Treacher Collins syndrome with microcornea and retinal detachment.

To cite: Holla A, Gonsalves SRJ, Lobo GJ. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-202425 DESCRIPTION A 15-year-old girl was referred to our ophthalmology unit for poor vision in the left eye. She was a diagnosed case of Treacher Collin syndrome (figure 1) and was surgically treated for microtia of the left ear (figure 2). On referral she reported of progressive loss of vision in the left eye for 8 years, no history of trauma, redness, pain or ophthalmic surgical intervention. On examination of the right eye her visual acuity was 6/6. There was antimongoloid slant, lower lid coloboma with deficient cilia medial to coloboma (figure 3). Conjunctiva showed Bitot’s spots (figure 4), the rest of the anterior segment and fundus was normal. The intraocular pressure was 16 mm Hg. In the left eye, the patient had only perception of light. Projection of rays was inaccurate in all quadrants. Antimongoloid slant, lower lid coloboma with deficient cilia medial to coloboma was present. Anterior segment evaluation: conjunctiva showed Bitot’s spots, horizontal corneal diameter of 9 mm, non-reacting pupil, cataractous lens. Examination of the fundus was not possible due to media opacity. Intraocular pressure was 8 mm Hg. B-SCAN of the left eye showed retinal detachment (RD) with subretinal cysts (figures 5). Axial length of the left eye was 20.5 mm as calculated by vector A-SCAN. The patient was advised surgical intervention for RD under guarded visual prognosis, she was not willing for the same hence it was deferred. The common features of Treacher Collin syndrome are craniofacial mal-development, antimongoloid slant of the eyes, micrognathia,