Patients with Sjögren-Larsson syndrome lack macular pigment.
OBJECTIVE
Sjögren-Larsson syndrome (SLS), an autosomal recessive hereditary disorder with congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation, reveals a characteristic macular dystrophy with intraretinal crystals and foveal pseudocysts. Ophthalmic symptoms in SLS are reduced visual acuity and photophobia. This article reports the deficiency of macular pigment as a novel finding in this peculiar, congenital maculopathy.


METHODS
Cross-sectional, observational case study.


METHODS
Patients with clinically and genetically proven SLS.


METHODS
Besides general ophthalmologic examination, 2 different methods were used, fundus autofluorescence (FAF) and fundus reflectometry with the macular pigment reflectometer (MPR), for measuring macular pigment (MP).


METHODS
Distribution profiles and quantity of MP in eyes of SLS patients.


RESULTS
Twenty-eight eyes of 14 patients were included. The technique to measure MP depended on the ability of the mentally handicapped patients to cooperate. Fundus autofluorescence images providing qualitative estimates were obtained from 9 eyes of 5 patients, and MPR measures providing quantitative estimates were obtained from 19 eyes of 10 patients. Fundus autofluorescence images of SLS patients lacked the typical attenuation of macular FAF signal expected in normal eyes. Mean foveal MP levels measured by MPR showed significantly lower values in SLS patients (0.10+/-0.07) than in healthy individuals (0.69+/-0.17; P<0.001, Student t test).


CONCLUSIONS
The group of SLS patients studied here had significantly reduced levels of foveal MP. The crystalline macular dystrophy in SLS seems to be the first known disease with a genetically caused deficiency of MP.
van der Veen
Rob L P
RL
University Eye Clinic, Maastricht, The Netherlands.
Fuijkschot
Joris
J
Willemsen
Michèl A A P
MA
Cruysberg
Johannes R M
JR
Berendschot
Tos T J M
TT
Theelen
Thomas
T
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D014975:Lutein / Q000172:deficiency*; D008266:Macula Lutea; D008268:Macular Degeneration / Q000378:metabolism*; D008297:Male; D009887:Ophthalmoscopy; D016111:Sjogren-Larsson Syndrome / Q000235:genetics / Q000378:metabolism*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D024341:Xanthophylls / Q000172:deficiency*; D055815:Young Adult; D065146:Zeaxanthins
D024341:Xanthophylls; D065146:Zeaxanthins; D014975:Lutein