OCULAR GENETICS DEPARTMENT
Overview
Ocular Genetics encompasses disorders affecting all structures of the eye from the anterior to posterior segment and is a leading cause of blindness across the globe. In ophthalmology, the number of genes known to cause genetic disease has greatly increased over the past decades. This new knowledge has been shown to be crucial in the management of genetic eye disease and has resulted in a paradigm shift in diagnosis and therapy. Genetic testing in ophthalmology has been demonstrated to have clinical utility through increased information from better diagnosis and prognosis, through decreased morbidity and mortality from preventive care and informed treatment options, and from provision of information to assist reproductive choice. Many of these disorders are also a part of a multi-systemic disorder that needs evaluation from different specialties.
Who We Are
Department of Ocular Genetics and genetic counselling services started at SCEH in 2018 and has been the centre for diagnosing and managing hereditary and systemic ocular genetic disorders. The spectrum of these rare disorders spans across all sub-specialities. We assist families for pre-test, post-test, pre-conceptional and pre-natal counselling. We successfully perform genetic testing for 90% of all our retinoblastoma affected children thus helping the families with recurrence risk education and management advice. Regular counselling ensures families suffering from these debilitating conditions are aware about their recurrence, understand the role of a genetic diagnosis and can prevent them in their future offspring.
Key Facts & Figures for year 2022
Conditions We Treat
Routinely performed procedures
- Genetic Counseling – education about genetic disorders and the risk of inheritance; pre-test and post-test counseling, psychosocial impact of living with genetic eye disorders, linking with research teams and support groups, discussion about prenatal tests, management advice
- Genetic Testing – Molecular diagnosis, education about different available tests.
- Biobanking and Research– storage facility of DNA samples for rare disease families, patient enrolment
Tests Available :-
- Clinical Exome Sequencing (NGS)
- RB1 gene analysis (germline)
- Congenital cataract gene panel
- Corneal dystrophy gene panel
- Microphthalmia and anophthalmia gene panel
- Whole exome sequencing
- RB1 gene deletion/duplication analysis (MLPA)
- Congenital stationary night blindness gene panel
- Leber congenital amaurosis gene panel
- Optic atrophy gene panel
RESEARCH
Contributing towards research is an integral part of the dept, hence we actively biobank samples for selected rare disorders. We also work very closely with the Eicher-Shroff Centre for Stem Cell Research and participate in basic and transitional sciences by enabling patient enrolment for rare disease projects. Over the course of a few years, we have assisted in the formulation of a rare disease clinic, organising celebration and awareness days about genetic diseases such as aniridia day, world albinism day and retinoblastoma week.
MAJOR PUBLICATIONS
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Front Pediatr. 2022;10:1003909. Published 2022 Dec 2. doi:10.3389/fped.2022.1003909
Vanita V, Goyal S, Tibrewal S, Ganesh S. Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3. -
a multicentric study from North India. British Journal of Ophthalmology. 2020;105(7):897-903. doi:10.1136/bjophthalmol-2020-316910
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium. Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population -
Insights into the genetics and pathogenesis – Accepted in Mar2022 in Indian Journal of Ophthalmology
Sushmita Kaushik, Suneeta Dubey, Sandeep Choudhary, Ria Ratna, Surinder Singh Pandav, Arif O. Khan MD Anterior Segment Dysgenesis -
Delhi Journal of Ophthalmology 33(1):p 18-24, Jan–Mar 2023. | DOI: 10.4103/DLJO.DLJO_25_23
Ratna, R, Tibrewal, S. The Role of Pedigree Charting and Analysis in Ophthalmology. -
A rare case of Congenital Aniridia with an unusual run-on mutation in PAX6 gene - Accepted in Mar 2022 in Indian Journal of Ophthalmology
Ria Ratna, ShailjaTibrewal, AbhaGour, Reena Gupta, Umang Mathur, VanitaVanita. -
Clinical and Molecular Aspects of Congenital Aniridia – A review of current concepts – Accepted in Feb 2022 in Indian Journal of Ophthalmology
ShailjaTibrewal, Ria Ratna, AbhaGour, SumitaAgarkar, Suneeta Dubey, Suma Ganesh, Ramesh Kekunnaya, Virender Sangwan, Yutao Liu, VanitaVanita.
Why SCEH
At Dr. Shroff’s Charity Eye Hospital, we offer the best cornea treatment in Delhi and north India. We rank among the top ten hospitals for cornea transplant surgery in India. During the corneal transplant surgery, the patient is given anesthesia depending on the age, medical history, and eye problem. We pride ourselves in offering the best cornea treatment as we have some of the finest cornea specialist doctors. Also, corneal transplant cost in India is economical and cost-effective than other countries.
Dr. Shroff’s Charity Eye Hospital is ranked among first-in-class for its clinical excellence, the enduring legacy of our founder, Dr. S. P. Shroff. We have state-of-the-art clinical care providing best eye care and treatment to our patients.
Our team comprises of eminent doctors from the world, most of whom are pioneers in their respective fields. Additionally, they are renowned for developing innovative and revolutionary clinical procedures.
For more queries on cornea eye treatment or corneal transplant surgery in Delhi and north India, contact us at +91-11- 4352 4444 email: sceh@sceh.net
