First Author: A.Deleva BULGARIA
Co Author(s): B. Irinkova
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To describe a clinical case of bilateral macular dysplasia (atypical macular coloboma) Key words: macular coloboma, macular dysplasia, atypical macular coloboma, congenital maculopathy, macular chorioretinal scar
A 53 old woman was presented with bilateral macular retinochoroidal lesions , low visual acuity in both eyes since infancy , a clear family history of an eye condition or disease , no data for maternal infection during pregnancy only her mother had experienced lightning strike during fort month of pregnancy. The patient was submitted to complete ophthalmological evaluation, fluorescein angiography (FA), autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT), echography (B-scan), MRT, perimetry exams.
Lifelong low BCVA, with a course of a slow deterioration to 20/200 in right eye (RE) end 2/200 in left eye (LE) at the moment of examination. Anterior segment showed no pathology. Fundus examination revealed a macular chorio-retinal scar in both eyes. FAF and FA displayed oval hypo fluorescent lesion in both maculae (larger in left eye), surrounded by hyper fluorescent borders and hyperpigmentation. Large choroidal vessels were exposed over it. OCT and B-scan showed a lack of choroidal tissue. Automated perimetry showed reduced light sensitivity corresponding to the lesion’s location. In MRT an oval “cystic” lesions behind the bulb was found. Patient did not exhibit neither nystagmus nor other neurological symptoms or systemic disorders.
This finding was suggestive to be a scar after congenital chorioretinal inflammation (e.g. toxoplasmosis or varicella).The negative serology made the diagnosis macular coloboma more probable. Macular coloboma is more likely to be presented with a lack of choroidal tissue rather than an old inflammatory chorioretinal scar. However, the localisation is not typical for macular coloboma, which is usually situated inferonasaly. Most probably this anomaly is associated with a failure of retinal development. Differentiation between intrauterine inflammation and macular coloboma, which to some extend have a similar fundus appearance, is important when it comes to genetic advice.