Ophthalmologic Features of Progeria

Abstract

Purpose: To establish the natural history of ophthalmic characteristics in Progeria patients and to determine incidence of ocular manifestations.

Design: Retrospective case series of patients with Progeria who were seen between 2007 and 2016.

Methods: Setting: Tertiary-care academic center.

Patient population: Fourteen patients (28 eyes) with Hutchinson-Gilford Progeria syndrome were included for statistical analysis from a total of 84 patients who have been enrolled in clinical trials for Progeria at Boston Children's Hospital. Clinical treatment trial patients who were not seen at the Department of Ophthalmology at our hospital, but for whom we had detailed clinical ophthalmologic records, were also included. This essentially represents an estimated 20% of the world's known patients with Progeria. Interventions or Observation Procedures: Complete ophthalmic examination.

Main outcome measures: Visual acuity, stereoacuity, refraction, clinical findings of slit-lamp and dilated fundus examinations.

Results: Ophthalmic manifestations noted were hyperopia and signs of ocular surface disease owing to nocturnal lagophthalmos and exposure keratopathy. Additional ophthalmic manifestations included reduced brow hair, madarosis, and reduced accommodation. Most patients had relatively good acuity; however, advanced ophthalmic disease was associated with reduced acuity.

Conclusions: Children with Progeria are at risk for serious ophthalmic complications owing to ocular surface disease. Children with Progeria should have an ophthalmic evaluation at the time of diagnosis and at least yearly after that. Aggressive ocular surface lubrication is recommended, including the use of tape tarsorrhaphy at night.