Abstract :
The aim of our articleis to report a case of Straatsma syndrome, a rare disease characterized by characteristic triad of axial myopia, unilateral myelinated retinal nerve fibres and amblyopia. The patients will be usually asymptomatic, however few cases may present with significant visual abnormalities, commonlyaxial myopia and amblyopia, constituting the Straatsma syndrome. We report a case of 13 year old boy who presented to us with this rare syndrome. A 13 year old boy presented with a history of decreased vision in right eye since childhood. On examination his BCVA in right eye was 6/24, N6, while left eye it was 6/6, N6. Cycloplegic refraction revealed refractive error of -6.50DS, -1.50DC at 168° in right eye. Fundoscopy was fundamental in diagnosing this case. Dilated fundus examination of right eye revealed blurred optic disc margin and presence of myelinated retinal nerve fiber layer along superior- temporal arcade and inferio- temporal arcade,contiguous with optic nerve head, more extensivesuperiorly. B scan report of right eye revealed vitreous detachment. Straatsma syndrome may be included in the differential diagnosis of leucokoria and can be suspected in patients presenting with refractive errors.Though the prognosis is poor to moderate, better results may be achieved with an early diagnosis and managing amblyopia. It can yield good results, despite high degree of anisometropia and low visual acuity.
Keyword :
Straatsma syndrome, Myelinated retinal nerve fibers (MRNF), Anisometropia, Amblyopia, High myopia.