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Shaza Al-Holou, Samiksha Jain, William B Rizzo, Donny W Suh; Longitudinal ophthalmic follow up in two patients with Sjögren-Larsson Syndrome. Invest. Ophthalmol. Vis. Sci. 2017;58(8):1496.
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© ARVO (1962-2015); The Authors (2016-present)
Sjögren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by ichthyosis, spasticity, intellectual disability, and a distinctive crystalline maculopathy. The disease is caused by mutations in ALDH3A2 and is associated with deficient fatty aldehyde metabolism. We sought to characterize the longitudinal ophthalmic changes in two SLS patients after 3 years follow up.
SLS patients were enrolled in a longitudinal natural history study conducted by the Sterol and Isoprenoid Research Consortium (NICHD/NCATS). Patients who had color fundus photography at more than one visit were included in this study. Color fundus photography and fluorescein angiography were performed using the P-200Tx (Optos, Dunfermline, Scotland) and the Visucam (Zeiss, Jena, Germany) machines. Ocular coherence tomography (OCT) was performed using Spectralis HRA-OCT (Heidelberg Engineering).
Patients 1 and 2 were initially examined at ages 19 years and 16 years, respectively, and again after 3 years in 2016. Both patients were found to be myopic and photophobic on clinical presentation. Dry eye was noted in Patient 1, and punctate epithelial erosions were detected on examination of Patient 2. Color fundus photography identified multifocal crystalline retinal deposits in the parafoveal region bilaterally in both patients at initial exam, and did not increase in either patient after 3 years follow up. Also, visual acuity remained stable in both patients. OCT and fluorescein angiography were also performed on Patient 2 at his first visit. OCT revealed macular crystals localized to the inner plexiform, inner nuclear, and outer plexiform layers, as well as the nerve fiber layer. Foveal retinal atrophy was present bilaterally. Fluorescein angiography demonstrated window defects and crystals without the presence of leakage or an enlarged foveal avascular zone.
The macular crystalline inclusions seen in our patients are considered a pathognomonic feature of SLS. Although they first appear during early-mid childhood, our two older cases do not demonstrate progression of the crystalline deposits after 3 years. The need for longitudinal investigation of ophthalmic findings in SLS is imperative to further understand the natural history of the retinal disease.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
Characteristic crystalline maculopathy in Patient 1 at first visit
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