Congenital Encephalo-Ophthalmic Dysplasia

Krause, Arlington C.

doi:10.1001/archopht.1946.00890210395001

Cited by 118 publications

(18 citation statements)

References 16 publications

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“…Such an association was also suggested by the term congenital encephaloophthalmic dysplasia (Krause, 1946). The condition has been reported in mentally retarded persons (Gartner, 1947;Esterman, 1949;Babel, 1966).…”

Section: Clinical Picturementioning

confidence: 80%

Retinal dysplasia

1981

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Retinal dysplasia is defined as an abnormal growth and differentiation of embryonic retina being more a secondary lesion rather than a disease. Clinically, the disorder may present itself in a surprisingly wide range of severity or of degree from retinal folds to vascularized masses in the vitreous cavity. The condition may appear monosymptomatically, involving only the eye, or as complex disorders with multisystemic anomalies. The histopathologic findings in this disorder recognize characteristic structural deviations of the retina and the pathogenesis seems to be related to the lack of the normal histogenesis of the pigment epithelium. Impaired genetic mechanisms seem to contribute to the etiology of some forms of retinal dysplasia.

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Section: Clinical Picturementioning

confidence: 80%

Retinal dysplasia

1981

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“…In our two cases described here, the absence of cerebral agenesis, pulmonary stenosis and patent ductus, cleft palate, polydactylyisyndactyly, polycystic kidneys and pancreatic cystic fibrosis probably but not absolutely necessarily excludes "retinal dysplasia" described by Reese & Blodi (1950) and Reese 8s Straatsma (1958). See also Krause (1946). Since many of the cases described by Reese & Straatsma probably would now be diagnosed as Bartholin-Patau syndrome (Hunter & Zimmerman 1965), retinal dysplasia may not be a clinical entity.…”

Section: Differential Diagnosismentioning

confidence: 99%

Congenital Hereditary Bilateral Non‐attachment of Retina

Phillips

Leighton

Forrester

1973

Acta Ophthalmologica

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A brother and sister, the only two children of non-consanguineous parents, have bilateral microphthalmos, degenerative corneal opacities, shallow anterior chambers, and in the anterior vitreous white masses like cotton wool with some large blood vessels. Excision of the mass from the vitreous cavity of one eye showed surprisingly normally developed detached retina round a core of fibrous condensed vitreous. Otherwise the children are normal and have the normal male and female karyotype.A very similar sibship has been reported by Franceschetti (1956) -a brother and sister, children of first cousins, being affected; the consanguinity of these parents supports our suggestion that a recessive inheritance explains the abnormalities in our cases. No evidence of heredity exists in the similar case described by Magnus (1927) or in the group of possibly similar cases of "retinal dysplasia" without systemic involvement described by Reese & Straatsma (1958), but our cases may well belong to the same category; also, our cases may represent examples of an extreme form of "falciform retinal folds".

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“…This would not seem to be the case with blindness due to retrolental fibroplasia, despite the fact that there have been some reports15 to this effect. This study does not include enough cases to conclude anything regarding the frequency of normal development among in¬ fants blind due to retrolental fibroplasia.…”

mentioning

confidence: 92%

The Developmental Evaluation of the Blind Premature Infant

Parmelee¹

1955

Arch Pediatr Adolesc Med

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Congenital Encephalo-Ophthalmic Dysplasia

Cited by 118 publications

References 16 publications

Retinal dysplasia

Retinal dysplasia

Congenital Hereditary Bilateral Non‐attachment of Retina

The Developmental Evaluation of the Blind Premature Infant

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