Ocular Genetics

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Ocular Genetics


Precision in diagnosis, including the identification of disease subtypes, directly influences treatment and patient outcomes. Understanding of pathology at a molecular level is critical for identification of many diseases and their subtypes.

Presenting ACTIA from MedGenome, delivering ACTIONABLE insights to enable happier outcomes. Actia provides an end-to-end integrated solution to clinical genomics in India and is highly focussed on the Indian population.

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Ocular Genetics

Of the approximately 5000 genetic diseases and syndromes known to affect humans, at least one-third involve the eye. Due to advances in molecular genetics and sequencing methods, there has been an exponential increase in the knowledge of genetic eye diseases and syndromes.

Genetic Ophthalmic Disorders

  • More than 60% of cases of blindness among infantsare caused by inherited eye diseases such as congenital cataracts, congenital glaucoma, retinal degeneration, optic atrophy and eye malformations
  • In adults, cataract, glaucomaandage-relatedmacular degeneration are three of the leading causes of blindness, and all appear to be inherited in a large portion of cases
  • Up to 40% of patients with certain types of strabismus have a family history of the disease
  • There is also evidence now that the most common vision problems among children and adults are genetically determined (Eg: strabismus, amblyopia, refractive errors such as myopia, hyperopia and astigmatism)

Genetics of Eye Disorders

  • Multiple genes are responsible for the proper development and maintenance of the eye
  • Mutations in these are involved in a variety of debilitating ocular conditions
  • Genetic ophthalmic disorders include a large number of ocular pathologies which have autosomal dominant, autosomal recessive or X-linked inheritance patterns, or are complex traits with polygenic and environmental components
  • Genetic disorders affect different structures of the eye from the anterior to posterior segments
  • The presence of a particular ocular sign known to be associated with a specific systemic disease and is often the deciding factor in confirming the diagnosis of that disease, like dislocated eye lens confirms Marfan’s syndrome; characteristic red spot in eye is associated with Tay-Sach’s diseases; blue sclera suggests Osteogenesis Imperfecta; Aniridia indicates WAGR syndrome
  • Additionally, most of the ocular genetic disorders like Coloboma, Retinitis Pigmentosa, and Glaucoma show systemic, as well as, non-systemic manifestation

Genetic Ophthalmic Disorders - Classification

These are classifed according to the type of genetic abnormality


  • Corneal dystrophies
  • Albinism
  • Norrie disease
  • Retinoschisis
  • Choroideremia
  • Inherited retinal degenerative diseases (non-syndromic and syndromic)
  • Inherited optic neuropathies
  • Colour vision deficiencies
  • Retinoblastoma


  • Anterior segment dysgenesis
  • Aniridia
  • Anophthlamos/ microphthalmos/ nanophthalmos
  • Coloboma


  • Cataract
  • Keratoconus
  • Fuchs endothelial corneal dystrophy
  • Age-related macular degeneration
  • Glaucoma
  • Pseudoexfoliation syndrome
  • Diabetic retinopathy

Why Recommend ACTIA For Patients with Genetic Ophthalmic Disorders?

Important information regarding an underlying genetic disorder an eye can be detected by a genetic ophthalmic exam.
Why Recommend ACTIA For Patients with Genetic Ophthalmic Disorders?

ACTIA Offers

A broad range of pre-designed gene mutation panels which have been developed with in-depth disease understanding of the genetic disorder incorporating the latest research in that particular domain.

New updated technologies, helpful customer service, and clear result interpretation along with counselling sessions with our Genetic Counsellors, make us equipped to provide you the best available support for your patients and families with inherited ophthalmic disorders.

Gene Panels

  • Corneal dystrophy gene panel
  • Bardet-Biedl syndrome gene panel
  • Cataract gene panel (congenital/developmental)
  • Choroideremia - CHM gene - Deletion duplication
  • Congenital stationary night blindness gene panel
  • Leber congenital amaurosis gene panel
  • Microphthalmia and anophthalmia gene panel
  • Optic atrophy gene panel
  • RB1 gene analysis
  • RB1 gene deletion/duplication analysis
  • Retinal Degeneration gene panel
  • Usher syndrome (USH2A) deletion/duplication analysis
  • Usher syndrome gene panel

Test Methodology

1.Next Generation Sequencing (NGS)

Using genomic DNA extracted from blood, the coding regions of all the genes are captured and sequenced simultaneously by NGS technology on an Illumina platform. The sequence data that is generated is aligned and analyzed for sequence variants.

2.Multiplex ligation-dependent probe amplification (MLPA)

Deletion and duplication analysis of genomic DNA is carried out by MLPA. This method allows for the amplification of multiple targets with only a single primer pair.

Test sample requirements

Test sample requirements
Blood (3-5ml in EDTA tubes)
Extracted DNA samples (1µg high quality DNA)

Required forms

  • Relevant clinical information including all the clinical presentations and symptoms
  • Test request form (TRF)

Turnaround time

  • 4 weeks for NGS
  • 3 weeks for MLPA
  • 3 weeks for Sanger sequencing
Geknow Hub

Geknow Hub

MedGenome’s commitment to sharing knowledge related to Genes and Genomics

As a leader in providing genomics testing solutions in India, MedGenome recognizes that it’s imperative for a clinician to be enabled with the most accurate information and the deepest insights for providing better treatment outcomes. Through our GeKNOW hub, we give you the best and latest rich sets of information, you can learn about, and capitalize on the tremendous possibilities that our solutions can help you with.

Free Genetic Counselling

Free Genetic Counselling

ACTIA offers all your patients FREE pre & post-test genetic counselling with our expert and certified genetic counsellors.

Best available support for your patients and families via

  • Latest technologies
  • Helpful customer service
  • Clear result interpretation
  • Counselling sessions with our Genetic Counsellors
Dial 1800 103 3691

Our representative will get in touch with you within 24 hours to help you with the registration. You can start prescribing the test right away and help your patients gain clarity about their genetic health.

Talk to our genetic experts for free today or reach us

Our certified genetic specialists are available right now to discuss your queries before, during and after screenings.

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