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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease retinal degeneration
Comorbidity C0027092|myopia
Sentences 2
PubMedID- 21527992 Knobloch syndrome is an autosomal recessive disease characterized by high myopia, vitreoretinal degeneration and occipital encephalocele, and is caused by mutations in the collagen, type xviii, alpha 1 (col18a1) locus [8-10].
PubMedID- 20542432 It is likely that nietzsche suffered from migraines, his blindness in his right eye was a consequence of high progressive myopia associated with retinal degeneration, his anisocoria explained by unilateral tonic pupil, and his dementia by an underlying psychiatric disease.

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