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Retinal dystrophy and macular coloboma (1988)

Heckenlively, John R. ; Foxman, Scott G. ; Parelhoff, Edward S.

Springer

Documenta ophthalmologica 68 (1988), S. 257-271

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ISSN: 1573-2622

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with pigmentary retinopathy. Review of the pertinant literature and clinical evidence suggest that both conditions are distinct entities inherited in the autosomal recessive manner.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00156432

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