[Skip to Content]
[Skip to Content Landing]
Article
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
Abstract

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.

References
1.
Opitz JN, Howe JJ: The Meckel Syndrome . Birth defects original article series, 1969, vol 5, No. 2, pp 167-179.
2.
Miller JO, Selden RF:  Arhinencephaly, encephalocele and 13-15 trisomy syndrome with normal chromosomes . Neurology 17:1087-1091, 1967.Article
3.
Opitz JN, Howe JJ: The Meckel Syndrome. Birth defects original article series, 1969, vol 5, No. 2, pp 167-179.
4.
Hsia YE, Bratu M, Herbordt A:  Genetics of the Meckel syndrome . Pediatrics 48:237-247, 1971.
5.
Mecke S, Passarge E:  Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: The Meckel syndrome . Ann Genet 14:971, 1971.
6.
Opitz JN, Howe JJ: The Meckel Syndrome . Birth defects original article series, 1969, vol 5, No. 2, pp 167-179.
7.
Meyer-Schwickerath G, Grüterich E, Weyers H:  Mikrophthalmussyndrome . Klin Mbl Augenheilk 131:18-30, 1957.
8.
Babel J:  Microphthalmie associée à une microcéphalie et à un pseudo-hermaphrodisme . Arch Ophthal 27:469-476, 1967.
9.
Dekaban AS:  Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain . Amer J Ophthal 68:1029-1037, 1969.
10.
Reese AB, Blodi FC:  Retinal dysplasia . Amer J Ophthal 33:23-32, 1950.
11.
Reese AB, Straatsma BR:  Retinal dysplasia . Amer J Ophthal 45:199-211, 1958.
12.
Krause AC:  Congenital encephalo-ophthalmic dysplasia . Arch Ophthal 36:387-444, 1946.Article
13.
Smith DW, Lemli L, Opitz JN:  A newly recognized syndrome of multiple congenital anomalies . J Pediat 64:210-217, 1964.Article
×