The markedly anomalous hair growth should lead to a retinal examination by school entry at the latest, since weak vision will not necessarily be detected in the course of normal medical check-ups. Confirmation of a diagnosis, which is necessary for any future therapeutic options, is only possible by means of a molecular genetic diagnosis in the context of genetic counseling. Examination method The extent of retinal damage is assessed by fluorescent angiography, retinal scanning and optical coherence tomography; electrophysiological examinations such as electroretinography (ERG) or multifocal electroretinography (mfERG) may also be used. File:Autofluoreszenz_5Jahre.Fluorescent angiogram of a 5-year-old boy with HJMD File:OCT_5Jahre.Optical coherence tomography of a 5-year-old boy with HJMD File:Funduskopie_Links_5Jahre.Fundoscopy, left eye of a 5-year-old boy with HJMD File:Funduskopie_Rechts_5Jahre.Fundoscopy, right eye of a 5-year-old boy with HJMD Differential diagnosis Anomalies of the hair shaft caused by ectodermal dysplasia should be ruled out. Mutations in the CDH3 gene can also appear in EEM syndrome.
Hypotrichosis with juvenile macular dystrophy
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