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Treacher Collins syndrome (TCS) results from defects in a nucleolar trafficking protein (Treacle) coded for by the TCOF1 gene.1 The purpose of this report is, firstly, to describe an isolated male with TCS associated with macular degeneration who also had a novel TCOF1 gene mutation and, secondly, to evaluate this mutation in a well characterised cohort of 95 patients with age related macular degeneration (AMD).
A 44 year old man presented with a 1 month history of metamorphopsia. He had minimal dysmorphic features but was noted to have an antimongoloid slant of the palpebral fissures with mild flattening of the midface. Sensorineural deafness had been diagnosed from childhood but the external ears were normal in appearance. Best corrected visual acuity was 6/9 (−2.25 DS) right eye and 6/24 (−1.50 DS) left eye. Ocular examination revealed bilateral posterior embryotoxon with adhesions between iris and Schwalbe’s line, and iris hypoplasia. No eyelid colobomata were present. Posterior segment examination (fig 1) revealed atrophic macular degeneration in both eyes and a choroidal neovascular membrane (CNV) in the …