Significance of Multimodal Imaging in Diagnosis of HJMD

Agrima Bhatt, Rajasthan University

What is HJMD?

HJMD or Hypotrichosis with macular dystrophy is an autosomal syndrome commonly found in young children. It is caused by a mutation in a gene CDH3, responsible for encoding a protein in hair follicles, and the retinal pigment epithelium (RPE). CDH3 encodes a glycoprotein known as P-cadherin, found at the adhesion joints of an epithelium such as hair follicles or retinal epithelium. Due to the mutation in CDH3, it may cause deficiency of the glycoprotein leading to abnormal hair, and abnormal cell development in the retina by the interference of the β-catenin system.

Symptoms vary from person to person but the common features include loss of hair at an early age along with impaired vision. This syndrome mimics dystrophies like Stargardt disease which can lead to blindness in the teenage years of a person’s lifetime. 

Diagnosis of the disease:

Traditional diagnosis can be tough for physicians since it includes common symptoms like hypotrichosis with abnormal hair growth and abnormalities in the fovea of the eye. Commonly used methods are light microscopy and scanning electron microscopy, which sometimes can be false since it only reveals physical deformities. Histopathological studies are also one such way to examine deformities in hair follicles through biopsy of the scalp. However, most of these examinations are time intensive and cannot provide conclusive evidence at the early stages. It requires a multi-disciplinary follow-up after the initial examination which is not only a costly process but also requires a high level of machinery for treatment.

Multimodality Imaging – A Diagnostic Tool:

In cases where the origin of maculopathy remains unknown, novel techniques are required for a faster and effective diagnosis. Multimodal imaging techniques have come up for diagnostic help in one such case of an 11-year-old boy, where he was diagnosed with HJMD. Multimodal imaging techniques such as MRI and CT scans are proven to be reliable tools for evaluation. 

OCT-A i.e., Optical Coherence Tomography Angiography is a novel development in imaging techniques. It is especially useful to treat serious eye diseases and retinal infections. To explain its methodology more thoroughly, it is a test where it utilizes light waves to capture the image of the retina in a 3-dimensional scan. It identifies the different thickness layers of a retina and captures the image for better visualization. It captures the map of your eye in very little time (5-10 seconds). Although it is a bit expensive, OCT-A provides a relatively quicker approach. 

OCT-A to the rescue:

To date, 8 cases have been proven to contain HJMD with the help of OCT-A and fundus photography followed by genetic testing of patients. In the case of an 11-year-old child, OCT-A examination was found to be extremely important to map out the presence of a fibrovascular network. This was found to be helpful to avoid any invasive tests such as traditional fluorescein angiography. 

It was observed that advanced techniques of multimodal imaging were found to be important especially in cases of genetic retinal dystrophies. Such diseases have a high chance to progress into blindness and permanent dysfunctionality of the eye if not diagnosed at early stages. 

Also read: Breastfeeding and cardiovascular diseases-are they linked?

Reference:

1.  Scalzo, G. C., Carnevali, A., Piccoli, G., Ceravolo, D., Bruzzichessi, D., Iuliano, R., Tallerico, R., Gatti, V., Giannaccare, G., & Scorcia, V. (2021). Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report. BMC Ophthalmology, 21(1). https://doi.org/10.1186/s12886-021-02037-8

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Author info:

Agrima Bhatt is an undergraduate student studying BSc. Biotechnology in Jaipur, Rajasthan. She is a science and research enthusiast who also loves to write articles and short snippets.

Some of her published articles at BioXone are:

1. https://bioxone.in/news/worldnews/molecular-mechanisms-underlying-virescent-mutation-in-cotton/
2. https://bioxone.in/news/worldnews/multi-angle-projection-microscope-a-novel-imaging-technique/
3. https://bioxone.in/news/worldnews/scientists-develop-novel-cholera-vaccine-from-rice-grains/
4. https://bioxone.in/news/worldnews/ai-predicts-the-relation-between-viruses-and-mammals/