Cases reported "Albinism, Ocular"

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1/3. Dyschromatosis universalis with X-linked ocular albinism.

    A 10-year-old Chinese boy with the characteristic skin manifestations of dyschromatosis universalis is described. In addition, the patient had congenital nystagmus with poor visual acuity, and ophthalmological examination revealed foveal hypoplasia and albino-like fundi. Histopathology showed giant pigment granules in the skin. Based upon the finding of giant pigment granules in clinically normal skin of the patient's mother, the patient was diagnosed as a case of dyschromatosis universalis with X-linked ocular albinism. To the best of our knowledge, this is the first documented case of this combination.
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ranking = 1
keywords = nystagmus
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2/3. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.

    Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. pigmentation of the skin and hair is normal, but is usually slightly lighter than in unaffected sibs. We analysed 12 unrelated patients with AROA, and found that two had abnormalities of the tyrosinase (TYR) gene. These two patients were each a compound heterozygote for a different pathologic mutant allele and an allele containing a 'normal' polymorphism, Arg402Gln, which results in a tyrosinase polypeptide with reduced thermal stability. In these patients, AROA thus appears to represent a clinically mild form of OCA1, with a fixed visual deficit resulting from low tyrosinase activity during fetal development but with normal pigmentation of the skin and hair postnatally.
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ranking = 1
keywords = nystagmus
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3/3. Electronystagmographic investigation in X-linked ocular albinism.

    albinism represents the most frequent cause of nystagmus induced by visual sensory disorders. We studied five patients aged between three and five years with ocular albinism with the aim of identifying the characteristics of nystagmic oscillations. The patients underwent complete ophthalmological examination and electronystagmography (ENG). ENG revealed either pendular or jerk waveforms (or both) with the same complex effects of fixation seen in those with idiopathic congenital nystagmus. Three children presented face turn due to reduced severity of nystagmus in lateroversion. Latent nystagmus was not observed.
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ranking = 4
keywords = nystagmus
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