Hereditary Vitelline Macular Degeneration

Braley, Alson E.

doi:10.1001/archopht.1964.00970020743003

Cited by 26 publications

(6 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Inflammatory-like alterations (A1 -2) may probably represent early stages of hereditary macular degeneration (c.f. BRALEY and SPIVEY 1964). The onset in the maculae, however, more often takes the form of simple pigment dispersion (Bl).…”

Section: + O P H T H a L M O L O G I C A L L Y E X A M I N E D Q M S mentioning

confidence: 99%

“…Consequently, there is n o absolute correlation between colour blindness and hereditary macular degeneration. There are, however, many reports of such a connection ( BRALEY and SPIVEY 1964;KRILL et al 1966;FRASER and WALLACE 1971;WAARDENBURG et a!. 1963WAARDENBURG et a!.…”

Section: + O P H T H a L M O L O G I C A L L Y E X A M I N E D Q M S mentioning

confidence: 99%

“…The first one to report an obviously hereditary degeneration of the macula lutea, the central rodfree cone-bearing region of the retina, was BEST (1905), who presented a pedigree with eight cases in two generations among 59 examined individuals. Since then, several other pedigrees have been presented in both European and American literature; these are reviewed in surveys by WAARDENBURG et al (1963), BARKMAN (1961), FRANCOIS (1968FRANCOIS ( ,1971, BRALEY and SPIVEY (1964) and REMKY et al (1965).…”

mentioning

confidence: 99%

See 2 more Smart Citations

Hereditary macular degeneration-a population survey in the county of Västerbotten, Sweden

Nordström

2009

Hereditas

View full text Add to dashboard Cite

From a total of 21 probands, found mainly by a thorough study of case records at the department of Ophthalmology, the University Hospital, Umeå, a total of 95 cases of hereditary macular degeneration were traced by genealogical and clinical investigations in the county of Västerbotten, Sweden. 75 of the cases belong to the same family, with a total of 125 affected members, 65 men and 60 women. 23, however, were dead, and 27 had left the county when the survey was finished. The disease has been traced back to a settler who came from Dalecarlia, and he is probably related to a Dalecarlian family with hereditary macular degeneration described by Barkman in 1961. The family is presented in three pedigrees. The defect is inherited as an autosomal dominant trait with a very high but not complete penetrance and a very variable expressivity. Age of onset of the deterioration of sight varies from early childhood to more than 50 years. 20 of the 95 cases belong to some smaller, separate families with varying heredity, presented in nine pedigrees. Seven cases, representing all known patients with a condition resembling hereditary macular degeneration for which no heredity could be proved are also presented.

show abstract

Section: + O P H T H a L M O L O G I C A L L Y E X A M I N E D Q M S mentioning

confidence: 99%

Section: + O P H T H a L M O L O G I C A L L Y E X A M I N E D Q M S mentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Hereditary macular degeneration-a population survey in the county of Västerbotten, Sweden

Nordström

2009

Hereditas

View full text Add to dashboard Cite

show abstract

“…On the other hand, the maternal uncle (III,2), with an ophthalmoscopic appearance similar to early senile macular degeneration, admits to no visual disability. Since Best (I 905) described the first pedigree of congenital macular degeneration, many families have been reported (Best, 1905;Vossius, 1921;Weisel, 1922;Jung, 1936;Sorsby, I 940;Falls, I 949;Davis and Hollenhorst, 1955;FranSois, I 96 I ;Grimm and Tedford, I 963;Braley and Spivey, I 964; Francois, I 971), the majority having autosomal dominant inheritance (McKusick,197I). In the family described by Best (I905), eight of 59 members examined had macular degeneration.…”

Section: Discussionmentioning

confidence: 99%

Hereditary macular degeneration in three generations.

Johnston¹,

Darragh²,

Nevin³

1973

British Journal of Ophthalmology

View full text Add to dashboard Cite

Hereditary macular degeneration has a multifarious ophthalmoscopic appearance but is usually characterized by a sharply-defined, dense, homogenous, avascular disc resembling the intact yolk of a fried egg (Sorsby, I940; Fransois, I96I; Braley, I966). The appearance of the macula, however, may range from mild pigmentary degeneration to dense scarring with pigmentary hyperplasia. The clinical course of the macular lesion, the degree of visual impairment, and the age at onset of ocular symptoms also vary within and between families (Sorsby, 1940; Grimm and Tedford, I 963; Braley and Spivey, I 964). In spite of the polymorphism of the macular lesion, probably all forms of macular degeneration represent the same fundamental degenerative process (Berkley and Bussey, 1949; Fran~ois, 196I; McKusick, I971). This paper describes a family in which eight members in three generations have macular degeneration; two affected brothers also have alopecia congenita, one in addition has coarctation of the aorta, and their mother, who has macular degeneration, also has congenital aortic stenosis.

show abstract

“…Many of these patients are still so young that deterioration of the visual acuity has not yet begun, in spite of the fact that they may suffer from the disease. The age of onset varies from a few years to over 30 years of age (Barkman 1961, Braley & Spivey 1964. Patients with an anamnestic deterioration of sight have probably had a macular degeneration.…”

mentioning

confidence: 99%

A GENETIC STUDY OF CONGENITAL HEREDITARY MACULAR DEGENERATION IN THE COUNTY OF VäSTERBOTTEN, SWEDEN

Nordström

Holmgren

Thorburn

1972

Acta Ophthalmologica

View full text Add to dashboard Cite

Two pedigrees of two separate families are presented. In one of them, hereditary macular degeneration was confirmed in 24 out of 43 cases examined ophthalmologically. They belonged to 3 generations. By means of the parish catechetical meeting examination records, it has ‐ to a rather high degree of accuracy ‐ been possible to follow the disease back another 4 generations to the 18th century. In the other family, there were 6 patients with congenital macular degeneration. It was only possible to follow the disease in 5 generations because of illegitimacy. The mode of inheritance in both families is autosomal dominant with high penetrance and varied expressivity.

show abstract

Hereditary Vitelline Macular Degeneration

Cited by 26 publications

References 7 publications

Hereditary macular degeneration-a population survey in the county of Västerbotten, Sweden

Hereditary macular degeneration-a population survey in the county of Västerbotten, Sweden

Hereditary macular degeneration in three generations.

A GENETIC STUDY OF CONGENITAL HEREDITARY MACULAR DEGENERATION IN THE COUNTY OF VäSTERBOTTEN, SWEDEN

Contact Info

Product

Resources

About