A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia

ABSTRACT

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 GAS8-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 ABCA4 was unrevealing for retinal dystrophy genes but did uncover a homozygous GAS8 deletion, molecularly confirming the diagnosis of primary ciliary dyskinesia. Literature review revealed a report of a 34-year-old North African male with GAS8-related primary ciliary dyskinesia who also had been diagnosed with Stargardt disease in the absence of pathogenic ABCA4 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. GAS8-related retinal dystrophy can resemble Stargardt disease.

KEYWORDS:

• Ciliopathy
• retinal dystrophy
• Stargardt disease
• GAS8
• primary ciliary dyskinesia

Disclosure statement

The author reports no conflicts of interest. The author alone is responsible for the content and writing of this article.

Data sharing

The data that support the findings of this study are available from the corresponding author upon reasonable request.

Correction Statement

This article has been republished with minor changes. These changes do not impact the academic content of the article.

Additional information

Funding

The author reported there is no funding associated with the work featured in this article.