Atlas of Ophthalmology

Sorsby Fundusdystrophy with bilateral CNV (Colour, FLA, OCT)

Retina -> Hereditary Degenerations and Dystrophies -> Retinal Pigment Epithelium (RPE)
Young female, 17 years old OD/OS since tree weeks decreasing visual acuity No eye diseases in own family Three variations of Sorsby fundus dystrophy (SFD) in the fundus appearances were distinguished: (1) most common, white to yellow fundus spots (not drusen) with a disciform macular degeneration; (2) the fundus spots are absent; (3) the yellow deposits are associated with atrophic macular degeneration. The atrophy of the retina, pigment epithelium, and choroid slowly progresses toward the periphery. Sorsby fundus dystrophy (SFD) is characterized as an autosomal dominant disorder. Patients lose central vision during the 4th or 5th decade of life. The tissue inhibitor of metalloproteinases-3 (TIMP3) is identified as one of the disease-causing gene in SFD. The novel heterozygous Gly166Cys mutation in TIMP3 provides strong evidence for an autosomal dominant inheritance of the SFD phenotype. SFD is a genetically homogeneous, autosomal dominant condition.

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