Cone Dystrophy

Cone dystrophy is a general term for a group of rare, inherited eye disorders that affect the cone cells in the retina, which usually occur as a part of a larger syndrome. A cone cell is any of the photoreceptor cells in the retina of the eye that functions best in relatively bright light and allows for color vision and finer detail.

The main symptoms of cone dystrophy are:

  • Photophobia- is eye discomfort in bright light.
  • Loss of detail vision
  • Difficulty distinguishing colors
  • Loss of central vision
  • Development of rapid uncontrolled eye movement (nystagmus)

Cone dystrophy leads to loss of central and color vision. People with stationary dystrophy have the same level of sight loss from birth to early childhood. Progressive dystrophy develops later in life sight is lost gradually over time.

Diseases sometimes associated with cone dystrophy:

  1. Retinitis Pigmentosa (RP) is a rare, inherited degenerative eye disease that often causes severe vision impairment with symptoms beginning in childhood.
  2. Achromatopsia is a non-progressive, hereditary visual disorder that is characterized by the absence of color vision, decreased vision, light sensitivity, involuntary shaking, and a jerking movement of the eyes.
  3. Bardet-Biedl syndrome is a complex disorder that affects many parts of the body, including the retina. Individuals with the syndrome have retinal degeneration.
  4. Refsum Disease is a very rare genetic disorder impacting the metabolism of phytanic acid (A fatty acid obtained through dairy products.). Patients with this disease have:
    • difficulty seeing in the dark
    • tunnel vision
    • Vision loss
    • Bone abnormalities
    • Neurological symptoms
    • Itchy, scaly skin
    • Loss of smell
    • Hearing loss
    • Abnormal heart rhythms
  5. Batten Disease is a group of fatal genetic disorders (13 types). This disease affects the body’s ability to get rid of cellular waste (lipids and proteins). The build-up in cells throughout the body causes seizures, vision loss, and problems with thinking and movements.
  6. NARP syndrome is a maternally inherited nerve disease affecting the nerves outside of the central nervous system (peripheral neuropathy).







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