Health Condition 1: H353- Degeneration of macula and posterior pole
Conditions
Interventions
Intervention1: Genomic analysis of patients with MacTel 2: Genomic analysis & biochemical tests on blood samples
Control Intervention1: 1.Age (60 ± 5 years) & gender-matched individuals unaffected by
Sponsors
MedGenome labs Bangalore
Eligibility
Inclusion criteria
Inclusion criteria: Patients diagnosed with MacTel 2 during their visit to the clinic during the study period will be requested to participate in the genomic study. Patients who were diagnosed with MacTel 2 in the past and whose data regarding address or contact details are available in hospital records will be recalled to participate in the genomic study. For Control arm â?? 1. Age (60 ± 5 years) & gender-matched individuals unaffected by MacTel, or any other significant retinal or ocular pathology. 2. Family members (first-degree relatives) â?? who do not have MacTel 2.
Exclusion criteria
Exclusion criteria: 1. Subjects with other retinal vascular and neurodegenerative diseases like vascular occlusion, age-related macular degeneration (AMD), proliferative diabetic retinopathy (PDR), diabetic macular edema, macular or retinal dystrophies etc. 2. Subjects without clear media i.e. with corneal opacity, significant cataract, vitreous haze sufficient to preclude fundus view will be excluded.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Collection of comprehensive clinical and phenotypic data for MacTel 2 patients in India 2. Genotypic characterization of MacTel 2 patients. Timepoint: 3-5 years from study onset | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Establishment of cohorts for MacTel 2 patients 2. Identification of genes associated with the MacTel 2 disease. 3.Identification of risk score for the disease based on the genotypic data. Timepoint: 5 years | — |
Countries
India
Contacts
Public ContactDr Manavi D Sindal
Aravind Eye Hospital
Outcome results
None listed