Brittle cornea syndrome: current perspectives

Figures & data

Table 1 Brittle cornea syndrome (BCS) manifestations

Summary of common features in patients with BCS
Ophthalmic
Thin cornea, with or without rupture (central corneal thickness often <400 μm)
Enucleation or corneal scarring as a result of previous rupture
Progressive loss of corneal stromal depth, especially in central cornea
Blue sclera
Early onset progressive keratoconus and/or keratoglobus
High myopia, with normal or moderately increased axial length
Retinal detachment
Skin
Soft, doughy skin; other skin manifestations (hyperelasticity, abnormal scarring) are usually mild if present
Auditory
Deafness, often with mixed conductive and sensorineural components
Hypercompliant tympanic membranes
Progressive deafness, higher frequencies often more severely affected (“sloping” pure tone audiogram)
Musculoskeletal Developmental dysplasia of the hip
Hypotonia in infancy, usually mild if present
Scoliosis
Arachnodactyly
Small joint hypermobility, pes planus, hallux valgus
Mild contractures of fingers (especially 5th)

Figure 1 Ocular coherence tomography imaging (Zeiss Visante system) of (upper panel) patient with brittle cornea syndrome due to PRDM5 mutation, and (lower panel) normal control eye. Note extreme thinning throughout the central cornea of the affected eye, with relative sparing of the peripheral cornea.