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July 1972

Ocular Manifestations of the Meckel Syndrome

Author Affiliations

New Haven, Conn
From the departments of ophthalmology (Drs. MacRae, Howard, and Albert), pediatrics, and medicine, and the Division of Medical Genetics (Dr. Hsia), Yale-New Haven Hospital, New Haven, Conn.

Arch Ophthalmol. 1972;88(1):106-113. doi:10.1001/archopht.1972.01000030108028

The Meckel syndrome is a genetically determined (autosomal recessive) disease with major developmental abnormalities incompatible with life. The ocular manifestations include cryptophthalmos, clinical anophthalmos, microphthalmos, sclerocornea, microcornea, abnormal iridocorneal angle, partial aniridia, cataract, persistent tunica vasculosa lentis, retinal dysplasia, posterior staphyloma, and hypoplasia of the optic nerve. The ocular abnormalities are very similar to those of the 13-15 trisomy syndrome, but the chromosome karyotype is normal in the Meckel syndrome.

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