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Usher syndrome (hereditary retinitis pigmentosa-deafness syndrome)


Usher Syndrome (Hereditary Retinitis Pigmentosa-Deafness Syndrome)

General: Retinitis pigmentosa associated with deaf-mutis 626f53g m; dominantly inherited; anatomic and metabolic condition; onset unknown (see Hallgren Syndrome).

Ocular: Concentric contraction of visual fields; retinitis pigmentosa with dotted, fine pigmentation in midperiphery; bone-corpuscle conured pigment deposits mainly along the vessels toward the periphery; yellow-white dots in outer retina and choroid; poor night vision.

Clinical: Deaf-mutism; however, deafness is not always complete; multiple sclerosis.

Berson EL, Adamian M. Ultrastructural findings in an autopsy eye from a patient with Usher's syndrome type II. Am J Ophthalmol 1992;114:748-757.

Holland MG, et al. An evaluation of genetic carriers of Usher's syndrome. Am J Ophthalmol 1972; 74:940.

Lynch SG, et al. Usher's syndrome and multiple sclerosis. Review of an individual with Usher's syndrome with a multiple sclerosislike illness. J Neuro-Ophthalmol 1994; 14:34-37.

Muftuoglu AU, et al. Polycythemia vera associated with Usher's syndrome. Am J Ophthalmol 1975;80:93-95.

Usher CH. On the inheritance of retinitis pigmentosa with notes of cases. R Lond Ophthalmol Hosp Rep 1913/1914; 19:130.




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