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  • Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration

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Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration
  1. S V Goverdhan1,2,
  2. I K Temple1,
  3. J Self1,2,
  4. A J Lotery1,2,
  5. M J Dixon3,
  6. A R Evans4
  1. 1Human Genetics Division, University of Southampton, UK
  2. 2Southampton Eye Unit, Southampton University Hospitals, Southampton, UK
  3. 3School of Biological Sciences, University of Manchester, UK
  4. 4Eye Unit, Queen Alexandra Hospital, Portsmouth, UK
  1. Correspondence to: Professor Andrew Lotery The University of Southampton, Southampton Eye Unit, Mailpoint 104, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK; a.j.loterysoton.ac.uk

https://doi.org/10.1136/bjo.2004.064139

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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).

    Case report

    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 …

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