SNONCC Department of Genetics and Molecular Biology

This Department is functioning since 6th September 1993 and presently provides the following services:

Clinical service: In the Clinical Service patients with ophthalmic genetic disorders are referred by Ophthalmic Consultants for genetic counselling. We provide this service every afternoon between 2.30 to 5 pm. The following list gives you the details of various ophthalmic genetic disorder patients who come to this Clinic:

• Retinitis Pigmentosa (+ Variants)
• Cone Rod Dystrophy
• Congenital stationary night blindness (+ Oguchi disease)
• Heredomacular Degeneration (+ Stargardt disease)
• Retinoblastoma, Iris Coloboma, Down Syndrome
• Chronic myeloid leukemia, Ectopia lentis
• Flecked retina syndrome
• Juvenile retinoschisis
• Macular dystrophy
• Marfan syndrome
• Neurofibromatosis
• Microphthalmos + Congenital cataract
• Glaucoma
• Weill-Marchesani syndrome
• Oculo cutoneous albinism
• Rod-monochromatic cone dystrophy
• Blepherophimoni

Laboratory service: In laboratory service karyotyping by high-resolution banding and mutational screening of RPE65 gene in early onset RP and LCA patients are done.

Teaching: In collaboration with the Birla Institute of Technology, Pilani, Rajasthan three courses are conducted, namely, Master of Science (Medical Laboratory Technology), BS Optometry and Master of Philosophy (Optometry) and BS Ophthalmic Assistant (BSOA). Human Genetics is also being taught to DO/DNB post-graduate students of Dr. MGR Medical University and FRCS course.

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