Persistent pseudomyopia following a whiplash injury in a previously emmetropic woman.

PURPOSE: Accommodative spasm, which manifests as ciliary muscle spasm, convergent strabismus or miosis, is a recognised consequence of head trauma. In whiplash cases, cervical spine hyperextension poses a risk of contra-coup injury and brainstem trauma, and is known to affect the visual system. However, to date, no cases of accommodative spasm due to whiplash injury have been reported. OBSERVATIONS: We present the case of a 34-year-old female who developed sudden onset blurred distance vision after a rear impact car crash, having previously been emmetropic. Her unaided distance visual acuity was 20/70 in the right eye and 20/20 in the left. Best-corrected visual acuity in the right eye was 20/20 with a correction that progressed from -1.75 to -3.50 DS over the 12 months following the accident.This patient's sudden unilateral myopia, with unilaterally increased amplitude of accommodation suggests pseudomyopia due to accommodative spasm. Magnetic resonance imaging showed no evidence of injury to her brain stem, frontal lobes or oculomotor nerve. The patient is now well adjusted with a -3.50DS corrective lens for the right eye. CONCLUSIONS AND IMPORTANCE: The accommodation reflex is susceptible to injury at the occipital lobe, frontal eye fields, Edinger-Westphal nuclei and oculomotor nerves. As such it should be examined in patients who present with visual disturbances following whiplash injury.It is important that such cases are identified at presentation, as early intervention can improve outcomes in accommodative spasm and reduce the long term psychological effects often associated with whiplash injuries.

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

PURPOSE: Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3. METHODS: All pedigrees and sporadic individuals with CFEOM3 in the authors' database were identified, whether the pedigrees were linked or consistent with linkage to the FEOM1, FEOM2, and/or FEOM3 loci was determined, and the appropriate pedigrees and the sporadic individuals were screened for mutations in KIF21A and PHOX2A. RESULTS: Twelve CFEOM3 pedigrees and 10 CFEOM3 sporadic individuals were identified in the database. The structures of eight of the pedigrees permitted the generation of meaningful linkage data. KIF21A was screened in 17 probands, and mutations were identified in two CFEOM3 pedigrees. One pedigree harbored a novel mutation (2841G-->A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C-->T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A. CONCLUSIONS: The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype.

Retinal findings in children with intracranial hemorrhage.

PURPOSE: To identify the incidence of Terson's syndrome in children. DESIGN: Prospective, observational case series. PARTICIPANTS: Fifty-seven consecutive children with known intracranial hemorrhage from nonabuse causes. METHODS: Dilated fundus examination to detect intraretinal hemorrhages or other abnormalities. MAIN OUTCOME MEASURES: Presence or absence of intraretinal hemorrhages or other abnormalities. RESULTS: Fifty-five patients (96%) had no evidence of intraretinal or vitreous hemorrhage. Two patients had abnormal retinal examinations. One patient had a single dot hemorrhage associated with presumed infectious white retinal lesions. The second patient had three flame and two deeper dot intraretinal hemorrhages after a motor vehicle accident (1.5% incidence of retinal hemorrhage). CONCLUSIONS: Retinal hemorrhage is uncommon in children with intracranial hemorrhage not resulting from shaken baby syndrome. The maximal incidence of intraretinal hemorrhage in children with nonabuse intracranial hemorrhage is 8%.