Ocular findings in two siblings with Joubert syndrome
An 11-year-old boy presented with ptosis and strabismus of his left eye along with an abnormal head posture. He had delayed motor and language development with episodic hyperpnea–apnea spells and hypotonia in infancy. JS diagnosis was made on the basis of the characteristic MTS on MRI and neurological findings observed in the pediatric clinic. He showed mild facial dysmorphism in the form of forehead prominence and bilateral epicanthic folds. He had ptosis, hypotropia, and exotropia in his left eye, and he was unable to maintain his eyes in a central position by convergence. He also had horizontal pendular nystagmus. On ophthalmic examination, best-corrected visual acuity in his right eye was 1.2 with −1.00 D, and was 1.2 with −1.25 D −1.50 D ×50° in his left eye. Slit-lamp examination showed no abnormalities in either of his eyes. Funduscopy showed coloboma in his right eye and a colobomatous optic disc in his left eye (, arrows). OCT showed that the foveal architecture was preserved in both eyes (). In addition, on the basis of the Early Treatment Diabetic Retinopathy Study sectors, the thickness of center (central fovea), inner ring (1–3 mm from the central fovea), and outer ring (3–6 mm from the central fovea) in his right eye were 283 μm, 327.5 μm, and 272.0 μm, respectively. In his left eye, these measurements were 284 μm, 315.0 μm, and 270.0 μm, respectively.