Chiasmal misrouting and foveal hypoplasia without albinism
| Autor: | J Schuil, Frans C. C. Riemslag, M. M. Van Genderen, J. S. Stilma, Françoise Meire, Frank P. Hoeben |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
medicine.medical_specialty
Fovea Centralis Visual acuity genetic structures Adolescent Visual Acuity Optic chiasm Clinical Science - Scientific Report Fundus (eye) Cellular and Molecular Neuroscience Foveal Ophthalmology medicine Humans Child medicine.diagnostic_test business.industry Fundus photography Fovea centralis Anatomy medicine.disease Albinism Ocular Sensory Systems Hypoplasia eye diseases medicine.anatomical_structure Editorial Child Preschool Optic Chiasm Optic nerve Evoked Potentials Visual Female sense organs medicine.symptom business Retinal Pigments Tomography Optical Coherence |
| Zdroj: | The British journal of ophthalmology. 90(9) |
| ISSN: | 0007-1161 |
| Popis: | Background/aims: To present the ophthalmological and electrophysiological characteristics of three darkly pigmented, female patients with misrouting and foveal hypoplasia. One of the patients had primary ciliary dyskinesia and situs inversus totalis (Kartagener syndrome). Methods: Fundus photographs were taken and the angles at which the main temporal arterial branches leave the optic nerve head (ONH) were analysed. Optical coherence tomography (OCT) was performed through the presumed foveal region. Pattern onset visually evoked potentials (VEPs) (check sizes 60′, 40/400 ms) were recorded and the chiasmal coefficient was calculated to detect misrouting. Results: Fundus photography showed normally pigmented fundi with absence of the usual foveal hyperpigmentation, foveal avascular zone, and macular and foveal reflexes. On OCT no foveal pit was found. The VEP recordings showed the largest positive CI component over the right hemisphere for the left eye, and over the left hemisphere for the right eye, with the CI almost absent over the ipsilateral hemispheres. The differential derivations showed opposite polarity for the recordings of the two eyes. The chiasmal coefficients of all three patients were significantly indicative of misrouting (−0.99, −0.91, and −0.99, respectively). Conclusion: Based on the investigations in these patients the authors propose the hypothesis that foveal hypoplasia and misrouting exist as a distinct entity, and do not comprise the exclusive hallmark of albinism. The findings suggest that misrouting may exert a retrograde influence on foveal development. |
| Databáze: | OpenAIRE |
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