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Arquivos Brasileiros de Oftalmologia

versão impressa ISSN 0004-2749versão On-line ISSN 1678-2925

Arq. Bras. Oftalmol. vol.81 no.5 São Paulo set./out. 2018 


Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report

Achados oftalmológicos na displasia ectodérmica, ectrodactilia e síndrome da distrofia macular: relato de caso

Alexis Galeno Matos1 

Viviane Pinho Gurgel1 

Pedro Javier Yugar1 

Alejandro Sebastian Yugar2 

1Fundação Leiria de Andrade, Fortaleza, CE, Brazil.

2Fundación Barceló, Buenos Aires, Argentina.


We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.

Keywords: Ectodermal dysplasia/genetics; Syndactyly; Alopecia; Retina/abnormalities; Retinal dystrophy; Hand deformities, congenital/genetics; Syndrome


Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante de baixa acuidade visual associado à distrofia retiniana em ambos os olhos associado à alopecia e alterações ósseas ou sindactilia.

Descritores: Displasia ectodérmica/genética; Sindactilia; Alopecia; Retina/anormalidades; Distrofia retiniana; Deformidades congênitas da mão/genética; Síndrome


In 1956, Albrectsen and Svendsen described two siblings of consanguineous parents presenting with syndactyly, sparse hair, and retinal degeneration with normal psy­chomotor development(1).

Ectodermal dysplasia, ectrodactyly, and macular dys­trophy (EEM) syndrome results from mutation of the CDH3 gene (MIM 114021), which decodes the classical P-cadherin molecule(2). Cadherins are integral membrane glycoproteins responsible for calcium-dependent intercellular adhesion wherein the CDH3 protein manifests in a variety of tissues, including follicular capillaries, retinal pigment epithelium, and limb development(3,4).

EEM syndrome is characterized by scarce hair at birth with little growth during the patients’ life, and some patients may have dental anomalies. Limb malformations may present significant phenotypic variability among previously reported cases(5,6). Macular dystrophy develops with significant progressive loss of visual acuity between the ages of 16 and 20 years(6).

Fundoscopy may not show clinically visible changes early in the course of EEM syndrome, yet it progresses with deterioration of the retinal pigment epithelium and atrophic areas in the macular region. In addition, middle periphery hyperpigmentation, white deposits, and an orange peel appearance may be observed. Electroretinographic scans may show reduced wave amplitude, revealing retinal dysfunction, and electrooculogram de­monstrates normal values. In addition, the vessels, optic disc, and peripheral retina(7,8).


Case 1 (#1 heredogram)

A 15-year-old girl with consanguineous parents presented with low visual acuity. An ophthalmologic examination demonstrated acuity 20/100 (-5.00 sph) and 20/150 (-5.75 sph). Dry eye was diagnosed with positive Schirmer test (8 mm) along with decreased BUT in both eyes. Fundoscopy demonstrated pigmentary alteration in the macular region of both eyes. During anamnesis, the patient reported hair loss since childhood, for which she wore a wig, in addition to a procedure for corrective repair of syndactyly between 2º and 3º for right chirodactyl (Figures 1 and 2).

Figure 1 Case 1: Macular dystrophy. 

Figure 2 Case 2: Macular dystrophy. 

Case 2 (#3 heredogram)

A female child aged 9 years, the sister of patient 1, presented with low visual acuity of 20/80 (LP) in the right and 20/100 (LP) in the left eye. We performed biomicroscopy and tonometry with no observed changes, and no signs of dry eye were diagnosed. Fundoscopy revealed hypopigmented macular lesions in both eyes with capillary rarefaction and syndactyly between the second and third pododactyls (Figures 3 and 4).

Figure 3 Case 1: Alopecia and ectrodactyly. 

Figure 4 Case 2: Alopecia and ectrodactyly 


EEM syndrome is an autosomal recessive disease requiring a copy of the defect among the parents of the affected individual with a high incidence in blood relatives(9).

The CDH3 gene encoding the P-cadherin protein contains 16 exons on human chromosome 16q22.1(2), and it is known that the mutation contains the intragenic deletion of exons 12 and 13, resulting in continuous transcription of exon 11 to exon 14 and, while maintaining the structure, loss of functionality occurs in the future protein(10). In addition, CDH3 gene mutations are also responsible for hypotrichosis associated with juvenile macular dystrophy and may represent phenotypic heterogeneity of the same syndrome(11,12). Both conditions are similarly associated with thin and sparse hair accompanied with macular dystrophy; however, individuals with EEM develop malformations of the hands and feet(11,13).

In the cases presented, the changes in patient 1, such as hypotrichosis and macular dystrophy, are more evident. Optical coherence tomography revealed macular alterations. The patient underwent corrective surgery for syndactyly. Patient 2, who was younger, presented a milder but evolving condition after 2-year follow-up assessment where the syndactyly was not corrected. In addition, electroretinogram is not available in our city, but the retinal findings were characteristic of the dystrophy reported in the literature.

Only the older sister was diagnosed with signs of dry eye, perhaps because her alopecia and retinal symptoms were more severe or her younger sister had not yet presented.

The patients reported similar alterations in their de­ceased sister (#2 heredogram), who died because of unknown causes; their brother did not have alterations. Both of our patients were referred for dermatological follow-up. This ophthalmologic pathology, for which no available treatment can control the evolution of low visual acuity, may lead to bilateral blindness.


Funding: No specific financial support was available for this study.


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Recebido: 29 de Janeiro de 2018; Aceito: 27 de Maio de 2018

Corresponding author: Alexis G. Matos Hospital de Olhos Leiria de Andrade. Rua Rocha Lima, 1140 - Fortaleza, CE - Brasil E-mail:

Disclosure of potential conflicts of interest: None of the authors have any potential conflicts of interest to disclose.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited