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Walter Futterweit, MD; Robert Ritch, MD; Chaiwat Teekhasaenee, MD; Elliot S. Nelson, MD

JAMA. 1986;255(23):3280-3282.

Abstract
A patient with Prader-Willi syndrome and unilateral congenital ectropion uveae with glaucoma was found to have factor XI deficiency and reduced levels of serum luteinizing hormone, follicle-stimulating hormone, and testosterone. Administration of gonadorelin (LH-RH) increased serum levels of luteinizing hormone and follicle-stimulating hormone, while clomiphene citrate had no effect, suggesting a primary hypothalamic defect. Patients with congenital ectropion uveae should be followed up for the development of both glaucoma and neural crest disorders.

(JAMA 1986;255:3280-3282)

Author Affiliations
From the Division of Endocrinology, The Mount Sinai School of Medicine (Dr Futterweit); the Department of Ophthalmology, The New York Eye and Ear Infirmary (Drs Ritch and Teekhasaenee); and the Department of Ophthalmology, Maimonides Medical Center (Dr Nelson), New York.

Footnotes
Presented in part at the Ophthalmic Genetics Study Club, American Academy of Ophthalmology, Atlanta, Nov 10, 1984.

Reprint requests to Division of Endocrinology, Annenberg 23-60, Mount Sinai School of the City University of New York, 1 Gustave Levy PI, New York, NY 10029 (Dr Futterweit).

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