Cataracts, Anterior Polar with Guttata

Clinical Characteristics
Ocular Features: 

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.

Systemic Features: 

No associated systemic disease has been reported.


This is a presumed autosomal dominant disorder resulting from heterozygous mutations in the TMCO3 gene (13q34).

Another type of autosomal dominant anterior polar cataract, CTAA2 (601202), but without corneal disease has been mapped to 17p13 and yet another (CTAA1) (115650) is associated with chromosomal aberrations.

Treatment Options: 

Cataract extraction and corneal transplantation can improve vision but are seldom necessary.

Article Title: 


Chen P, Hao X, Li W, Zhao X, Huang Y. Mutations in the TMCO3 Gene are Associated with Cornea Guttata and Anterior Polar Cataract. Sci Rep. 2016 Aug 3;6:31021.

PubMedID: 27484837

Traboulsi EI, Weinberg RJ. Familial congenital cornea guttata with anterior polar cataracts. Am J Ophthalmol. 1989 Aug 15;108(2):123-5.

PubMedID: 2757092

Dohlman C-H. Familial congenital cornea guttta in association with anterior polar cataract. Acta Ophthal. 1951; 29: 445-473.