Pigmentary degeneration

Racemase deficiency. The biological role of 2-methyl-acyl-CoA racemase has only recently been clarified. This peroxisomal enzyme is essential for certain steps of the oxidation of phytol and bile acid derivatives, which are stereospecific. Biochemically there is accumulation of pristanic acid and C27 bile acid intermediates. Clinical symptoms may include adult-onset peripheral neuropathy, pigmentary degeneration of the retina and liver disease [ 13]. 

Lakhanpal V, Schocket SS, Jiji R. Deferoxamine (Desferal)-induced toxic retinal pigmentary degeneration and presumed optic neuropathy. Ophthalmology 1984 91(5) 443-51. 

Ammann F, Klein D, Franceschetti A. 1965. Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland. J Neurol Sci 2 183-196. 

Miyata, M Ivnai. H.. and l,shikawa, S. (1979). ExpcrimcnLil retinal pigmentary degeneration by organopho,sphorus pc.stieidc.s in rat.s, Excerpta Medico Int. Cemgr. Ser. 450 l,901-9t)2. 

Ohio, K. (1974). Long-term follow-up of chronic orgaiinphosphaie intoxication (Saku disease) with special reference to retinal pigmentary degeneration. Nii wn Ganka Gakki Zasshi 78, 237-243. 

Chamlin, M., and E. Billet Ophthalmoplegia and pigmentary degeneration of the retina. Arch. Ophthal. 43, 217 (1950). 

Retinitis is not limited to the periphery but involves also the macula. Pigmentary degeneration and proliferation of the typical bone corpuscle and clumped type are characteristic of the advanced lesion (Bassen and Kornzweig 1950 Mier et al. 1960). It remains to be seen whether the subjects with normal retinas at the ages of 9 and 13 years respectively (Schwartz et al. 1963 di George et al. 1961) will eventually develop retinopathy. 

Mier, M., S. 0. Schwartz, and B. Boshes Acanthocytosis, pigmentary degeneration of the retina and ataxic neuropathy a genetically determined syndrome with associated metabolic disorder. Blood 16, 1586 (1960). 

Miyata, M., Imai, H. and Ishikawa, S., 1979, Experimental retinal pigmentary degeneration by organophosphorus pesticides in rats. Excerpta Med. Int. Cong. Ser. 450. 1. Ophthalmology 901... 

Kearns-Sayre syndrome [17] A multisystem disorder characterized by the invariant triad onset before age 20 years, PEO, pigmentary retinal degeneration plus at least one of the following complete heart block, cerebrospinal fluid protein above 100 mg/dl, cerebellar ataxia. Large-scale heteroplasmic mitochondrial DNA deletions are frequently detected in skeletal muscle (rarely in other tissues). 

Ophthalmoplegia Optic neuropathy Pigmentary retinal degeneration Cataract... 

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