ABSTRACT
Eales disease manifests as an obliterative periphlebitis affecting the retina; it originates from the periphery and progresses posteriorly. It is characterized by retinal vessel wall inflammation, ischemia, and retinal neovascularization. In this report, we present the case of a 34-year-old male who attended our clinic with a sudden blurring of vision in his right eye. A diagnosis of bilateral retinal vasculitis with vitreal hemorrhage was ascertained in his RE. A dilated ocular fundus examination revealed perivenous sheathing of the peripheral vessels in both eyes. Fluorescein angiography indicated dye staining, vessel obliteration, capillary drop-out, areas of non-perfusion and the formation of new vessels. Laboratory tests revealed positive results for Borrelia; a PPD skin test and QuantiFERON TB assay were also positive. The patient underwent bilateral retinal laser pan-photocoagulation, followed by systemic treatment with oral steroids, cephazoline, isoniazid, azathioprine, and entecavir. The steroid dose was progressively reduced over 10 months; the treatment with azathioprine continues, as we are monitoring the patient over the long term. After 3 months, the vasculitis had regressed without any vitreal hemorrhage recurrence. Vision acuity improved from 0.4 to 1 in the patient's right eye. A multidisciplinary approach, which included collaborative management with gastroenterology, infectious disease, pulmonology, and rheumatology specialists, was essential for the diagnosis, treatment, and long-term follow up of the patient.
ABSTRACT
Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to optic atrophy due to degeneration of the retinal ganglion cell. A curative treatment is not available at the moment, but a new antioxidant drug, Idebenone, is expected to reduce the progression of the disorder. Two male patients, genetically confirmed with LHON, were clinically, morphologically, and electrophysiologically evaluated, before and three, six, nine and 12 months after starting the treatment. The patient with 3460G>A mutation in mitochondrially-encoded nicotinamide adenine dinucleotide, reduced form (NADH):ubiquinone oxidoreductase core subunit (mtND)1 gene showed an improvement in visual acuity, visual field, and visual evoked potentials with no effect on morphological examinations, while the patient with 11778G>A mutation in mtND4 gene showed no functional, nor morphological recovery after one year of treatment. This study demonstrates that Idebenone, depending on the genetic profile of the disease, may be effective in functional improvement in patients with LHON.
