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This study focuses on understanding eye diseases caused by inherited genes in Indian people. It aims to use simple genetic tests and thorough eye check-ups to better identify and treat these conditions, helping patients get the care they need.

Genetic Testing and Deep Phenotyping of Inherited Retinal Diseases (IRDs) in Indian population: A prospective, multicenter study - NIL

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
CTRI
Registry ID
CTRI/2025/08/093263
Enrollment
144
Registered
2025-08-19
Start date
Unknown
Completion date
Unknown
Last updated
2025-09-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

None listed

Interventions

None listed

Sponsors

Vitreo Retinla Socirty of India (VRSI)
Lead Sponsor

Eligibility

Inclusion criteria

Inclusion criteria: Individuals diagnosed with RPwill be includedfrom 9 centres by experienced retina specialist with expertise in management of IRDs. The diagnosis will be based on deep phenotyping including comprehensive ophthalmic examination, retinal multimodal imaging and electrophysiology wherever available.Patients presenting with nyctalopia, visual field loss and/or decreased vision, and having diffuse and/or widespread retinal pigment epithelial degeneration, arterial narrowing, disc pallor, and evidence of generalised rod and cone involvement will be diagnosed as RP

Exclusion criteria

Exclusion criteria: a) Individuals with non-genetic retinal disorders will not be included. b) Individuals with IRDs other than RP will not be included. c) Participants who refuse to or are unable to provide informed consent for genetic testing will not be included.

Design outcomes

Primary

MeasureTime frame
1)This study will provide a comprehensive, uniform and prospective phenotypic data using newer multimodal imaging techniques. This will depict the varied clinical presentation of RP in Indian population. 2)This study will provide the prevalence of disease causing genetic variants for RP in Indian population usinga uniform genetic testing method i.e Whole exome Sequencing or WES by a single certified service provider (Medgenome Labs Pvt. Ltd., Bengaluru, India). Timepoint: 36 week

Secondary

MeasureTime frame
NATimepoint: NA

Countries

India

Contacts

Public ContactRiya Sharma

Dr. Agarwal Group of Eye Hospitals

parveensen@gmail.com9884327629

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Feb 4, 2026