April 2014
Volume 55, Issue 13
ARVO Annual Meeting Abstract  |   April 2014
Retinal Findings in Patients with Sjogren-Larsson Syndrome (SLS)
Author Affiliations & Notes
  • Loren S Jack
    Ophthalmology, University of Nebraska Medical Center, Omaha, NE
  • Eyal Margalit
    Ophthalmology, University of Nebraska Medical Center, Omaha, NE
    Ophthalmology, VA Nebraska-Western Iowa Health Care System Home, Omaha, NE
  • Footnotes
    Commercial Relationships Loren Jack, None; Eyal Margalit, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 1420. doi:
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      Loren S Jack, Eyal Margalit; Retinal Findings in Patients with Sjogren-Larsson Syndrome (SLS). Invest. Ophthalmol. Vis. Sci. 2014;55(13):1420.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: Characterize the retinal findings in a case series of patients with SLS

Methods: SLS is an autosomal recessive disease due to a deficiency of the microsomal fatty aldehyde dehydrogenase enzyme. Previous literature describing retinal findings and imaging studies are limited. To characterize retinal findings, 9 patients with SLS were evaluated by the department of genetics and metabolism at the University of Nebraska Medical Center and referred to the vitreoretinal service at the Truhlsen Eye Institute for characterization of the ophthalmic manifestations of SLS. After obtaining institutional review board approval, a comprehensive ophthalmologic exam, color fundus photography, macular optical coherence tomography (mOCT), fluorescein angiography (FA), electroretinography (ERG), and fundus autofluorescence (FAF) were attempted on all patients.

Results: Patient age ranged from 3 to 23 years. All patients complained of photophobia and ichthyosis. VA ranged from 20/30-20/80 with a mean of 20/57. VA did not significantly differ between eyes of the same patient. Refractive error, as measured by CRx, was near emmetropia. IOP ranged from 15-19 mmHg with a mean of 16.4. Anterior slit lamp exam was within normal limits in all patients, except for ichthyosis of the upper eyelids. Cup to disc ratio ranged from 0.3-0.7, with a mean of 0.4. Macular crystalline deposits were evident in 9 of 9 patients (100%) on exam and color fundus photography. Retinal atrophy was present in 5 of 9 patients (56%). mOCT was able to be completed in 8 patients, 6 of whom showed reduced macular thickness (75%). FA images of sufficient quality were successfully obtained from 2 patients, showing window defects of the central macula without leakage. FAF was obtained in 4 patients with all 4 demonstrating heterogeneous hyper- and hypo-autofluorescence of the macula with crystals. Full-field ERG was successfully performed on 2 patients, disclosing a mildly depressed waveform in scotopic/photopic lighting and 30 Hz flicker.

Conclusions: Patients with SLS in this study have photophobia and incur a moderate, stationary, reduction of vision, typically in the 20/50-20/60 range. Anterior segment findings, pupillary examination, and the intraocular pressure appear to be within normal limits, with the exception of ichthyosis of the eyelids. The extent of the crystalline deposits does not correlate with visual acuity. The ERG is mildly-moderately reduced.

Keywords: 592 metabolism • 688 retina  

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