Bilateral macular dysplasia ('colobomata') and congenital 'retinal dystrophy

Abstract

Three unrelated patients with bilateral macular dysplasia ('colobomata') with no relevant family history were found to have- absent or substantially abnormal electroretinograms, implying that there was an associated retinal ystrophy. This may suggest that the macular lesions are associated with a global failure of retinal development, with a regional preponderance rather than a purely localised cause such as an intrauterine infection. It is important to distinguish between congenital infections such as toxoplasmosis and developmental macular colobomata, which have a somewhat similar ophthalmoscopic appearance as a cause of bilateral macular abnormalities seen in young children, since they have different implications for genetic advice and future ophthalmic care.