Ocular manifestations of De Lang syndrome

That the ocular manifestations of de Lange syndrome can be helpful in differential diagnosis is not widely known. Most people are aware that bushy eyebrows, synophrys, antimongoloid slant, long lashes and telecanthus are present. However, most are unaware of the other ocular findings such as blepharophimosis, ptosis, mongoloid slant, esotropia, exotropia, nystagmus, microcornea, blue scleras, high myopia, pupillary anomalies, orbicularis oculi paresis and pallor of the optic disk. We have intensely studied a 20 yr old girl who presented with features of de Lange and bilateral posterior subcapsular cataracts. Chromosome studies were normal. As far as we can ascertain, posterior subcapsular cataracts have not been reported with de Lange patients. Patients with cataracts should receive additional biochemical investigation to attempt to detect enzyme deficiencies which might predispose to or cause cataract formation. Diagnosis of de Lange in adult patients is difficult. Heterogeneity of the syndrome probably exists. We strongly recommend the reporting in detail of atypical cases of de Lange syndrome.