Delhi Journal of Ophthalmology

The Broiling Soup of Retinoblastoma Genetics

Kaur Amritjeet, Panjwani Sahil

Sarojini Devi Eye Hospital, Hyderabad, India

Editor-in-Chief, Delhi Journal of Ophthalmology, Dr R.P.Centre, AIIMS.

Corresponding Author:

Amritjeet Kaur (MBBS, MS)
Ophthalmology Junior Resident 
Sarojini Devi Eye Hospital, Mehdipatnam, Hyderabad
Email ID:

Received: 29-OCT-2019 Accepted: 17-JAN-2020 Published Online: 09-OCT-2020

Right from the time, two hit hypothesis of retinoblastoma was described to the present advancements in the field of genetics involving retinoblastoma; there has been a plethora of information available. The retinocytoma- retinoblastoma phenotype is attributed to the mutations occuring in RB gene locus; is a well known fact. Recently there has been add on researches on the same. The role of epigenetics and the role of genomic imprinting (selective expression of a gene) is new. This article tries to summarize the overwhelming information available in the field of genetics in retinoblastoma. It tries to clear the basic concepts about the hereditary retinoblastoma and it's various aspects. Also an attempt has been made to make the concept of maternal imprinting more clear in the article.

Keywords :Retinoblastoma, genetics, knudson, imprinting, epigenetics, retinocytoma

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