Cryptophthalmos: a report on three sibling cases.
Three siblings, two females and one male, with the rare disease, cryptophthalmos, are reported on. Cryptophthalmos is usually familiar, inherited as an autosomal recessive trait. The clinical manifestations indicate that the eyeball is present but disorganised; the lid muscles, extraocular muscles, and the nerve elements controlling ocular movements in the brain are developed. Treatment is of no avail, but in unilateral cases the partial lid coloboma, anterior symblepharon, and corneal opacification of the opposite eye may be somewhat improved by surgery.
Zhang
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D000015:Abnormalities, Multiple; D000328:Adult; D005124:Eye Abnormalities; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree