Ocular abnormalities in Alagille syndrome11None of the authors has any commercial interest arising from the findings presented in this article
| Autor: | Ken K. Nischal, Anthony Vivian, Alison Davies, Giorgina Mieli-Vergani, Alan C. Bird, Melanie Hingorani, Wagih Aclimandos, Alastair J Baker, Christopher R. Bentley |
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| Rok vydání: | 1999 |
| Předmět: |
medicine.medical_specialty
Visual acuity genetic structures medicine.diagnostic_test business.industry Eye disease Fundus (eye) medicine.disease Fluorescein angiography eye diseases Surgery Microcornea Ophthalmology medicine.anatomical_structure Alagille syndrome medicine sense organs medicine.symptom business Hypopigmentation Optic disc |
| Zdroj: | Ophthalmology. 106:330-337 |
| ISSN: | 0161-6420 |
| DOI: | 10.1016/s0161-6420(99)90072-6 |
| Popis: | Objective To assess the type and frequency of ocular abnormalities occurring in Alagille syndrome (AS) in a large group of affected patients and their parents and the potential pathogenetic role of fat-soluble vitamin deficiency. Design Observational case series. Participants Twenty-two children with AS and 23 of their parents participated. Main outcome measures Participants underwent full ophthalmic examination, including refraction, orthoptic examination, keratometry, slit-lamp examination, and funduscopy. Corneal diameter measurement was performed in a subset of nine and fluorescein angiography in a subset of six. Serum levels of vitamins A and E and cholesterol were measured. Results The most common ocular abnormalities in patients with AS were posterior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigmentation (57%, a previously unreported finding), speckling of the retinal pigment epithelium (33%), and optic disc anomalies (76%). Microcornea was not associated with large refractive errors, and visual acuity was not significantly affected by these ocular changes. Vitamin levels were normal. Ocular abnormalities including posterior embryotoxon, iris abnormalities, and optic disc or fundus pigmentary changes were detected in one parent in 36% of cases. Conclusions Alagille syndrome is associated with a characteristic group of ocular findings without apparent serious functional significance and probably unrelated to fat-soluble vitamin deficiency. Simple ophthalmic examination of children with neonatal cholestatic jaundice and their parents should allow early diagnosis of AS, eliminating the need for extensive and invasive investigations. |
| Databáze: | OpenAIRE |
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