1.
Infantile Refsum disease in a young adult: case presentation and brief review.
Pakzad-Vaezi, KL, Maberley, DA
Retinal cases & brief reports. 2014;(1):56-9
Abstract
PURPOSE To review and describe findings, pathophysiology, and management of infantile Refsum disease in a young adult, and to compare with those of classic Refsum Disease. METHODS Retrospective chart and digital photography review. RESULTS A 25-year-old woman with a diagnosis of infantile Refsum disease presented with progressively decreasing vision. Findings included a noncorpuscular pigmentary degeneration of both fundi, optic nerve head drusen, attenuated retinal vasculature, cataract, myopia, and esotropia. She was treated with a low phytanic acid diet, resulting in improved metabolic values on laboratory testing. CONCLUSION Infantile Refsum disease has clinical features and a pathophysiology distinct from classic Refsum disease, despite occasionally presenting for examination later in life. Ophthalmic and systemic distinctions between the two are important to consider for the ophthalmologist, who may be involved in the initial diagnosis of the patient.
2.
Nutritional therapies for ocular disorders: Part Three.
Gaby, AR
Alternative medicine review : a journal of clinical therapeutic. 2008;(3):191-204
Abstract
Parts one and two of this series discussed nutritional and botanical treatments for cataracts, glaucoma, and retinal diseases (macular degeneration, diabetic retinopathy, retinopathy of the newborn, and retinitis pigmentosa). This review discusses nutritional treatments for asthenopia, blepharitis, chalazion, conjunctivitis (including giant papillary conjunctivitis), gyrate atrophy of the choroid and retina, keratoconus, myopia, sicca syndrome (dry eyes), and uveitis. The evidence presented in this three-part series indicates natural medicine has an important role to play in the practice of ophthalmology.