Autosomal recessive congenital hereditary corneal dystrophy associated with a novel mutation in two consanguineous Tunisian families.

Background: Autosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is known to be caused by mutations in the solute carrier family 4 member 11 () gene which encodes a membrane transporter protein (sodium bicarbonate transporter-like solute carrier family 4 member 11).

Methods: To identify gene mutations associated with CHED (OMIM: #217700), genomic DNA was extracted from whole blood and sequenced for all exons and intron-exon boundaries in two large Tunisian families.

Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.

Background: Epidemiological studies of hereditary eye diseases allowed us to identify two Tunisian families suffering from macular dystrophies: Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The purpose of the current study was to investigate the clinical characteristics and the underlying genetics of these two forms of macular dystrophy.

Methods: Complete ophthalmic examination was performed including optical coherence tomography, electroretinography, electrooculography and autofluoresence imaging in all patients.

Ocular involvement associated with varicella in adults.

Background: Varicella is a common infectious disease primarily of childhood that is usually benign and self-limited. It is, however, increasingly seen in adults who are at a higher risk of severe infection. Ocular complications of varicella are relatively uncommon and have been rarely described in adults.