Aditya jyot prof Dr. N S Sundaram genetic eye clinic

Abstract

Aditya Jyot Prof Dr N S Sundaram genetic eye clinic was inaugurated in January 2017. The clinic offers primary diagnostic procedures, diagnosis, and genetic counselling by well-trained Ophthalmologists, Optometrists, and clinical research coordinators. As we all know that the eye plays a vital role in human genomics. According to the World Health Organization (WHO), genetic eye disorders are one of the leading causes of visual impairment worldwide in adults as well as in infants.[1] Unlike any other organ of the body, direct visualization of genetic phenomena is possible in the eye. The primary concept of eye genetics and its application in routine ophthalmology practice is essential for a better understanding of the disease, appropriate diagnosis as well as genetic counselling, testing, and management.[2] In India, it has been reported that the baseline cause for most genetic eye disorders is consanguineous marriage. Awareness is the key factor in early diagnosis of genetic eye conditions as there is a lack of knowledge about genetic disorders in our country. Our aim is to disseminate the right information about inherited eye or retinal conditions and currently available treatment options to the community.[3] To bridge the gap of knowledge and awareness we must keep ourselves updated with the newer treatment approaches trending worldwide. In our Prof Dr N S Sundaram genetic eye clinic we provide the proper documentation of the clinical and family history of the patient. Family history is integral in identifying an individual’s risk for inherited diseases. A pedigree can be utilized for determining the inheritance patterns of the disease within a family. It shows a relationship between family members and indicates the inheritance of the disease from one generation to another. Diagnosis is made based on the symptomatology of the patient, visual acuity, examination of the eye, and the result of diagnostic procedures. The diagnostic equipment available at our place is optical coherence tomography (OCT) for the better evaluation of retinal diseases, a fundus camera for the documentation of the retinal condition, fundus fluorescence angiography, and a Humphrey visual field analyzer (HVF) for evaluating the field defects. Low vision aids trial is provided to improve the residual vision for the better living of patient. Low vision aids available at our place include a binocular and monocular telescope, max TV, spectacle magnifier, hand magnifier, bar magnifier, dome magnifier, signature or writing pad, and video magnifier. After making the best possible diagnosis, the clinic provides free genetic counseling and assistance to the family of the patient by a well-trained optometrist or clinical research coordinator. Education about the disease and trending treatment options are essential for the patient and their families for the betterment of the patient. The key is to have a well-developed clinical diagnosis before ordering a test and to interpret the result in the context of the patient’s findings. With our ophthalmic clinical expertise, we can transfer research into better therapies for inherited eye disease. Our prime goal is to study the prevalence of inherited retinal disorders (IRD) in India, Record the Genetic Variations and Characteristics for early diagnosis, Create Awareness of Diagnostic Tests available for early detection in Pediatric age group, Translate Research to New Therapies, Understand the Disease mechanism and treatment availability, serve as a Database for future trials on new treatment options for which we are starting a clinical registry for inherited retinal degeneration with the Biotechnology Industry Research Assistance Council (BIRAC) -Government of India, Department of Biotechnology. Extensive development is seen in the field of ocular genetics in the past few decades worldwide.[3] The lack of laboratories running exclusive research in the field of genetic eye diseases in India aggravates the urgent need for an increase in their count. Apart from gene therapy and genetic counseling, low-vision rehabilitation methods are beneficent in improving the residual vision of patients with debilitating genetic eye conditions.[3]