Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature

Table 1

Typical connective tissue disorders with ocular, auditory, musculoskeletal and cutaneous features in brittle cornea syndrome (modified from [1]).

Ocular features
Keratoconus
High myopia
Progressive central corneal thinning
Retinal detachment
Irregular astigmatism
Corneal or scleral spontaneous rupture
Vision loss
Auditory features
Progressive deafness for higher frequences
Hypercompliant tympanic membrane
Cutaneous features
Mild hyperelasticity
Soft and pasty skin
Musculoskeletal features
Pes planus, Hallux valgus
Hip dysplasia
Contracture of the fingers or arachnodactyly
Musculoskeletal hypotonia