A Patient with a Rare Chromosome Deletion Presents with Evidence of Spontaneous Resolution of Primary Congenital Glaucoma

Interstitial deletions of chromosome 6q are very rare. Since the first case was reported in 1975, just over 65 cases have been reported in the literature [1,2]. Patients with 6q25 deletions present with variable characteristics depending on the location, size and break points of the deletion. Published cases of this deletion report a wide array of dysfunctions [1-6]. Intellectual disabilities, global developmental delays, postnatal growth retardation, feeding difficulties, gastrointestinal abnormalities, hearing impairments, dysmorphic features of the face, head (microcephaly) and genitalia, heart defects, seizures and structural brain abnormalities including dysgenesis of the corpus callosum, have all been reported. There have been ocular abnormalities reported including poor visual development; retinal abnormalities and strabismus [16]. To our knowledge there have been no reports in the literature of congenital glaucoma with this chromosome deletion.