Ocular manifestations of Fabry disease within in a single kindred

Corneal verticillata in Fabry disease.

Family pedigree. Squares and circles represent male and female members of the family, respectively. Red indicates that the individual is affected by Fabry disease. A question mark indicates that the individual's gender has not been recorded. A diagonal line through indicates a deceased individual. Patient numbers correspond to numbers in tables and other figures.

Distribution of central corneal thickness in 23 Fabry patients. Note that right and left eye were averaged and plotted as a single point. White square = female; Grey square = male.

Conjunctival tortuosity seen in patient 23.

Episcleral tortuosity in a non-Fabry individual.

Retinal blood vessel tortuosity seen in patient 12.

A, Nerve fiber layer scan of patient 20 (right eye). B, Nerve fiber layer scan of patient 20 (left eye).

A, Visual field of patient 20 (right eye). B, Visual field of patient 20 (left eye).

Retinal blood vessel tortuosity seen in a non-Fabry individual.