LHON Plus

LHON

The “classic” pattern of LHON (Leber Hereditary Optic Neuropathy) is:

Acute Phase

  • Usually some time between the ages of 15 to 30
  • Suddden onset loss of central vision (Central Scotoma) in one eye
  • Swelling of Optic Disk and Retinal Nerve Fiber Layer
  • Painless
  • After a few weeks, sudden onset loss of central vision in the second eye.
  • Eyesight deteriorates rapidly with Scotoma growing in size.
  • Rate of Vision loss stops or dramatically slows after about two months from first onset.
  • Significant thinning of Retinal Nerve Fiber Layer
  • Pale Optic Disc
  • Swollen and distorted retinal blood vessels

Chronic Phase

  • Stable large bilateral central scotoma leading to legal blindness
  • Peripheral Neuropathy (numbness, tingling of arms and/or legs)
  • Tremors
  • Motor Tics

LHON Plus

This is a shorthand way of referring to a seperate condition with several medical names: OMIM entry 500001

  • LHON Plus Dystonia
  • Leber Hereditary Optic Neuropathy with Dystonia
  • Leber Optic Atrophy with Dystonia
  • LDYT
  • Familial Dystonia with Visual Failure and Striated Lucences
  • Marsden Syndrome

This condition has the classic features of LHON but additionally has:

Dystonia

Uncontrolled contraction of muscles, leading to twisting or erratic movement of body parts, repititive movements or abnormal postures.

Bilateral Symmetrical Lucence of Putamen

Clear, almost “glowing” stripes or striations in part of the brain called the Putamen when doctors exame it using Computerized Tomography (a CT Scan).

The Putamen is the part of the brain responsible for preparing and carrying out movements.

Brain Structure Diagram

Range of Symptoms

LHON Plus researchers describe a wide range of symptoms and severity of he disorder, sometimes even in the same family.

LHON Plus can include:(3711913)(8644732)(17562939)(19458970)(16380132)

LHON only with no Dystonia iin some family members

Chronic Motor Tic Disorder

Parkinsonism

Progressive Dystonia on one side or both sides.

Short Stature

Kyphosis (exaggerated curvature and rounded upper back)

Early-onset dementia

Necrosis (damaged/dying tissue) in the Basal Ganglia of the Brain

Mitochondrial Gene Mutations associated with LHON Plus

ND1 G3697A (17562939)

ND3 G10197A (19458970)

ND4 G11696A (8644732)

ND6 G14459A (16380132)

ND6 T14596A (8644732)

ND6 G14459 (8016139)

LHON and Multiple Sclerosis (MS)

LHON and Multiple Sclerosis are two entirely different disorders with different causes, symptoms and prognosis.

Many people affected by LHON are tested for Multiple Sclerosis, since loss of eyesight can be an early symptom of MS.

When someone does have both LHON and MS, then the two conditioins seem to combine to produce more aggressive or severwe symptoms. (24198293)

See the seperate page on LHON and MSĀ 

This page was last updated August 15 2015

 

Bibliography

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