Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.
OBJECTIVE
To report the ocular manifestations associated with the Sjögren-Larsson syndrome in a series of patients with proven fatty aldehyde dehydrogenase deficiency. To emphasize the clinical importance of the ophthalmological features of the Sjögren-Larsson syndrome. To discuss the metabolic disturbances that might give rise to the ophthalmological picture.


METHODS
Fifteen patients with Sjögren-Larsson syndrome underwent a standardized ophthalmological examination. In patients of appropriate age, and who were able to cooperate, additional investigations were performed.


RESULTS
All patients exhibited bilateral, glistening yellow-white crystalline deposits that were located in the innermost retinal layers and appeared during the first 2 years of life. Repeated fundus photography in individual patients showed that the dots became more numerous as the patients got older. Photophobia, subnormal visual acuity, myopia, and astigmatism were found in most of the patients. Fluorescein angiography was performed in three patients and showed a mottled hyperfluorescence of the retinal pigment epithelium, without leakage. Color vision, electroretinography, and electro-oculography could be performed in only a small number of patients and showed no abnormalities. Visual evoked potentials were found to be abnormal in six of eight patients.


CONCLUSIONS
In Sjögren-Larsson syndrome, patients exhibit highly characteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. The number of dots increases with age. The extent of the macular abnormality does not correlate with the severity of the ichthyosis or with the severity of the neurological abnormalities. A high percentage of patients shows additional ocular signs and symptoms, notably marked photophobia.
Willemsen
M A
MA
Department of Pediatric Neurology, University Hospital Nijmegen, Nijmegan, The Netherlands. m.willemsen@ckskg.azn.nl
Cruysberg
J R
JR
Rotteveel
J J
JJ
Aandekerk
A L
AL
Van Domburg
P H
PH
Deutman
A F
AF
D000293:Adolescent; D000328:Adult; D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D001251:Astigmatism / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000175:diagnosis / Q000201:enzymology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D009216:Myopia / Q000175:diagnosis; D020795:Photophobia / Q000175:diagnosis; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis / Q000201:enzymology*; D014792:Visual Acuity
D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase