS: The results suggest a homogeneous density of cone photoreceptors across the central retina in albinism, consistent with anatomic studies showing arrest of postnatal macular development. Further normative data are needed to fully quantify macular development in young children.
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ranking = 2
keywords = nystagmus
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6/12. A girl with Hermansky-Pudlak syndrome.

    A young girl with ocular albinism and the Hermansky-Pudlak syndrome is described. Ocular albinism generally occurs in males. In this condition, the pigmentation of the skin and hair is nearly normal, and the melanin pigment abnormality is limited to the eyeballs. The chief complaints are visual disturbance, nystagmus, and photophobia. A 3-year-old girl was recently brought to our hospital with nystagmus, which she had exhibited since the age of 1 year. Funduscopy resulted in a diagnosis of ocular albinism. Further investigations, specifically, microscopy of her platelets, led us to conclude that she had Hermansky-Pudlak syndrome.
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ranking = 2
keywords = nystagmus
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7/12. Variable expression of vision in sibs with albinism.

    Oculocutaneous albinism is defined by the presence of cutaneous and ocular hypopigmentation, the latter associated with nystagmus, iris transillumination, reduced retinal pigment, foveal hypoplasia, and misrouting of the optic fibers at the chiasm. The visual acuity is variable but almost always reduced. We report on two brothers with oculocutaneous albinism and markedly different visual acuity. One brother has a visual acuity of 20/100, while the second has similar cutaneous pigmentation and visual acuity of 20/20 and had not previously been recognized as having oculocutaneous albinism. Both brothers have foveal hypoplasia and misrouting of the optic fibers at the chiasm. Biochemical analysis suggests that this is a tyrosinase-related type of oculocutaneous albinism. This study demonstrates that careful observation of foveal development in relatives with normal vision is necessary to detect all individuals with albinism in a family. A suspected diagnosis of albinism may be confirmed when the visual-evoked potentials show excessive decussation of the optic fibers at the chiasm.
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ranking = 1
keywords = nystagmus
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8/12. Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism.

    The involuntary nystagmus movements of 16-year-old monozygotic twins with tyrosinase negative oculocutaneous albinism were examined. On primary gaze both girls exhibited bilateral conjugate horizontal nystagmus, a jerk with extended foveation waveform, and similar frequencies (2.0 Hz:1.9 Hz), although the fast phases were in opposite directions. The mean amplitudes differed markedly (6.8 degrees:3.7 degrees), as did the position of the null zones ( 20 degrees to 30 degrees:-25 degrees to -35 degrees) and the widths of the neutral zones (-25 degrees to 20 degrees:-25 degrees to -35 degrees). Since the twins have identical genotypes these differences must have arisen from other sources.
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ranking = 2
keywords = nystagmus
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9/12. Ophthalmic features of minimal pigment oculocutaneous albinism.

    PURPOSE: The purpose of this study is to describe the heterogeneous phenotype of individuals with an unusual type of albinism--minimal pigment oculocutaneous albinism. methods: Nine patients with minimal pigment oculocutaneous albinism were identified and followed for up to 11 years. The criteria were the presence of oculocutaneous albinism in association with low hairbulb tyrosinase activity in the patient and disparate activity in the parents with one parent having normal activity and the other having low tyrosinase activity. Changes in skin, hair, and ocular pigment were followed as the patients matured. As a measure of ocular pigment, iris transillumination and macular transparency were graded according to a previously published scheme. RESULTS: patients were born with white scalp hair and skin, and nystagmus developed. visual acuity was reduced to 20/50 to 20/200 for the group, but in one patient vision improved with maturity. Irides were blue. In seven patients, iris pigment developed, which was detected by transillumination with slit-lamp biomicroscopy, including the one patient with improved visual acuity. All patients had foveal hypoplasia, and melanin pigment in the fundi could not be detected by clinical examination. visual acuity in the group did not correlate directly with the presence or development of iris transillumination or macular transparency. The pedigrees were consistent with an autosomal recessive inheritance pattern. CONCLUSION: This unique type of oculocutaneous albinism has heterogeneous clinical features. Minimal pigment oculocutaneous albinism appears to represent a new type of tyrosinase-related oculocutaneous albinism (OCA1MP).
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ranking = 1
keywords = nystagmus
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10/12. Visual evoked response asymmetry only in the albino member of a family with congenital nystagmus.

    PURPOSE. To examine the purported relationship between visual fiber misrouting and congenital nystagmus (CN) by studying a family containing members with either hereditary CN alone or in conjunction with albinism. methods. Eight relatives in three generations of a family with two genetic disorders (congenital nystagmus [CN] and albinism) underwent complete ophthalmologic examination and visual evoked potential (VEP) assessment of visual pathway organization using a luminance flash and checkerboard pattern onset/offset stimulus paradigm. Age-matched controls patients (albino, CN, or normal) corresponding to the three affected family members underwent the same procedure. RESULTS. The standard VEP albino misrouting test did not reveal any signs of abnormality in all family members tested except for the clinically diagnosed 8-month-old albino proband patient. Visual evoked potential assessment from the albino patient evinced contralateral asymmetry characteristic of aberrant temporal retinostriate projections. CONCLUSIONS. Although CN and albinism share some of the same clinical symptoms, these findings indicate that the disorders may be inherited and manifested independently in members of one family. Furthermore, the functional and/or structural factors responsible for CN cannot be readily ascribed to VEP retinal-cortical misprojections recorded in albinism.
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ranking = 6
keywords = nystagmus
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