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March 1976

Optic Nerve Colobomas of Autosomal-Dominant Heredity

Author Affiliations

From the Clinical Branch, National Eye Institute, National Institutes of Health, Bethesda, Md (Drs Savell and Cook) and the Department of Ophthalmology, Yale University School of Medicine, New Haven, Conn (Dr Savell).

Arch Ophthalmol. 1976;94(3):395-400. doi:10.1001/archopht.1976.03910030183002

• Fifteen members of a family had congenital colobomas of the optic nerves, all of which were bilateral. The colobomas appeared as enlargement of the physiologic cup with severely affected eyes having huge cavities in the site of the disc. A variable amount of glial tissue was present within the colobomas.

Either macular or extramacular serous detachment or sequelae were present in 21 of the 30 affected eyes, and often led to total blindness. Radioisotope cisternography in one patient failed to implicate cerebrospinal fluid as the source of the subretinal fluid. The disorder is apparently inherited as an autosomal dominant.

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