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  • Title: [Mottled hyperpigmentation of the fundus oculi associated with angioid streaks in pseudoxanthoma elasticum].
    Author: Pisani M, Rossi A, Uzzauto MT, Rinaldi E, Savastano S, Napolitano S.
    Journal: G Ital Dermatol Venereol; 1990 Dec; 125(12):569-74. PubMed ID: 2091980.
    Abstract:
    The Authors report mottled fundus in association with pseudoxanthoma elasticum in 8 of 9 patients. The mottled hyperpigmentation is an early uncommonly described finding, consisting of a speckled, yellowish mottling of the posterior pole temporal to the macula at ophthalmoscopic examination; this appearance, called "peau d'orange", is believed to be caused by changes in the retinal pigmented epithelium overlying a calcified and degenerating Bruch's membrane. This finding is virtually pathognomonic of pseudoxanthoma elasticum and may be present even in the first decade of the disease, prior to the appearance of the angioid streaks. The Authors emphasize the significance of the retinal finding, that may represent an incomplete genetic expression of an autosomal recessive carrier state.
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