What I learned from Irene Hussels Maumenee

Irene Hussels Maumenee.

During my fellowship with Dr. Maumenee, I learned the framework for evaluating patients with inherited eye diseases that I have utilized throughout my entire career. One important feature of Dr. Maumenee’s exams was that she did every part of the exam on every patient. The youngest infants were held up to the real slit lamp, not a handheldversion, or the anterior segment was closely examined with an indirect ophthalmoscope and 20 diopter lens, focusing on the front of the eye instead of the back. In this way many subtle signs of anterior segment dysgenesis and other disorders were detected that would have been otherwise missed. One day our (very busy genetics) clinic was taking the emergency walk-ins. A young woman came in complaining of severe headache. I immediately looked at her nerves and saw papilledema, which I told Dr. Maumenee as I prepared to order an MRI. She told me to do the slit lamp exam first—and I saw Lisch nodules. Dr. Maumenee was not just going to treat the acute problem, she would look for the underlying diagnosis in every patient. I distinctly remember a day that Johns Hopkins was hosting a Marfan syndrome symposium. Dr. Maumenee and I saw more than 60 patients together that day and we did complete exams on all of them, including refracting those who were phakic through both the phakic and aphakic spaces to determine where their best vision was. Since then I have spared many patients lensectomy by correcting their aphakic space—because she had proved to me that it worked on that one day! She also arranged for me to spend a day in clinic with Victor McKusick in what must have been his final years of practice, which was wonderful. In addition to her careful, detail oriented examination of the eyes and in fact the whole patient, and her encyclopedic knowledge of syndromes and what features to look for in each, I also remember her beautiful, welcoming home and her sons. She somehow found the time to invite me to her home for dinner while I was a fellow, and in between the appetizers and dinner she was smoking a turkey in her turkey smoker to bring into clinic for the staff. She had an incredible garden that she tended lovingly—it was the first time I had ever seen the “bleeding heart” flower, which has remained one of my very favorite blossoms. Irene Hussels Maumenee is the mother of modern ophthalmic genetics, and we all owe her a debt of gratitude.

Declaration of interest

The author reports no conflicts of interest. The author alone is responsible for the content and writing of this article.