Acessibilidade / Reportar erro

Scotopic fast wave retinal dystrophy (SFWRD) associated with loose anagen hair syndrome (LAHS). Part II: Genetics

PURPOSE: To propose the complementation of present classification of the electroretinogram (ERG) with the inclusion of this new kind of wave, to discuss the possible mechanisms for the scotopic fast wave retinal dystrophy (SFWRD) associated with the loose anagen hair syndrome (LAHS) and to analyze the pedigree of the studied family. METHODS: Were described in part I of this study. RESULTS: The pedigree analysis of the family showed to be an autosomal recessive form of inheritance with partial expression in the heterozygote; other results were described in part I of this study. CONCLUSION: Being the first account in the literature, the described finding strongly suggests that scotopic fast wave retinal dystrophy associated with the loose anagen hair syndrome can be a new nosological entity. In this study, we propose an unpublished classification of all macular dystrophies and retinal degenerations associated with hair disorders in group B of ectodermal dysplasias.

Electroretinography; Retinal degeneration; Ectodermal dysplasia; Hypotrichosis; Alopecia; Pigment epithelium of eye


Conselho Brasileiro de Oftalmologia Rua Casa do Ator, 1117 - cj.21, 04546-004 São Paulo SP Brazil, Tel: 55 11 - 3266-4000, Fax: 55 11- 3171-0953 - São Paulo - SP - Brazil
E-mail: abo@cbo.com.br