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First Author: A.Aziz UK
Co Author(s): C. Claoue
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Leopard syndrome is a systemic disorder with skin and cardiac manifestations. Ocular anomalies have not been well characterised in the literature. We will present a case report and summarise the ocular manifestations.
Ophthalmology outpatient department, District General Hospital, United Kingdom.
We present a 46 year old Caucasian female with multiple lentignes and cardiomyopathy, diagnosed with Leopard syndrome. LEOPARD is an acronym for the condition that includes: multiple Lentignes, ECG conduction anomalies, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness and has an autosomal dominant trait. There are around 200 reported cases worldwide however the real incidence has not been assessed. There has been no update on intraocular manifestations since 1979 where 3 cases of cataract and Leopard syndrome were reported. This case was noted to have bilateral early cataract at a routine optometrist attendance.
A 46 year old Caucasian female with multiple lentignes was diagnosed with Leopard syndrome. The visual acuity was LogMAR 0.16 in the right eye and LogMAR 0.36 in the left eye. Slit lamp biomicroscopy revealed bilateral cataract. No other remarkable findings were noted on full ophthalmic examination; notably hypertelorism was not a feature.
There is likely to be an under diagnosis of Leopard Syndrome as features may be mild and present without Lentiginosis. Leopard syndrome may be associated with early cataract. The presence of early cataract may aid in the diagnosis of Leopard syndrome and ophthalmologists should be more aware of this syndrome.