Maculocerebral familial degeneration or Batten Mayou syndrome is an autosomal recessive condition which commences in the first decade of life. Defective vision with a central scotoma is accompanied by a weak intellect which is followed by spasticity and convulsions.
Ophthalmoscopic findings
The discs are pale and vessels small. Macula shows yellowish grey spots and granular pigmentation. Similar changes present in other parts of the retina are referred to as "salt and pepper" appearance.
Other features
1.Lymphocytes in peripheral blood are vacuolated(30%) 2. Intracellular deposition of autofluorescent material-persumably lipofuschin occurs throughout the body.
Diagnosis & Treatment
There is no method of prenatal diagnosis Currently, there is no satisfactory treatment.
Outcome
Invariably fatal.
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