PURPOSE: To describe the ophthalmological findings of a new macular dystrophy associated with loose anagen hair syndrome (LAHS). METHODS: Eleven patients of the same family, four of whom presented ocular abnormalities, were examined. Seven patients were submitted to the following examinations: a complete ophthalmological examination, color test, ultrasonography, angiography, visual field, optic disc topography, electro-oculogram (EOG), electroretinogram (ERG), laboratory and dermatological tests, sweat testing, light microscopy (LM) and scanning electron microscopy (SEM) of the scalp hair. In four patients, children of affected, examination was restricted to an ophthalmological examination and light microscopy and the scanning electron microscopy of the scalp hair. RESULTS: Of the four affected patients, two affected sisters showed pigmentary dispersions in the posterior pole of the retina with macular coloboma. Two brothers showed pigmentary dispersions in the posterior pole, with greater pigmentation and a yellowish aspect of the macular area without coloboma. The results of the ectro-oculogram and electroretinogram were within normal limits in three patients without ocular abnormalities. Whereas, electro-oculogram was subnormal and electroretinogram was subnormal with short implicit time (fast) in the scotopic phase of the patients with the macular dystrophy, suggesting that the site of this dystrophy is at the level of the retinal pigment epithelium. Due to this peculiar behavior of the implicit time of the wave, such finding can be considered as fundamental to make the diagnosis of this dystrophy. The denomination could be scotopic fast wave retinal dystrophy (SFWRD). Light microscopy and scanning electron microscopy of scalp hair confirmed the loose anagen hair syndrome. CONCLUSIONS: We describe the findings of scotopic fast wave retinal dystrophy associated with the loose anagen hair syndrome, dystrophy whose fundoscopy findings differ between men and women and with characteristic electroretinographic tracing.
Macular degeneration; Hair diseases, Syndrome; Coloboma; Microscopy, electron, scanning; Microscopy, electron; Electroretinography
