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.
Futterweit W, Ritch R, Teekhasaenee C, Nelson ES. Coexistence of Prader-Willi Syndrome, Congenital Ectropion Uveae With Glaucoma, and Factor XI Deficiency. JAMA. 1986;255(23):3280-3282. doi:10.1001/jama.1986.03370230086037