The brother exhibited minimal symptoms, having mild bilateral syndactyly between fingers 1, 2, 3, and 4 and small, widely spaced teeth, but an unremarkable ophthalmologic and hair examination. REFERENCES Albergaria, A., Ribeiro, A. [ncbi.nlm.nih.gov]

The hair phenotype does not improve significantly with age, even though diffuse alopecia in infancy can evolve towards short and sparse hair in puberty. Etiology HJMD is caused by mutations in the CDH3 gene (16q22.1), encoding P-cadherin. [orpha.net]

Retinal dystrophy combined with alopecia. Acta Ophthalmol (Copenh). 1975;53:781–9. CrossRef Google Scholar 3. Balarin Silva V, Simoes AM, Marques-de-Faria AP. EEM syndrome: report of a family and results of a ten-year follow-up. [link.springer.com]

Smith MA, Wells RS: Male-type alopecia, alopecia areata, and normal hair in women; family histories. Arch Dermatol 1964;89:95-98. [karger.com]

2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

Entry H00785 Disease Name Congenital hypotrichosis with juvenile macular dystrophy Description Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated [genome.jp]

HJMD has been described as macular degeneration and short sparse scalp hair from birth with hair loss during the first months of life [ 5 ]. The retinal phenotype is nowadays being re-evaluated. [bmcmedgenet.biomedcentral.com]

B, fundus photography of her left eye showing patchy areas of atrophy and hyperpigmentation in the macular area. [iovs.arvojournals.org]

In addition, macular hyperpigmentation was present as detected by photographic fluorescein angiogram and color fundus photography. [karger.com]

We put forward arguments for locating the retinal alteration at the level of the retinal pigment epithelium and suggest that the hair disorder could be a Marie-Unna type hypotrichosis. [ncbi.nlm.nih.gov]

Moreover, P-cadherin is expressed in the retinal pigment epithelium. Diagnostic methods Diagnosis is based on the combined occurrence of hypotrichosis with characteristic degenerative changes and pigmentary abnormalities of the macula on fundoscopy. [orpha.net]

Optical coherence tomography (OCT) demonstrated variable degrees of atrophy of the outer retina, retinal pigment epithelium, and choroid, with outer retinal tubulations frequently observed. [ndcn.ox.ac.uk]

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. [iovs.arvojournals.org]

D, Left visual field showing extensive central scotoma (the findings are similar in the right eye). Figure 2. Mutation screening. A, Schematic diagram of the genomic structure of CDH3. Boxes indicate exons; lines, introns; and bp, base pairs. [jamanetwork.com]

VA: 0.08/0.1 (5years) VF: central scotomae BE Macular alteration with spicules BE NA NA 10year NA NA Abnormal RE: scotopic: normal, cones response: lower limit of normality. LE: moderate decline of all responses 12years VA 0.15/0.15. [bmcmedgenet.biomedcentral.com]

A decade later, during the first to third decades of life, visual acuity decreases because of progressive macular degeneration, leading in many cases to blindness between the second and fourth decades of life. [orpha.net]

Visual acuity decreases slowly in spite of significant deterioration of cone- and rod-mediated retinal function. [disorders.eyes.arizona.edu]

Lip/Palate Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate (EEC) Syndrome 1 Focal Dermal Hypoplasia / Goltz Syndrome Focal Facial Dermal Dysplasia 1, Brauer Type Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type Focal Facial Dermal Dysplasia [nfed.org]

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. [iovs.arvojournals.org]

D, Left visual field showing extensive central scotoma (the findings are similar in the right eye). Figure 2. Mutation screening. A, Schematic diagram of the genomic structure of CDH3. Boxes indicate exons; lines, introns; and bp, base pairs. [jamanetwork.com]

VA: 0.08/0.1 (5years) VF: central scotomae BE Macular alteration with spicules BE NA NA 10year NA NA Abnormal RE: scotopic: normal, cones response: lower limit of normality. LE: moderate decline of all responses 12years VA 0.15/0.15. [bmcmedgenet.biomedcentral.com]