MACULAR COLOBOMA – IN A CHILD WITH USHER SYNDROME

Authors

  • Mazhar Ishaq Armed Forces Institute of Ophthalmology, Military Hospital, Rawalpindi
  • Ahsan Mukhtar Armed Forces Institute of Ophthalmology, Military Hospital, Rawalpindi
  • Saim Khan Armed Forces Institute of Ophthalmology, Military Hospital, Rawalpindi

Abstract

Macular coloboma is a rare entity and its concomitance with Usher syndrome is described here. A 14 years male child was studied in detail along with other family members. He underwent two complete ophthalmologic examinations (4-years follow-up), including visual assessment, orthoptic evaluation, colour vision test, visual fields, corneal topography, Optical coherence tomography, fluorescein angiography, and electroretinography. Detailed ophthalmic examination was also conducted on other asymptomatic members of the same family. Patient had sensorineural deafness, poor visual acuity, and progressive visual field impairment in both eyes, bilaterally presenting macular coloboma and atypical retinitis pigmentosa pattern. The other investigated relatives did not show any specific and/or significant ocular disorder. This concurrence represents no genetic pattern and is observed in sporadic cases.Keywords: Retinitis pigmentosa, Usher syndrome, Macular coloboma

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Keywords: Retinitis pigmentosa, Usher syndrome, Macular coloboma

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Published

2015-06-20

Issue

Vol. 27 No. 2 (2015): Journal of Ayub Medical College, Abbottabad

Section

CASE REPORT

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