A term newborn girl was referred for ophthalmological assessment at 20 days of life due to the appearance of occasional nystagmus. Her mother, with no significant history during pregnancy, had undergone glaucoma surgery at 20 years of age with bilateral trabeculectomy and reconstructive surgery for syndactyly of the hands. Ophthalmological examination revealed microcorneas with discreetly veiled appearance, occasional horizontal nystagmus, bilaterally increased digital ocular tone and fundus with preserved papillae; and general physical examination revealed a narrow nasal pyramid with narrow nostrils and thin nasal wings, mild micrognathia and syndactyly of the fourth and fifth fingers of both hands. Under sedation, tonometry revealed intraocular pressure (IOP) of 35 and 40mm Hg in the right and left eyes, respectively, and epithelial oedema and superficial corneal clouding.

Bilateral trabeculectomy was performed with good postoperative IOP control, without the need for additional topical drugs. At the last ophthalmological examination, at 14 months of age, the patient was in orthotropia, with good fixation and light tracking, refractive defect of -4 dioptres in both eyes, diffuse blisters and no inflammatory signs, and good IOP control was confirmed. No alterations of interest were found in the FO.