Here’s an advanced case of Gyrate Atrophy (Orthinine Aminotransferase Deficiency).⁠
This 67yo woman has suprisingly stable symptoms of poor night vision (nyctalopia) and reduced peripheral visual field despite the diagnosis of Gyrate Atrophy. ⁠
Gyrate atrophy is an autosomal recessive condition caused by a deficiency in the enzyme Ornithine Aminotransferase (OAT), which plays a role in cellular detoxification. OAT deficiency results in raised ornithine concentrations (10-20x) in plasma, eventually leading to chorioretinal degeneration.⁠
⁠
Patients classically present in the first decade of life with nyctalopia, with retinal fundus exam demonstrating characteristic scalloped patches of chorioretinal atrophy scattered throughout the peripheral fundus. The patches eventually coalesce and advance posteriorly as the disease progresses towards the macula. Patients usually retain their central vision until their 5th decade. ⁠
Some patients (including this patient) respond well to Vitamin B6 and may have a better prognosis due to reduced levels of orthinine accumulation resulting in slower progression of vision loss. ⁠
Arginine restricted diets may also be helpful however compliance is often very difficult due to the restrictive nature of the diet. ⁠

retina #ophthalmology #vitreoretinalsurgery #eyedisease #retinasurgery #eyesurgery #ophthalmologist #eyedoctor #optometry #optometrist #optometrystudent #vitrectomy #retinaldetachment #macula #laser⁠ #optomap #medicalretina #medret #medretina #octa #oct ⁠ #retinopathy #maculopathy #maculardegeneration⁠ #goldcoast #goldcoasteyes #outlookeye #goldcoasteyesurgeon #goldcoastoptom