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.
Original language | English (US) |
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Pages (from-to) | 106-113 |
Number of pages | 8 |
Journal | Archives of ophthalmology |
Volume | 88 |
Issue number | 1 |
DOIs | |
State | Published - Jul 1972 |
Externally published | Yes |
Keywords
- Meckel syndrome
- aniridia
- chamber angle anomaly
- microphthalmos
- optic hypoplasia
- recessive inheritance
- retinal dysplasia
- sclerocornea
ASJC Scopus subject areas
- Ophthalmology