Purpose: Peripapillary hyperreflective ovoid mass-like structures (PHOMS) represent an optical coherence tomography (OCT) finding that has been characterized in different forms of pseudopapilledema. The aim of this study was to investigate the prevalence of PHOMS in patients affected by acute LHON using structural OCT, and to provide a detailed description of these findings.
Methods: Patients with a clinical and molecularly confirmed diagnosis of acute LHON (visual loss having occurred less than 6 months) were enrolled from the neuro-ophthalmology clinic at San Raffaele Scientific Institute. Patients had a complete ophthalmologic evaluation, including imaging with structural OCT.
Results: Our analysis included 16 patients (21 eyes-8 males and 8 females) with acute LHON. Structural OCT exhibited PHOMS in 12 eyes from 9 patients with a prevalence rate of 57.1%. In a subsequent topographical assessment in the peripapillary area, the most common location of PHOMS was the temporal region (12 out of 12 eyes), while the nasal region was affected in 2 eyes (16.7%). Considering the 12 eyes with PHOMS, mean ± SD temporal peripapillary RNFL thickness was 87.5 ± 28.4 microns. The temporal peripapillary RNFL thickness was significantly lower in eyes without PHOMS (63.7 ± 32.2 microns; P = 0.40). At the 12-month follow-up visit, PHOMS disappeared in 10 out of 12 eyes.
Conclusions: Acute LHON eyes have PHOMS which are mainly confined to the temporal peripapillary sector. PHOMS may represent swelled retinal fibers that have herniated or are in stasis.
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http://dx.doi.org/10.1007/s00417-023-06205-y | DOI Listing |
Cureus
October 2024
Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, EGY.
Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial genetic disorder that is rarely encountered in daily clinical practice. It presents by an acute or subacute onset and a progressive course of painless, bilateral, sequential severe loss of vision, mostly seen in young males. Mutations in the mitochondrial DNA in these patients lead to dysfunction at complex I of the respiratory chain, causing a selective degeneration of the retinal ganglion cells and predisposition toward the development of the clinical symptoms.
View Article and Find Full Text PDFAm J Med Genet A
October 2024
Department of Pediatric Neurology, Dokuz Eylul University Faculty of Medicine, İzmir, Turkey.
Front Neurol
September 2024
Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited optic nerve disease primarily caused by mutations in mitochondrial DNA (mtDNA). The peak of onset is typically between 15 and 30 years, but variability exists. Misdiagnosis, often as inflammatory optic neuritis, delays treatment, compounded by challenges in timely genetic diagnosis.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
December 2024
Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah Health, Salt Lake City, UT, USA.
Purpose: Reports of atypical cases have increased awareness that Leber's hereditary optic neuropathy (LHON) is not solely a disease of young men. Here, we present a case of a 70-year-old woman who presented with bilateral sequential loss of vision, and, after several diagnostic dilemmas, was ultimately found to have LHON.
Observations: Our patient presented with a one-month history of progressive central vision loss in the right eye.
Case Rep Ophthalmol
June 2024
Department of Neurosurgery, Oslo University Hospital, Oslo, Norway.
Introduction: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that typically presents with painless, central visual loss, hyperaemia of the optic nerve head, and peripapillary telangiectasias. Most LHON cases are due to one of three variants, but several less common variants also exist. We describe a clinical case of LHON associated with the variant m.
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