Literature DB >> 6806523

[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].

U Mayer, K P Grosse.   

Abstract

Systematic examination of four children suffering from arteriohepatic dysplasia and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, microphthalmos, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve. The parents of the children presented with minor symptoms such as dysplasia iridis, arcus lipoides and hyperlipemic vascular signs in the retina. Differential diagnostic considerations suggest a hereditary disease, the pathogenesis of which is not completely clear.

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Year:  1982        PMID: 6806523     DOI: 10.1055/s-2008-1055069

Source DB:  PubMed          Journal:  Klin Monbl Augenheilkd        ISSN: 0023-2165            Impact factor:   0.700


  2 in total

1.  Electrophysiological findings in a family with congenital arteriohepatic dysplasia (Alagille syndrome).

Authors:  T Tanino; A Ishihara; K Naganuma; T Nakahata
Journal:  Doc Ophthalmol       Date:  1986-06-16       Impact factor: 2.379

2.  Inferior ectopic pupil and typical ocular coloboma in RCS rats.

Authors:  Naho Tsuji; Kiyokazu Ozaki; Isao Narama; Tetsuro Matsuura
Journal:  Comp Med       Date:  2011-08       Impact factor: 0.982

  2 in total

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