[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.
D000328:Adult; D001763:Blepharoptosis / Q000150:complications; D003315:Cornea; D003638:Deafness / Q000150:complications* / Q000175:diagnosis; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000175:diagnosis; D004392:Dwarfism / Q000150:complications* / Q000175:diagnosis; D004487:Edema / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007429:Intraocular Pressure; D009136:Muscular Dystrophies / Q000150:complications; D009216:Myopia / Q000150:complications; D009801:Oculomotor Muscles; D012008:Recurrence; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis; D013577:Syndrome
Rezidivierende Hornhautödeme ohne Augeninnendrucksteigerung, tapetoretinale Degeneration mit Innenohrschwerhörigkeit, progressive äussere  okuläre Muskeldystrophie bei proportioniertem Minderwuchs und Diabetes mellitus