advertisement
Abstract #59453 Published in IGR 16-3
Cataract and Glaucoma Development in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)
Nielsen AK; Drack AV; Ostergaard JROphthalmic Genetics 2014; 0: 1-4
BACKGROUND: Ophthalmologic studies of Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) have focused mainly on retinal involvement, and so far no anterior segment abnormalities have been described. In the present study, we report the findings of pre-senile cataract in five patients with JNCL. Material and METHODS: Our sample consisted of 35 patients (19 males, 16 females) with JNCL associated to the Centre for Rare Disease, Aarhus University Hospital. They represent all patients with JNCL born in Denmark in the period 1971-2003. At the half-yearly routine outpatient visits, the anterior section was examined by ordinary penlight without instillation of a mydriatic, and if abnormalities such as cataracts were detected or suspected, the patients were referred for an ophthalmologic examination including slit lamp examination. Follow up was obtained on all patients referred for ophthalmologic examination. RESULTS: During the study period (1996-2012), five patients were identified with cataract. The patients' average age at detection of cataract was 20.1 + 1.6 years (mean + 2SD). Two of the five patients developed acute glaucoma, and in one case prophylactic cataract surgery was performed. CONCLUSIONS: Cataract formation and a secondary acute glaucoma are complications in JNCL which do occur. We recommend that a complete ophthalmological examination of the anterior segment should be performed routinely in patients with JNCL beyond the age of 16 years of age in order to prevent a painful and harmful acute glaucoma which may occur due to mature cataract formation.
Department of Paediatrics A, Aarhus University Hospital , Aarhus , Denmark .
Full articleClassification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
9.4.4.2 Glaucomas associated with cataracts (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.4 Glaucomas associated with disorders of the lens)