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Treacher Collins syndrome with microcornea and retinal detachment
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  1. Abijith Holla1,
  2. Sarita R J Gonsalves2,
  3. Geover Joslen Lobo3
  1. 1Department of Ophthalmology, Sagarmatha Choudry Eye Hospital, Lahan, Nepal
  2. 2Department of Ophthalmology, Kasturba Medical College, Manipal, Karnataka, India
  3. 3Department of Neurosurgery, Kasturba Medical College, Udupi, Karnataka, India
  1. Correspondence to Dr Sarita RJ Gonsalves, gonsalvessarita{at}gmail.com

https://doi.org/10.1136/bcr-2013-202425

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    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.

    Figure 1
    Figure 1

    Treacher Collin syndrome in an adult showing facial dysmorphism and lid abnormalities.

    Figure 2
    Figure 2

    Surgically corrected malformed pinna.

    Figure 3
    Figure 3

    Showing downslanting palpebral fissure and coloboma of both lids with microcornea.

    Figure 4
    Figure 4

    Anterior segment photograph showing microcornea and Bitot's spots.

    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, microtia.1 ,2 The association with microcornea and RD is rare and hence the case report.

    Figure 5
    Figure 5

    B-SCAN showing retinal detachment with cysts in the left eye.

    Learning points

    • Craniofacial anomalies and fusion defects are a part of the syndromic associations of Treacher Collins syndrome. However only few cases with microcornea and retinal detachment have been reported so far.

    • Management of Treacher Collin syndrome requires a multidisciplinary approach.

    References

    1. ↵
      1. Trainor PA,
      2. Dixon J,
      3. Dixon MJ
      . Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009;17:275–83.
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    2. ↵
      1. Shete P,
      2. Tupkari JV,
      3. Benjamin T,
      4. et al
      . Treacher Collins syndrome. J Oral Maxillofac Pathol 2011;15:348–51.
      OpenUrlCrossRefPubMed
    View Abstract

    Footnotes

    • Contributors AH was involved in the collection of data. SRJG was involved in the drafting and formulation of the draft. GJL was involved in organising the data. All authors were involved in the final approval of the draft.

    • Competing interests None.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.