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Effects of ML4 on the eye

Mucolipidosis type IV (ML4) is an autosomal recessive lysosomal storage disease and is caused by variants of the MC0LN1 gene. It often presents in young individuals with eye and ocular adnexa issues. The authors present a case report and literature...

Profile of presentation, follow-up and management of orbital myositis

This retrospective study reviewed the demographic characteristics of patients with orbital myositis, their clinical profile, management options, outcomes and predictive factors for recurrence. The study included 52 patients (55 eyes; 3% bilateral involvement), 36 females, with mean age at presentation...

Canadian centre experience with ocular cystinosis cases

Ocular cystinosis (OC) is an uncommon recessive genetic disease occurring in about one case per 100–200,000 live births. Patients have accumulation of cystine crystals within tissues. Ocular symptoms include photophobia, blepharospasm, foreign body sensation, retinopathy and visual impairment. Crystals have...

Risks to visual function from blepharokeratoconjunctivitis

This study evaluated the prevalence of blepharokeratoconjunctivitis (BKC) and prevalence of amblyopic risk factors with comparison of these rates to rates in the general US paediatric population. The authors evaluated the rate of patient reported symptoms in patients with and...