Subclinical Changes in the Juvenile Crystalline Macular Dystrophy in Sjögren–Larsson Syndrome Detected by Optical Coherence Tomography
Received 10 February 2007; received in revised form 22 May 2007; accepted 29 May 2007. published online 10 September 2007.
Purpose
To study morphologic changes in the macula by optical coherence tomography (OCT) in patients with a crystalline macular dystrophy due to the autosomal recessive neurocutaneous Sjögren-Larsson syndrome (SLS).
Design
Retrospective observational case series.
Participants
Twenty-seven eyes of 14 patients, mean age 14.6 (range, 3–24) years, with biochemically and genetically proven SLS underwent clinical and OCT investigation between September 2004 and September 2006.
Methods
All patients underwent full ophthalmologic examination including slit-lamp biomicroscopy and binocular ophthalmoscopy. Optical coherence tomography of all eyes was performed using the macular thickness map protocol of Stratus OCT.
Main Outcome Measures
Macular morphology in clinical examination and OCT.
Results
Beside clinically visible perimacular crystalline deposits in all eyes of all study participants, macular morphology and reflectivity were significantly changed on OCT compared with healthy eyes. We found focal hyperreflectivities in all study eyes within the perifoveal ganglion cell layer and the inner plexiform layer, corresponding to the clinical localization of retinal crystals. More interestingly, a cystoid foveal degeneration on OCT was present in the majority of patients with SLS (18/27 eyes, or 67% of all eyes studied), varying from multiple microcystoid spaces to cystoid foveal atrophy. In general, patients who were severely affected on OCT showed intense changes on previously performed cerebral magnetic resonance spectroscopy.
Conclusions
Patients with SLS show a childhood-onset crystalline macular dystrophy with cystoid foveal atrophy on OCT in most cases. The intraretinal deposition of lipid metabolites may lead to Müller cell degeneration with subsequent formation of cystoid spaces or atrophic changes within the fovea. Because this macular dystrophy is present in all examined patients with SLS, familiarity with this maculopathy seems important for the diagnosis of this rare systemic disease.
Available online: September 12, 2007.
1Department of Pediatric Neurology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands.
2Department of Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands.
Correspondence to Thomas Theelen, MD, PhD, Department of Ophthalmology (400), Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, Netherlands.
Manuscript no. 2007-190.
The authors have no commercial or proprietary interest in the products or companies mentioned in the article.
ABSTRACT