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

Autor: August F. Deutman, Peter H. M. F. Van Domburg, Albert L. Aandekerk, Johannes R.M. Cruysberg, Michèl A.A.P. Willemsen, Jan J. Rotteveel
Rok vydání: 2000
Předmět:
Adult
Male
medicine.medical_specialty
Pathology
Visual acuity
genetic structures
Photophobia
Adolescent
Fundus Oculi
Visual Acuity
Klinische evaluatie van neuro-ophthalmologische aandoeningen
Macular Degeneration
Ophthalmology
medicine
Electroretinography
Myopia
Humans
Fluorescein Angiography
Child
Pathofysiologisch onderzoek bij het Sjögren-Larsson syndroom
Sjögren–Larsson syndrome
medicine.diagnostic_test
business.industry
Neuromusculaire en neurometabole aandoeningen
Fundus photography
Clinical evaluation of neuro-ophthalmological disease
Astigmatism
Infant
Macular dystrophy
Macular degeneration
medicine.disease
Fluorescein angiography
Aldehyde Oxidoreductases
eye diseases
Sjogren-Larsson Syndrome
Neuromuscular and neurometabolic disorders
Child
Preschool
A pathophysiological study in the Sjögren-Larsson syndrome
Evoked Potentials
Visual
Female
medicine.symptom
business
Metabolism
Inborn Errors
Retinopathy
Zdroj: American Journal of Ophthalmology, 130, 6, pp. 782-789
American Journal of Ophthalmology, 130, 782-789
ISSN: 0002-9394
Popis: PURPOSE: To report the ocular manifestations associated with the Sjogren-Larsson syndrome in a series of patients with proven fatty aldehyde dehydrogenase deficiency. To emphasize the clinical importance of the ophthalmological features of the Sjogren-Larsson syndrome. To discuss the metabolic disturbances that might give rise to the ophthalmological picture. METHODS: Fifteen patients with Sjogren-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 Sjogren-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.
Databáze: OpenAIRE
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