Forsius‐Eriksson syndrome: Its relation to the Nettleship‐Falls X‐linked ocular albinism

O'Donnell, Francis E.; Green, W. R.; McKusick, Victor A.; Forsius, Henrik; Eriksson, Anna

doi:10.1111/j.1399-0004.1980.tb00170.x

Cited by 31 publications

(4 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, color vision testing was not performed considering the young age of the patients. Alternatively, ERG was conducted, and it tends to have a negative b-wave in scotopic ERG which is not consistent with the findings encountered in our patient's ERG [10][11][12]. On the other hand, the GPR143 mutations that are believed to be causing the Nettleship-Falls ocular albinism (known as ocular albinism 1) phenotypically can present with normalcolored iris as reported by Charles et al [13,14].…”

Section: Discussioncontrasting

confidence: 68%

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Alarfaj,

Alhashim,

Alotaibi

et al. 2024

Cureus

View full text Add to dashboard Cite

Foveal hypoplasia is a retinal disorder characterized by the anatomic absence of the foveal pit. It might be isolated or associated with poor vision and several conditions such as albinism, aniridia, microphthalmos, congenital nystagmus, or other diseases. Genetic and non-genetic causes can play a role in foveal pit development. However, the exact mechanism that causes foveal pit absence has not been determined. This study reports a five-year-old boy who presented to the eye clinic with bilateral poor vision since birth. Optical coherence tomography (OCT) was performed and confirmed the absence of the foveal pit in both eyes. Diagnosis of foveal hypoplasia was made. The parents reported a positive family history of similar conditions, specifically, a paternal grandfather, a male paternal cousin, and a brother. To the best of our knowledge, this is the first reported case of foveal hypoplasia, with a positive family history in the male gender specifically. Thus, inheritance is presumed to be X-linked recessive. We acknowledge that further investigation by genetic testing would offer further insight into this case.

show abstract

Section: Discussioncontrasting

confidence: 68%

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Alarfaj,

Alhashim,

Alotaibi

et al. 2024

Cureus

View full text Add to dashboard Cite

show abstract

“…It is characterized by a typical carrier fundus picture, and based on pedigree analysis, and confirmed by skin biopsy, showing the presence of macromelanosomes. The other forms have been described by Forsius & Eriksson (1964) (XOAF) (O'Donnell et al 1980). These patients are reported to show fundus albinism, and, in addition, nystagmus, nyctalopia, astigmatism, myopia, and acquired color blindness; the affection is progressive.…”

mentioning

confidence: 88%

Albinism, or the NOACH syndrome

Dorp

1987

Clinical Genetics

View full text Add to dashboard Cite

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.

show abstract

“…There are no ultrastructural abnormalities in the melanosomes of skin biopsies of patients with &and eye disease which is thus distinct from X-linked ocular albinism of the Nettleship-Falls type (O'Donnell et al 1980). Also nystagmographic studies (van Vliet et al 1973) indicate that &and eye disease is entirely distinct from X-linked ocular albinism.…”

mentioning

confidence: 91%

Åland eye disease: no albino misrouting

et al. 1985

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Forsius‐Eriksson syndrome: Its relation to the Nettleship‐Falls X‐linked ocular albinism

Cited by 31 publications

References 14 publications

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Albinism, or the NOACH syndrome

Åland eye disease: no albino misrouting

Contact Info

Product

Resources

About