Ocular Albinism in a Female

Scialfa, A

doi:10.1016/0002-9394(72)90464-3

Cited by 11 publications

(5 citation statements)

References 17 publications

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“…We feel supported in our finding, that normally pigmented people can in fact be albinos, by several papers describing girls with only ocular involvement (Scialfia 1972, Waardenburg 1970) and patients with non-detectable hypopigmentation of skin, hair, and eyes and non-detectable iris transclucency (O'Donnell et al 1978, Siege1 1979, Simon et al 1984, Wirtschafter et al 1973).…”

Section: Diagnosissupporting

confidence: 69%

Albinism, or the NOACH syndrome

Dorp

1987

Clinical Genetics

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After a 4‐year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were examined, together with their heterozygote family members. Given this substantial patient and subject sample we were provided with the opportunity to: evaluate the results of standard diagnostic procedures, for example pedigree analysis, ocular and clinical examination; determine the diagnostic value of biochemical, and ultrastructural tests; and develop a new and viable albino diagnostic protocol, particularly for electrophysiological examination. In the conclusions the following subjects are in order: Diagnosis: Our most important finding up till now is that normally pigmented people who do not look like albinos can in fact be albinos. Differential diagnosis: It appears that patients with autosomal recessive albinism can be normally pigmented, and patients with X‐linked albinism can be severely hypopigmented. We therefore propose to abandon the terms oculo‐cutaneous albinism (OCA), and X‐linked ocular albinism (XOA), and use the terms autosomal recessive albinism, and X‐linked albinism instead. X‐linked albinism Forsius‐Eriksson type (XOAF): We assume that XOAF does not represent a true form of albinism. Classification: Our results indicate that the phenotypical albino classification, which was a base for Witkop et al. (1978) to also obtain a genetical classification, supported by the hairbulb test, has not proved to be useful for the classification of tyrosinase negative (TNOCA), tyrosinase positive oculocutaneous albinism (TPOCA), and autosomal recessive ocular albinism (AROA) as genetically distinct forms. Prevalence: Our prevalence estimate for all forms of albinism is at least 1:15,000, about 10% of the albinos have X‐linked albinism. Definition: We want to modify the albino definition as a hereditary and congenital inborn error of metabolism related to the pigment cell, and resulting in a systemic disorder that is characterized by anomalies of eyes, and hypopigmentation in most cases or absence of pigment in skin, hair, and eyes, and of which the neuro‐anatomical consequences are the most characteristic.

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Section: Diagnosissupporting

confidence: 69%

Albinism, or the NOACH syndrome

Dorp

1987

Clinical Genetics

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“…1 Another form of ocular albinism that is common among inhabitants of the Aland Islands in the Gulf of Both¬ nia has been described as an X-linked inherited trait by Forsius There has been at least one report of ocular albinism affecting a Cauca¬ sian female in a family without a history of the disorder. 9 The author suggested that this sporadic case might represent a severely affected carrier of XOA, since, theoretically, an occasional heterozygous female could demonstrate the trait nearly as severely as hemizygous males'" " be¬ cause of lyonization. Alternatively, autosomal inheritance could not be excluded.…”

mentioning

confidence: 99%

Autosomal Recessively Inherited Ocular Albinism

O'Donnell¹,

King²,

Green³

et al. 1978

Arch Ophthalmol

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“…This patient (VI-35) is an affected member of the original &and eye disease family (for pedigree see Forsius & Eriksson 1964). As several authors have classified this syndrome as one of the forms of ocular albinism (Scialfa 1967, 1972, 0,Donnell et al 1976, 1978, we proceeded to verify this hypothesis. Our patient however, was not an ocular albino, because he did not show macular and foveal hypoplasia, characteristics of albinism.…”

Section: Discussionmentioning

confidence: 81%

Åland eye disease: no albino misrouting

et al. 1985

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Electrophysiological studies showed that a patient with Åland eye disease had no misrouting of the optic pathways which is always found in all forms of albinism as a consequence of the retinogeniculate anomaly. Also the spontaneous and optokinetic nystagmus did not resemble that of the large majority of human albinos. The marked asymmetry found in this patient seems to be typical for humans with a defective development of foveal binocular vision. These findings are in agreement with clinical, nystagmographic and EM findings that Åland eye disease is distinct from the Nettleship‐Falls type of X–linked ocular albinism. Furthermore, Åland eye disease is different from X‐chromosomal congenital stationary night blindness with myopia by the fact that the scotopic functions are only moderately affected and there is no restriction of the peripheral photopic visual fields. In addition, there is latent nystagmus of extraocular type that appears also in female carriers. There is no ophthalmoplegia, there is a progression of the myopia and the dyschromatopsia is of secondary type.

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Ocular Albinism in a Female

Cited by 11 publications

References 17 publications

Albinism, or the NOACH syndrome

Albinism, or the NOACH syndrome

Autosomal Recessively Inherited Ocular Albinism

Åland eye disease: no albino misrouting

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