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Results 31 - 40 of 523 for Abnormality of the eye
  1. Pseudoxanthoma elasticum 
    ... joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells ... the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks ...
    https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum - Genetics
  2. COL4A4 gene 
    ... condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these variants change single protein building ... of the condition can have hearing loss and eye abnormalities in addition to kidney problems. More About This ...
    https://medlineplus.gov/genetics/gene/col4a4 - Genetics
  3. COL4A1 gene 
    ... small-vessel disease is characterized by stroke and eye abnormalities. Most of the identified COL4A1 gene mutations that ... throughout the body, kidney disease, muscle cramps, and eye abnormalities. Most of the identified COL4A1 gene mutations that ...
    https://medlineplus.gov/genetics/gene/col4a1 - Genetics
  4. COL4A3 gene 
    ... condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these variants change single protein building ... of the condition can have hearing loss and eye abnormalities in addition to kidney problems. More About This ...
    https://medlineplus.gov/genetics/gene/col4a3 - Genetics
  5. Oculofaciocardiodental syndrome 
    ... features (facio-), heart (cardio-), and teeth (dental). The eye abnormalities associated with OFCD syndrome can affect one or ... eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.People ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
  6. Xeroderma pigmentosum 
    ... noncancerous growths on the eye. Many of these eye abnormalities can impair vision. About 30 percent of people ... in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, ...
    https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum - Genetics
  7. CASK-related intellectual disability 
    ... ear (sensorineural hearing loss), and most also have abnormalities affecting the eyes. These abnormalities include underdevelopment of the nerves that ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  8. Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 
    ... Axenfeld-Rieger anomaly is associated with various other eye abnormalities, including underdevelopment and eventual tearing of the colored part of the eye (iris), and a pupil that is not in ...
    https://medlineplus.gov/...athy-aneurysms-and-muscle-cramps-syndrome - Genetics
  9. Coats plus syndrome 
    ... of the retina to separate (retinal detachment). These eye abnormalities often result in vision loss.People with Coats ...
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  10. Episodic ataxia 
    ... Additionally, a muscle abnormality called myokymia or an eye abnormality called nystagmus can occur during or between episodes. Myokymia causes muscle cramping; stiffness; or continuous, fine muscle twitching ... involuntary eye movements. Episodes of ataxia and other symptoms can ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - Genetics
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