Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjogren-Larsson syndrome

Laurentius Ziekenhuis, Roermond, Limburg, Netherlands
American Journal of Ophthalmology (Impact Factor: 3.87). 01/2001; 130(6):782-9. DOI: 10.1016/S0002-9394(00)00576-6
Source: PubMed


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.
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.
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.
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.

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    ABSTRACT: Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjögren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy). The differential diagnosis of retinal crystals also includes primary ocular diseases like Bietti's crystalline retinopathy, calcified macular drusen, idiopathic parafoveal telangiectasis and longstanding retinal detachment. This article will review the most common causes of crystalline retinopathies, their etiologies, pathologies and clinical characteristics.
    International Ophthalmology 02/2001; 24(3):113-21. DOI:10.1023/A:1021189215498 · 0.55 Impact Factor
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    ABSTRACT: Sjögren Larsson syndrome (SLS) is a rare autosomal disorder that is characterised by congenital ichthyosis, spastic diplegia or qudriplegia and mental retardation. It is caused by the deficiency of the enzyme, fatty aldehyde dehydrogenase (FALDH) that is required for the oxidation of fatty alcohol to fatty acid. The metabolism of leukotrine B4 (LTB4) has also been reported to be defective in SLS patients. The gene, ADLH3A2, encoding for FALDH has been localised at 17p11.2 and mutations in it cause SLS. The worldwide frequency of SLS is reported to be less than 1: 100,000 births but rarely a case has been reported from India. This article reviews the genetic factors in SLS and reports a case of SLS from India, with two similarly affected sibs. The management of SLS including genetic counselling and prenatal diagnostic possibilities are also
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