A Stargardt disease-like phenotype in -related primary ciliary dyskinesia.

PURPOSE

Ciliopathies are broadly classified as non-motile or motile (primary ciliary dyskinesia). Early-onset retinal dystrophy is common in non-motile ciliopathy, but retinal dystrophy is not considered a feature of primary ciliary dyskinesia. The subject of this report is woman referred as a case of Stargardt disease who in fact had retinal dystrophy apparently related to -related primary ciliary dyskinesia.

METHODS

Retrospective case report.

RESULTS

A 43-year-old Emirati woman was referred for further evaluation of Stargardt disease. Her only ophthalmic complaints were related to dry eye disease. Past ocular history was significant for refractive surgery in her early 30's. Past medical history was significant for primary ciliary dyskinesia, which included recurrent bronchiectasis and sino-pulmonary infections since childhood. Clinical examination confirmed retinopathy resembling Stargardt disease. Electroretinography revealed cone-rod dysfunction. Whole exome sequencing with attention to was unrevealing for retinal dystrophy genes but did uncover a homozygous deletion, molecularly confirming the diagnosis of primary ciliary dyskinesia. Literature review revealed a report of a 34-year-old North African male with -related primary ciliary dyskinesia who also had been diagnosed with Stargardt disease in the absence of pathogenic variants.

DISCUSSION

Longer follow-up of individuals with primary ciliary dyskinesia may reveal findings more typically associated with non-motile ciliopathy such as retinal dystrophy. -related retinal dystrophy can resemble Stargardt disease.