• 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


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


Genead MA, Fishman GA. Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with retinitis pigmentosa and usher syndrome. Arch Ophthalmol 2010;128(9):1146–50.

Jack J Kanski and Brad Bowling, Clinical Ophthalmology ,7th ed. Edinburg, London Elsevier Saunders; c 2011 .Chapter 21, Hereditary Macular disorders ; p. 655. Please correct

Alzuhairy SA, Alfawaz A. Nongranulomatous anterior uveitis in a patient with Usher syndrome. Saudi J Ophthalmol 2013;27(4):295–8.

Phillips CL. Hereditary Macular coloboma. J Med Genet 1970;7(3):224–6.

Oh JY, Yu YS, Hwang JM, Park KH. Optical coherence tomographic finding in a case of macular coloboma. Korean J Ophthalmol 2007;21(3):175–7.

Miller SA, Bresnick G. Familial bilateral macular colobomata. Br J Ophthalmol 1978;62(4):261–4.

Satorre J, Lopez JM, Martinez J, Pinera P. Dominant macular coloboma. J Pediatr Ophthalmol Strabismus 1990;27(3):148–52.

Margolis S, Scher BM, Carr RE. Macular colobomas inLeber’s congenital amaurosis. Am J Ophthalmol 1977;83(1):27–31.

Murayama K, Adachi-Usami E. Bilateral macular colobomas in Leber’s congenital amaurosis. Doc Ophthalmol 1989;72(2):181–8.

Funada M, Okamoto I, Hayasaka S. Bilateral macular coloboma associated with progressive atrophy of the peripheral retina. Ophthalmologica 1989;198:8–12.

Jime´nez-Sierra JM, Ogden TE. Abnormalities of photoreceptors. In: Jime´nez-Sierra JM, Ogden TE, Van Boemel GB (eds). Inherited Retinal Diseases: A DiagnosticGuide. Mosby Company Inc.: St Louis, MO, 1989, pp 175–195.

American Academy of Ophthalmology, Retinal degeneration associated with systemic disease, vol. 12, 2008–2009.

Kremer H, van Wijk E, Marker T, Wolfrum U, Roepman R. Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet 2006;15(Spec No. 2):R262–70.

Vozzi D, Aaspollu A, Athanasakis E, Berto A, Fabretto A, Licastro D, et al. Molecular e pidemiology of Usher syndrome of Usher syndrome in Italy. Mol Vis 2011;17:1662–8.

Keywords: Retinitis pigmentosa, Usher syndrome, Macular coloboma