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Maya Bitar, Behrad Yousefi Milani, Renan Ferreira Oliveira, Nathalie F Azar, Juliana Ferraz Sallum, Irene H Maumenee; A Rare Syndrome: Hypotrichosis with Juvenile Macular Dystrophy (HJMD). Invest. Ophthalmol. Vis. Sci. 2014;55(13):6424.
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© ARVO (1962-2015); The Authors (2016-present)
HJMD is a rare autosomal recessive syndrome caused by mutation in CDH3, a gene that encodes for P-cadherin expressed in hair follicles and retinal pigment epithelium (RPE). There are rare reports in the literature, mostly in dermatology journals with little emphasis on ocular findings. The purpose of our study is to report our observations on three Brazilian patients with this syndrome including results of extensive ophthalmic testing and DNA analysis.
Patients underwent comprehensive clinical examination. Fundus photography, ocular coherence tomography (OCT), Goldmann visual fields (GVF), electroretinography (ERG), electrooculography (EOG), and Sanger DNA sequencing were performed.
All three patients developed neonatal hair loss by 3 months of age. One also had cleft lip and palate. Decreased acuity and impaired color vision were noticed in their teens in two siblings and as early as five years in the third patient. Fundus examination revealed patchy areas of atrophy and hyperpigmentation, in the macular area. OCT showed an irregular RPE. GVF found rapidly progressive central scotomas; the ERG showed reduced photopic and scotopic responses; Arden ratios were inferior to 1.8. DNA sequencing excluded the previously described mutation in exon 7 of CDH3 gene.
HJMD mimics other macular dystrophies like Stargardt disease and leads to blindness in the second decade of life. Multiple mutations were published. Further DNA sequencing is underway to identify the mutation in our patients. This is the first report of HJMD in people from South America and the first to show anatomic pathologic correlation by OCT imaging. Neonatal hair changes should alert clinicians to the need of ophthalmic evaluation.
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