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- Navigating the LHON-Complex: Expanding the Spectrum Through Case Based Clinical Pearls
Navigating the LHON-Complex: Expanding the Spectrum Through Case Based Clinical Pearls
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FLICNA Podcast
Topic: Navigating the LHON-Complex: Expanding the Spectrum Through Case Based Clinical Pearls
Lecturers: Cemile Busra Olculu (Speaker); Huseyin Bahadir Senol (Speaker); Ipek Polat (Expert Faculty); Seda Kanmaz (Moderator)
When: December 20, 2025
Time: 9:00 - 10:00 AM Eastern Time ( US / Canada )
Click Here to Register
Topic: Navigating the LHON-Complex: Expanding the Spectrum Through Case Based Clinical Pearls
Lecturers: Cemile Busra Olculu (Speaker); Huseyin Bahadir Senol (Speaker); Ipek Polat (Expert Faculty); Seda Kanmaz (Moderator)
When: December 20, 2025
Time: 9:00 - 10:00 AM Eastern Time ( US / Canada )
Click Here to Register
About the Topic:
Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial optic neuropathy characterized by acute or subacute, painless central vision loss caused by selective degeneration of retinal ganglion cells. The condition is most commonly associated with well-defined mitochondrial DNA (mtDNA) point mutations. Classic forms typically present with central scotoma, early impairment of color vision, and progressive bilateral optic neuropathy.
In addition to these classical presentations, a subset of patients exhibit LHON-Plus, a term describing LHON accompanied by extraocular neurological manifestations. LHON-Plus may include brainstem involvement, movement disorders, peripheral neuropathy, myopathy, seizures, or encephalopathy. Some patients may demonstrate syndromic features that overlap with neuroinflammatory or demyelinating disorders.
In recent years, an autosomal recessive form of LHON (arLHON) caused by biallelic variants in the nuclear gene DNAJC30 has been described. Mutations in DNAJC30 disrupt mitochondrial complex I repair mechanisms, broadening the genetic landscape of LHON.
Learning objectives:
Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial optic neuropathy characterized by acute or subacute, painless central vision loss caused by selective degeneration of retinal ganglion cells. The condition is most commonly associated with well-defined mitochondrial DNA (mtDNA) point mutations. Classic forms typically present with central scotoma, early impairment of color vision, and progressive bilateral optic neuropathy.
In addition to these classical presentations, a subset of patients exhibit LHON-Plus, a term describing LHON accompanied by extraocular neurological manifestations. LHON-Plus may include brainstem involvement, movement disorders, peripheral neuropathy, myopathy, seizures, or encephalopathy. Some patients may demonstrate syndromic features that overlap with neuroinflammatory or demyelinating disorders.
In recent years, an autosomal recessive form of LHON (arLHON) caused by biallelic variants in the nuclear gene DNAJC30 has been described. Mutations in DNAJC30 disrupt mitochondrial complex I repair mechanisms, broadening the genetic landscape of LHON.
Learning objectives:
1. To understand the spectrum of LHON and LHON-Plus, including classical mtDNA-mediated disease and the recently recognized nuclear gene–associated autosomal recessive LHON.
2. To recognize clinical and radiologic features that differentiate LHON from its mimics, such as NMOSD, idiopathic intracranial hypertension, and other neuroinflammatory disorders, and to identify red flags for atypical presentations.
3. To appreciate the role of genetic testing—including mtDNA analysis and exome sequencing—in establishing an accurate diagnosis, especially when initial clinical findings are misleading or complicated by extraocular manifestations.
4. To review current management strategies, including idebenone, CoQ10 supplementation, and supportive neuro-ophthalmologic care, as well as indications for further interventions such as shunt placement in cases complicated by intracranial hypertension.
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