Short Stature With Optic Atrophy and Cone Dystrophy

A 26-year-old man presents with reduced visual acuity in both eyes since early childhood. He has short stature and progeroid appearance. Examination results show diffuse optic atrophy and fine pigmentary mottling changes at the fovea in both eyes, normal dark-adapted responses and severely reduced light-adapted responses, and thinning of retinal nerve fiber layers and disruption of outer nuclear layers and ellipsoid zone at the center of the fovea. What would you do next?
Source: JAMA Ophthalmology - Category: Opthalmology Source Type: research