Some notes on publications of Professor Arnold Sorsby and on Aland eye disease (Forsius-Eriksson syndrome).

Waardenburg, P. J.

doi:10.1136/jmg.7.3.194

Cited by 16 publications

(7 citation statements)

References 4 publications

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“…Although a significant reduction in the amplitude of the cone flicker responses was recorded in CSNB2 (mean 30 Hz flicker b wave amplitude, 11 p.V) using a comparable method,8 this is a less severe diminution in cone function than our results (mean 30 Hz flicker b wave amplitude, 5 pV) indicate. The near complete loss (but not absence) of oscillatory potentials observed on the subnormal b wave of the scotopic ERG from affected males in this family (fig 4) is of a very similar appearance to that published in the two earlier reports,23 as can be seen in fig 4. Rosenberg et aP interpret this as a 'preservation' of oscillatory potentials but all the oscillatory potentials illustrated appear to be markedly reduced to similar levels.…”

Section: Family Studycontrasting

confidence: 52%

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Glass

Good²,

Coleman³

et al. 1993

Journal of Medical Genetics

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Section: Family Studycontrasting

confidence: 52%

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Glass

Good²,

Coleman³

et al. 1993

Journal of Medical Genetics

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“…Affected males had reduced visual acuity, nystagmus, foveal hypoplasia, myopia, astigmatism, progressive red-green dyschromatopsia, defective dark adaptation, and iris and fundus hypopigmentation. Waardenburg (1970) pointed out that this disorder differed from fundus albinism, whereas Francois (1979) included Forsius and Eriksson's pedigree into the group of sex-linked albinism. McKusick (1988) ranks the Forsius-Eriksson syndrome as a separate type of ocular albinism (MIM #30060) beside the classical Nettleship-Falls type.…”

Section: Discussionmentioning

confidence: 99%

Åland Eye Disease (Forsius‐Eriksson‐Miyake syndrome) with probability established in a Danish family

Rosenberg

Schwartz

Simonsen

1990

Acta Ophthalmologica

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A reinvestigation of a Danish family with X-linked inherited congenital nystagmus through 6 generations revealed a congenital stationary retinal dysfunction syndrome with characteristics of both incomplete congenital stationary night blindness and Aland Eye Disease. In spite of rather uniform electrophysiological findings in our patients, this retinal disorder which affects both cones and rods demonstrated considerable intrafamilial diversity with respect to visual acuity, nystagmus, refractive state and fundus pigmentation.

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“…300600). 2 However, the demonstration of normal retinocortical projections by visual evoked potential recording definitely excluded the concept of AED being a type of ocular albinism. 3 A similar disorder was later categorized as incomplete congenital stationary night blindness (iCSNB) type 2A (OMIM No.…”

mentioning

confidence: 99%

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

Hove

Kilic-Biyik

Trotter

et al. 2016

Invest. Ophthalmol. Vis. Sci.

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PurposeTo assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB).MethodsA retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests, full-field electroretinography, and spectral-domain optical coherence tomography.ResultsOver the 34-year period, 74 individuals from 35 families were diagnosed with AED. Sixty individuals from 29 families participated in a follow-up study of whom 59 harbored a CACNA1F mutation and 1 harbored a CABP4 mutation. Among the subjects with a CACNA1F mutation, subnormal visual acuity was present in all, nystagmus was present in 63%, and foveal hypoplasia was observed in 25/43 subjects. Foveal pit volume was significantly reduced as compared to normal (P < 0.0001). Additionally, outer segment length at the fovea was measured in 46 subjects and found to be significantly reduced as compared to normal (P < 0.001). Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. The estimated mean birth prevalence rate was 1 per 22,000 live-born males.ConclusionsOur data support the viewpoint that AED, iCSNB, and X-linked cone–rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. We argue that the original designation AED should be used for this entity.

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Some notes on publications of Professor Arnold Sorsby and on Aland eye disease (Forsius-Eriksson syndrome).

Cited by 16 publications

References 4 publications

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Åland Eye Disease (Forsius‐Eriksson‐Miyake syndrome) with probability established in a Danish family

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

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