Case Report
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 | |
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