Sjögren-Larsson syndrome: case reports of two brothers.
Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited disorder characterized by the triad of congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation. SLS is also often associated with a variety of other anomalies, including signs that are of interest to optometrists and ophthalmologists. Two case histories are presented. Both patients exhibited maculopathies and uncorrected astigmatism. The reduced visual acuities in one case appeared to be caused at least partly by astigmatism and the associated astigmatic amblyopia.
Barnard
N A
NA
Department of Optometry and Visual Science, City University, London, UK.
Patel
C
C
Barnard
R A
RA
D000328:Adult; D000550:Amblyopia / Q000503:physiopathology; D001251:Astigmatism / Q000503:physiopathology; D005190:Family; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D016111:Sjogren-Larsson Syndrome / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D014792:Visual Acuity / Q000502:physiology