Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.

BACKGROUND: Neuronal ceroid lipofuscinosis is a group of neurodegenerative disorders with varying visual dysfunction. CLN3 is a subtype which commonly presents with visual decline. Visual symptomatology can be indistinct making early diagnosis difficult. This study reports ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future therapy. METHODS: Retrospective review of 5 confirmed CLN3 patients in our eye clinic. Best corrected visual acuity (BCVA), electroretinogram (ERG), ultra-widefield (UWF) fundus photography and fundus autofluorescence (FAF), and optical coherence tomography (OCT) studies were undertaken. RESULTS: Five unrelated children, 4 females and 1 male, with median age of 6.2 years (4.6-11.7) at first assessment were investigated at the clinic from 2016 to 2021. Four homozygous and one heterozygous pathogenic CLN3 variants were found. Best corrected visual acuities (BCVAs) ranged from 0.18 to 0.88 logMAR at first presentation. Electronegative ERGs were identified in all patients. Bull's eye maculopathies found in all patients. Hyper-autofluorescence ring surrounding hypo-autofluorescence fovea on FAF was found. Foveal ellipsoid zone (EZ) disruptions were found in all patients with additional inner and outer retinal microcystic changes in one patient. Neurological problems noted included autism, anxiety, motor dyspraxia, behavioural issue, and psychomotor regression. CONCLUSIONS: CLN3 patients presented at median age 6.2 years with visual decline. Early onset maculopathy with an electronegative ERG and variable cognitive and motor decline should prompt further investigations including neuropaediatric evaluation and genetic assessment for CLN3 disease. The structural parameters such as EZ and FAF will facilitate ocular monitoring.

Successful treatment of infantile haemangiomas of the orbit with propranolol.

BACKGROUND: Propranolol is a novel therapeutic agent in the treatment of cutaneous infantile haemangiomas. We assessed the effect of propranolol therapy in infantile haemangiomas of the orbit. METHODS: A case series of four patients with orbital infantile haemangiomas were referred for management in our tertiary referral hospitals. Two of the patients had inadequate responses to prior corticosteroid therapy. One of the patients was commenced on propranolol at 2.5 years of age when the lesion was not in the proliferative phase. This represented the first case report of propranolol treatment for infantile haemangioma outside infancy. The other three children were in their infancy when propranolol was commenced. The patients were treated with oral propranolol. RESULTS: All patients had significant improvement in their physical appearance, ocular examination findings and size of their lesions on radiological evaluation. No side-effects of propranolol treatment were observed. CONCLUSIONS: Propranolol is a promising treatment against infantile haemangiomas in the orbit, not only in infants but also in an older child with a stable lesion.