Mysterious maculopathy case study

[caption id="attachment_9441" align="alignright" width="1024"] Laura Kuehlewein[/caption] Dr Laura Kuehlewein, University Clinic Tübingen, Germany, presented a particularly challenging case during the Mystery Cases session of the first Young Retinal Specialists (YOURS) Day on Friday at the 17th Annual EURETINA conference. It’s fair to say that her case, entitled “Mysterious Maculopathy”, provided the audience with a true mystery, the diagnosis of which evaded everyone in attendance. It concerned a 54-year-old female with long-standing, bilaterally decreased visual acuity (20/200 in both eyes). She presented due to flicker scotomas upon awakening for the previous two months. She was hyperopic (+2.25) and had distorted pupils ODS. Fundus examination revealed extensive lesions resembling hard exudates, OS>OD, but there was no diabetes or arterial hypertension. There was hypoautofluorescence centrally and along the arcades ODS, and flourescein angiography showed early-phase, well demarcated hyperfluorescent lesions that did not increase in size in the later phases. The optic discs were normal. OCT displayed outer retinal atrophy ODS, with retinal pigment epithelial detachments, both large and small, OS>OD. Further questioning revealed similar symptoms in her sister. Genetic testing revealed a homozygotic BEST1 mutation. This led to the diagnosis of autosomal recessive bestrophinopathy. There was a silence in the auditorium, which likely made everyone feel better that no one else had thought of this diagnosis. After all, fewer than 20 such cases have been described worldwide. After a moment or two, a delegate stood up and asked, “How much time passed between initial presentation and final diagnosis?” “Years,” answered Dr Kuehlewein.