The combination of corneal guttata and anterior polar cataracts has been reported in at least 4 multigenerational families. Cataracts have their onset in the first decade of life, sometimes as early as 6 months but often are not noted until 3 to 4 years of age. The polar opacities range in size from that of a small dot to 3 mm in diameter. These progress slowly and become nearly stationary in early adulthood but can progress sufficiently to interfere with acuity and sometimes require removal by the 3rd or 4th decades of life. The guttata also appear sometime after birth and are more pronounced centrally. Histologically the stroma is normal but the epithelium shows some edematous changes and the Descemet membrane progressively thickens with age along with the corneal clouding. Visual impairment early is generally caused by the lens opacity while later in life corneal edema is more likely the cause.
Vision across a variety of ages ranges from 20/20 to 20/40 in patients with more stationary disease.
