Retinal dystrophy

Bunt-Milam, A.H., Kalina, R.E., Pagon, R.A., 1983. Clinical-ultrastructural study of a retinal dystrophy. Invest... 

Faktorovich, E. G., Steinberg, R. H., Yasumura, D., Matthes, M. and LaVail, M. M. Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor. Nature 347 83-86,1990. 

Nevertheless, very limited research has been carried out to develop DDS for the posterior segment of the eye in the last decades. Whereas new antiangiogenic compounds and neurotrophic factors can open new therapeutic avenues in the treatment of AMD, retinal dystrophies and ocular manifestations of diabetes, the frequent intraocular injections of these compounds remain a problem and are associated with complications and discomfort for the patient. Thus, the need for efficient noninvasive DDS for the administration of drugs to the back of the eye is awaiting a ground-breaking multidiscipline advancement. 

Parisi MA, Doherty D, Eckert ML ct al. AHIl mutations cause both retinal dystrophy and renal cystic disease in joubert syndrome. J Med Genet 2006 43(4) 334-39. 

Thanos, S., Sick photoreceptors attract activated microglia from the ganglion cell layer. A model to study the inflammatory cascades in rats with inherited retinal dystrophy, Brain Res., 588, 21, 1992. 

Gal A, Li Y, Thompson DA, Weir J, Orth U, et al. 2000. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa (in Proces.s Citation). Nat Genet 26 270-271. 

Mullen RJ, La Vail MM. 1976. Inherited retinal dystrophy Primary defect in pigment epithelium determined with ejqjerimental rat chimeras. Science 192 799-801. 

A single EFEMPl mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 22 199-202. 

LaVail MM, Sidman RL, Gerhardt CO. Congenic strains of RCS rats with inherited retinal dystrophy. J Hered 1975 66 242-244. 

Vollrath D, Feng W, Duncan J, et al. Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc Natl Acad Sci USA 2001 98 12,584-12,589. 

Eckhert CD and Rowe R1 (1999) Embryonic dysplasia and adult retinal dystrophy in boron-deficient zebrafish. ] Trace Elem Exp Med 12 213-219. 

The treatment of TCHAD deficiency is similar to that of severe VLCAD deficiency. Strict treatment is necessary in order to reduce the development of long-term complications such as retinal dystrophy. Treatment consists of avoidance of fasting, severe reduction of dietary fat, and provision of medium-chain triglycerides, while gnard-ing for sufficient amounts of polyunsaturated fatty acids, in particular docosahexaenoic add (DHA). Fat restriction and particularly sufQdent MCT oil provision are associated with reduced concentrations of 3-hydroxyacylcamitines. 

RCS (Royal College of Surgeons) rat model of retinal dystrophy (Berman et al., 1981), observations on human tissue have indicated that this is not the problem in retinitis pigmentosa. These data are discussed in the final section of this chapter. 

In man several different types of retinal dystrophy/degeneration have been reported. Some of these have an inherited basis, others are associated with other systemic and metabolic diseases. 

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