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Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block Unusual Syndrome with Histologic Study in One of Two Cases

AMA Arch Ophthalmol. 1958;60(2):280-289. doi:10.1001/archopht.1958.00940080296016.
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Pigmentary degeneration of the retina (retinitis pigmentosa) may appear as an isolated finding unassociated with other systemic abnormalities. Often, however, the patient may present other abnormalities, a number of which occur frequently enough in association with retinitis pigmentosa to be recognized as a syndrome. The Lawrence-Moon-Biedl syndrome, consisting of pigmentary degeneration of the retina, obesity, mental retardation, hypogenitalism, and polydactyly, is such an example. There also may be other less common abnormalities, such as deafness, convulsions, ophthalmoplegia, cerebellar ataxia, and progeria (premature aging) associated with retinitis pigmentosa.

External ophthalmoplegia is one of the uncommoner abnormalities found associated with pigmentary degeneration of the retina. Barnard and Scholz1 reported four cases of this association and concluded that the association was more than just coincidental. Walsh2 agreed with them and stated that the association is not just fortuitous but rather represents a syndrome. He listed five cases that he had observed,


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