ABSTRACT
Triple A Syndrome is an autosomal recessive entity involving multiple systems usually characterized by adrenal insufficiency, alacrimia and achalasia. The disease features include variable degrees of neurological and neuro-ophthalmic manifestations. Protein ALADIN encoded by the AAAS gene is found to be defective in Triple A Syndrome. Here we discuss a case series of five patients diagnosed as Triple A Syndrome. Clinically there was variable degree of optic atrophy in all the cases, which was further confirmed with spectral domain Optical Coherence Tomography The aim of this study was to publish the OCT based ONFL graphs of these unique cases, so that being an ophthalmologist we can take a multidisciplinary approach and decisions accordingly.
ABSTRACT
A young male presented with complaints of disturbance of vision and floaters for the past five years with best corrected visual acuity of 6/6 in both eyes. Ophthalmic examination of the anterior segment was normal in both eyes. There was a relative afferent papillary defect in the right eye. Fundoscopic examination of the left eye showed a raised, 3-disc diameter (DD) dark brown lesion arising from the optic disc. Ophthalmic investigations were performed including fundus photos, A-scan, B-scan, Auto-fluorescence, OCT, and FFA. Findings were consistent with those of optic disc melanocytoma. The patient is now kept on close three-monthly follow-up. To the best of our knowledge, there are no published reports from Pakistan so far.
