Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration

Staps, Pippa; Cruysberg, J.R.M.; Roeleveld, Nel; Willemsen, M.A.A.P.; Theelen, Thomas

doi:10.1016/j.oret.2019.01.023

Cited by 8 publications

(8 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Patients with “milder SLS phenotypes” thus appear to suffer from essentially the same clinical syndrome, although to a lesser degree. This is further confirmed by the observation that the retinal abnormalities of patients 1 and 2 were also similar to the classical SLS patients, showing a thinned retina with crystalloid depositions and interruptions of the photoreceptor layer …”

Section: Discussionsupporting

confidence: 76%

“…This is further confirmed by the observation that the retinal abnormalities of patients 1 and 2 were also similar to the classical SLS patients, showing a thinned retina with crystalloid depositions and interruptions of the photoreceptor layer. 22 Applying MRS, lipid accumulation can be demonstrated in cerebral white matter of patients with classic SLS. Remarkably, the spectra of patient 1 did not show the typical resonances reflecting lipid accumulation.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

et al. 2020

Self Cite

View full text Add to dashboard Cite

Sjögren-Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase. Most patients have a clearly recognizable severe phenotype, with congenital ichthyosis, intellectual disability, and spastic diplegia. In this study, we describe two patients with a remarkably mild phenotype. In both patients, males with actual ages of 45 and 61 years, the diagnosis was only established at an adult age. Their skin had been moderately affected from childhood onward, and both men remained ambulant with mild spasticity of their legs. Cognitive development, as reflected by school performance and professional career, had been unremarkable. Magnetic resonance spectroscopy of the first patient was lacking the characteristic lipid peak. We performed a literature search to identify additional SLS patients with a mild phenotype. We compared the clinical, radiologic, and molecular features of the mildly affected patients with the classical phenotype. We found 10 cases in the literature with a molecular proven diagnosis and a mild phenotype. Neither a genotype-phenotype correlation nor an alternative explanation for the

show abstract

Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

et al. 2020

Self Cite

View full text Add to dashboard Cite

show abstract

“…In addition, patients underwent color fundus photography next to transversal and en face SD-OCT. The SD-OCT scans were previously used in an extended study published in 2019 [ 3 ].…”

Section: Case Presentationmentioning

confidence: 99%

“…Seventeen of the 35 invited patients with a classical SLS phenotype agreed to participate in our current study (extension of the study published in 2019 by Staps et al [ 3 ]). In eight of these patients, OCT-A scans could be captured.…”

Section: Case Presentationmentioning

confidence: 99%

“…In a recent study, we observed that disease progression can be divided into 4 stages of SLS maculopathy according to spectral domain optical coherence tomography (SD-OCT) findings [ 3 ]. Stage 1 maculopathy is characterized by a thin and immature structured fovea with lack of macular pigment, apparently reflecting an arrested foveal development around birth, and presence of intraretinal crystals.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy

Staps

Breuk

Cruysberg

et al. 2022

Case Rep Ophthalmol

Self Cite

View full text Add to dashboard Cite

Sjögren-Larsson syndrome (SLS) is a neurometabolic disease with a peculiar crystalline maculopathy. It is yet unclear if vascular abnormalities play a role in SLS maculopathy pathogenesis. We used optical coherence tomography angiography (OCT-A) to search for vessel abnormalities in SLS maculopathy. We performed a cross-sectional study in 4 patients (2 males, 2 females, aged 12–36 years) with various stages of SLS maculopathy. Besides OCT-A imaging, a complete ophthalmological examination and additional retinal imaging by transversal and en face spectral domain (SD) OCT were performed. OCT-A images were qualitatively assessed for vascular abnormalities, and imaging was compared to eight eyes of four healthy controls. On OCT-A, all eyes of patients with SLS showed a reduced capillary density around the fovea, and an enlarged foveal avascular zone (FAZ; SLS patients [n = 6 eyes] mean 0.70 mm2 [SD 0.18]; healthy controls [n = 8 eyes] mean 0.34 mm2 [SD 0.07], p = 0.004). In 2 patients, telangiectatic vessels were seen in the deep capillary layer. In conclusion, OCT angiography showed capillary paucity and morphological vessel abnormalities in these 4 patients with SLS.

show abstract

Macular Telangiectasias

Meirelles

2024

Diseases of the Retina and Vitreous

View full text Add to dashboard Cite

Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration

Cited by 8 publications

References 21 publications

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy

Macular Telangiectasias

Contact Info

Product

Resources

About