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Biomedical subjects

O Käfer

Publications and source records attributed to O Käfer.

At least 19 recordsLinked to original sources
PubMed1977

[Dominantly inherited cleavage of the pigment layer of the iris and the ciliary body (author's transl)].

A dominantly inherited cleavage of the pigment layer of the iris has been observed throughout three generations. In the two elder generations, luxation and rapidly progressing opacification of the lenses occurred; after cataract extraction, a cleavage of the pigment layer of the ciliary body could also be seen through the iridectomy. The lenses had reduced sagital and spherical diameters (4X7 mm). Furthermore, a peculiar form of glaucoma and a peripheral retinal detachment has been observed in the eldest generation.

Adolescent↗
PubMed1977

[Recurrent corneal edema without ocular hypertension, pigment degeneration combined with deafness, progressive dystrophy of the outer eye-muscles in a patient with proportional dwarfism and diabetes mellitus (author's transl)].

A 27-year-old woman has been suffering from recurrent corneal edema without ocular hypertension since her early childhood. When the cornea is clear, visual acuity-with correction for high myopia-is 5/10 to 5/15 and Nieden I; when the cornea is swollen, it decrease to 5/50 and 1/10, respectively, and Nieden VII. Furthermore, there is an atypical pigment degeneration of the retina combined with deafness, a progressive ptosis since her 10th year of life, and a progressive dystrophy of the outer eye muscles, having developed in the past few years. In addition, the mentally normal developed patient presents a proportional dwarfism (no dysostosis) and a diabetes mellitus. This combination of symptoms is compared with the well known Bardet-Biedl syndrome and the De Grouchy syndrome and is found to constitute a new syndrome.

Adult↗