Franceschetti Disease (Fundus Flavimaculatus) 4
General: Affects both sexes; on 656g67g set between ages 10 and 25 years; autosomal recessive; genetic linkage analysis has assigned the disease locus to chromosome 1p21-p13.
Ocular: Irregular yellowish deposit in and around the macula lutea forming a garland; impaired central vision with intact peripheral retinal function; bilateral retinal dystrophy; progressive subretinal fibrosis; chorioretinal punched-out spots in the posterior pole and midperiphery of the retina.
Clinical: None.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes. Philadelphia: JB Lippincott, 1981.
Parodi MB. Progressive subretinal fibrosis in fundus flavimaculatus. Acta Ophthalmol 1994; 72:260-264.
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