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Not
MeSH Term.
NLM,
MCA/MR Syndromes by S.
Jablonski - description:
Total or nearly total blindness present at birth or shortly
thereafter.
The fundus may appear normal at birth but pigmentary changes similar to
those seen in retinitis pigmentosa take place later in life. Ocular
complications may include atrophic changes, cataract, keratoconus, absence
of the rods and cones, hyperopia, microphthalmia, optic disk edema,
nystagmus, photophobia, and Enophthalmos may occur due to digital self
stimulation. Some patients show psychomotor retardation, sensory hearing
loss, hypotonia, and various neurological disorders.
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