Fleck corneal dystrophy
Fleck corneal dystrophy
Fleck corneal dystrophy (pronounced: /flɛk kɔːrˈniːəl dɪsˈtrəfi/) is a rare, autosomal dominant eye disorder that affects the cornea. It is characterized by numerous tiny, flat, white or yellowish flecks scattered over the layers of the cornea.
Etymology
The term 'Fleck corneal dystrophy' is derived from the German word 'fleck', meaning 'spot' or 'speck', and the Greek word 'dystrophy', meaning 'nourishment'. This refers to the characteristic appearance of the cornea in affected individuals, which resembles a speckled pattern due to the presence of numerous tiny flecks.
Symptoms
The primary symptom of Fleck corneal dystrophy is the presence of numerous tiny, flat, white or yellowish flecks scattered over the layers of the cornea. These flecks are usually asymptomatic and do not affect vision. However, in some cases, they may cause mild visual impairment.
Causes
Fleck corneal dystrophy is caused by mutations in the PIKFYVE gene. This gene provides instructions for making a protein that is involved in the transport of proteins and other materials within cells. Mutations in the PIKFYVE gene disrupt this process, leading to the accumulation of abnormal materials in the cornea and the characteristic flecks seen in this disorder.
Diagnosis
Diagnosis of Fleck corneal dystrophy is typically made based on a thorough eye examination, including a detailed examination of the cornea. Genetic testing may also be performed to confirm the diagnosis and identify the specific mutation in the PIKFYVE gene.
Treatment
There is currently no cure for Fleck corneal dystrophy. Treatment is typically focused on managing any symptoms and preventing complications. This may include the use of lubricating eye drops or ointments to relieve any discomfort caused by the flecks.
Related Terms
External links
- Medical encyclopedia article on Fleck corneal dystrophy
- Wikipedia's article - Fleck corneal dystrophy
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