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At least 37 records · Page 2Linked to original sources
PubMed1977

Oculocutaneous albinism associated with Apert's syndrome.

Five of nine patients with Apert's syndrome (acrocephalosyndactyly) showed an associated hypopigmentation of hair, skin, and eyes. The hair color of these five patients ranged from light brown to blond, the skin was pale, and the irides hazel or blue. Iris transillumination and hypopigmentation of the fundus were present and associated with absent or diffuse foveal reflexes. Unlike most forms of classic oculocutaneous albinism, however, there was good visual acuity and no pendular nystagmus. The evidence indicated that the lack of pigmentation associated with the characteristic skeletal anomalies of Apert's syndrome resulted from a disturbance of independent, genetically related, processes occurring at a common point in gestation.

Acrocephalosyndactylia↗
PubMed1979

Embryonic appearance of alpha, beta, and gamma crystallins in the periodic albinism (ap) mutant of Xenopus laevis.

The appearance of the crystallins during lens development in the periodic albinism (ap/ap) mutant of Xenopus laevis has been studied. Using antibodies specific for total crystallins, alpha + beta crystallins, and gamma crystallins in the immunofluorescence technique, the first positive reaction for all could be demonstrated in the Nieuwkoop-Faber Stage 31 lens rudiment. The antibody to alpha + beta crystallins exhibited differences in intensity from cell to cell in the early rudiment, while the reaction to the other antibodies was uniform throughout the rudiment. As lens differentiation progressed, immunofluorescence was restricted in all cases to the lens fiber area, up to and including Nieuwkas positive, however, for total lens crystallins. These results are at variance with earlier studies on lens development and the crystallins in wildtype (+/+) X. laevis, where a positive reaction for gamma and total crystallins could be detector total lens crystallins. That this divergence in the mutant is due to a pleiotropic effect or directly to the inductive failure of the endomesoderm to initiate melanogenesis, is discussed.

Albinism↗
PubMed1978

The perifoveal vasculature in albinism.

The perifoveal vasculature was studied in a series of patients with oculocutaneous tyrosinase-positive albinism. Fluorescein angiographic studies show a normal distribution of the major retinal blood vessels and in some cases of the capillaries in the macular area of these patients.

Adolescent↗
PubMed1978

Schizophrenia and albinism.

A female albino with squamous cell carcinoma and schizophrenia is reported. The association of schizophrenia and albinism is exceptionally rare; the observation that schizophrenia is characterised by hypermelanosis is questioned.

Adult↗
PubMed1978

Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation.

The visual disabilities of oculocutaneous albinism are discussed in the light of a series of 32 such patients seen in South-west Scotland between 1962 and 1978. Possible explanations for these defects are considered, with reference to an original series of light and electron microscopic sections from early embryos by Dr John Shaw-Dunn of the Department of Anatomy of Glasgow University which may afford clues to the relationship between the pigmentary and neurological aspects of the condition. Various forms of treatment which have been suggested are debated, and the author's own approach is described. Emphasis is laid on the social needs of the albino, and ways of meeting these are put forward.

Adolescent↗
PubMed1975

Albinism in Nigeria. A clinical and social study.

A study of 1000 Nigerian albinos, all of Negro stock, showed various types of albinism with their different modes of transmission--oculocutaneous, ocular and cutaneous. The much higher incidence among the more settled communities in the south, compared with the more nomadic communities in the north, may be related to greater inbreeding tendencies in the south. The sun and society are hostile to the albinos. Under the tropical sunshine, their melanin-deficient skin develops wrinkles, lentigines, actinic keratoses and epitheliomata from which they may die in early adult life or in middle age. Myopia and other ocular defects retard the progress of many albinos in school and they eventually drop out to seek disastrous menial outdoor occupations. Registering albinos early in life, assuring their families that albino defects are confined to the skin and eyes, advising on protective clothing and sun-screening agents, correcting myopia, assisting with indooor occupations, and early treatment of actinic keratoses and skin cancer should help many albinos to attain social acceptance and a ripe old age.

Adolescent↗
PubMed1975

[Xanthofibrogranulomatosis, pontine glioma, multiple nevocytic nevi and albinism (authors transl)].

A case of retroperitoneal fibrosis with ureter compression is reported. Clinical picture and course were determined by the presence of an additional tumor (astrospongoblastoma) of the pons. Extraretroperitoneal tissue changes found at post mortem examination were shown histologically to be foreign tissues of the same type deposited in the retroperitoneal space (disseminated xanthofibrogranuloma). Possible connections between the disseminated xanthofibrogranuloma, the pontine tumor and an albinism also present and multiple nevocytic nevi of the skin are discussed.

Adult↗
PubMed1978

[Degenerative ocular retinal albinism in a girl ten years old (author's transl)].

Ocular albinism with myopia and impaired vision (R.E. 0.2; L.E. 0.6), but without nystagmus, were observed in a 10-year-old girl. The electrophysiological tests indicate, in addition, the presence of a tapetoretinal degeneration. It is assumed that the patient is carrier of two genes, a sex-linked one responsible for albinismus solum fundi and a second one of autosomal-recessive type, responsible for the tapetoretinal degenerartion.

Albinism↗
PubMed1975

Albinism and auditory function in the laboratory mouse. I. Effects of single-gene substitutions on auditory physiology, audiogenic seizures, and developmental processes.

The effects of single-gene albino (c/c) mutations on auditory behavior and physiology were examined in congenic C57BL/6J mice. At 16 days of age, the c gene was additively associated with both reduced auditory functioning and lower body weight: 16-day-old c/c mice had higher auditory evoked potential (AEP) thresholds than +/c mice, which, in turn, had higher thresholds than +/+ mice; +/c mice were also intermediate with regard to body weight. Since these differences had nearly disappeared by 21 days of age, it was concluded that the c genes worked in an additive fashion to delay development during the period previously (Henry, 1967) found critical for inducing susceptibility to audiogenic seizures. At 16 days of age, albino mice (c/c) displayed susceptibility to audiogenic seizures, but nonalbino genotypes (+/c and +/+) were immune to the convulsive effects of sound. This behavior appeared to be a recessive trait at this age. But 5 days later, the behavioral phenotype exhibited incomplete dominance, with the +/c genotype displaying audiogenic seizures intermediate to those seen in the susceptible c/c and the nonsusceptible +/+ genotypes. These behaviors were compared to the thresholds and peak-to-peak amplitudes of the AEP, as seen in the input-output functions. It is suggested that differential development of the auditory systems in these genotypes is causally related to susceptibility to audiogenic seizures.

Acoustic Stimulation↗
PubMed1978

Relation of albinism and drugs to the visual evoked potential of the mouse.

The individual and combined influences of pentobarbital and chlorprothixene on the early components of the cortical visual evoked potential (VEP) were examined in the C57BL/6 mouse. Pentobarbital produced a large increase in latency, and chlorprothixene resulted in a smaller latency increase. When these agents were combined, their effects on the VEP latency were antagonistic. The effects of pentobarbital on VEP amplitude varied as a function of flash intensity, and this barbiturate anesthetic also produced qualitative VEP waveform changes. When the congenic albino (c/c) C57BL/6 was compared with the black (+/+) C57BL/6 mouse; pentobarbital anesthesia produced a decrease of latency with increasing stimulus intensity only in the c/c genotype, whereas VEP amplitudes were similarly affected by pentobarbital in both genotypes.

Albinism↗