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The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report
Khalid Al Zubi1, Nesrin Mwafi2, Hamzeh Mohammad Alrawashdeh3
1Special Surgery Department, Faculty of Medicine, Mutah University, Al-karak, Jordan.
Insights
Pathogenic variants in the Cadherin 3 (CDH3) gene cause rare genetic disorders like Hypotrichosis with Juvenile Macular Dystrophy (HJMD). This study confirms HJMD in a Jordanian patient via whole-exome sequencing, identifying a novel CDH3 gene mutation.
Area of Science:
- Genetics
- Ophthalmology
- Dermatology
Background:
- Pathogenic variants in the Cadherin 3 (CDH3) gene are linked to rare autosomal recessive disorders: Hypotrichosis with Juvenile Macular Dystrophy (HJMD) and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEMS).
- These disorders manifest with hypotrichosis (sparse hair) and progressive macular dystrophy, affecting vision.
- The CDH3 gene encodes P-cadherin, crucial for cell adhesion, and is expressed in retinal pigment epithelium and hair follicles.
Observation:
- A 23-year-old female patient from Jordan presented with poor vision and sparse scalp hair.
- Ophthalmological examination revealed macular dystrophy in both eyes.
- Clinical suspicion of HJMD prompted genetic analysis.
Findings:
- Whole-exome sequencing (WES) was performed on the patient's genomic DNA.
- A homozygous frameshift deletion (p.Gly277AlafsTer20) in exon 7 of the CDH3 gene was identified.
- This genetic finding confirmed the diagnosis of HJMD.
Implications:
- Progressive macular degeneration leading to blindness is a significant feature of syndromic recessive disorders like HJMD.
- Ophthalmologists must consider systemic symptoms and utilize genetic testing for accurate HJMD diagnosis.
- This case highlights the importance of genetic diagnostics in rare inherited eye diseases.
Background:
Pathogenic variants in the Cadherin 3 (CDH3) gene are responsible for the occurrence of Hypotrichosis with Juvenile Macular Dystrophy (HJMD) and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEMS), both of which are rare autosomal recessive disorders characterized by hypotrichosis and progressive macular dystrophy. The CDH3 gene encodes for P-cadherin, a calcium-binding protein that is essential for cell-cell adhesion, which is expressed in the retinal pigment epithelial cells and hair follicles.
Materials And Methods:
Fundus examination of both eyes was done in addition to clinical investigation. Genomic DNA was extracted from a whole-blood sample and whole-exome sequencing (WES) was performed to identify the underlying etiology.All identified variants were evaluated for their pathogenicity and causality.
Results:
We present the first case of HJMD in a 23-year-old female patient from Jordan. The patient presented to our ophthalmology clinic with poor vision in both eyes. Gross examination revealed sparse scalp hair along with macular dystrophy on fundus exam in both eyes. HJMD was suspected and whole-exome sequencing (WES) confirmed the diagnosis with the identification of a homozygous frameshift deletion (p.Gly277AlafsTer20) localised in exon 7 of the CDH3 gene.
Conclusion:
Blindness due to progressive macular degeneration is a common manifestation in numerous syndromic recessive disorders such as HJMD. Ophthalmologists should consider the importance of systemic manifestations and genetic testing for the confirmation of diagnosis.
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