Health Condition 1: H578- Other specified disorders of eye and adnexa
Conditions
Interventions
Intervention1: Nil: Nil
Intervention2: Nil: Nil
Sponsors
Department of Biotechnology
Eligibility
Inclusion criteria
Inclusion criteria: All patients with Microphthalmos, Anophthalmos, and coloboma (MAC) Prioritize patients with bilateral MAC, multiple affected family members and/or consanguineous parents, and patients who have undergone prior genetic testing with Exome Sequencing or gene panels that were non-diagnostic to increase the chance of identifying causative genetic variant(s) with whole genome sequencing.
Exclusion criteria
Exclusion criteria: Posterior microphthalmos or nanophthalmos that are anatomically and genetically distinct forms of microphthalmia Patients with environmental exposures (other than Vitamin A Deficiency) as the cause for MAC
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Phenotype and genotype of 400 MAC patients with unique differences in the clinical and genetic profile of patients in India and USATimepoint: 2 years | — |
Secondary
| Measure | Time frame |
|---|---|
| Genotype-phenotype correlation, especially for Retinoic Acid pathway genesTimepoint: 2 years;Identification of new genesTimepoint: 2 years | — |
Countries
India
Contacts
Public ContactDr Shailja Tibrewal
Dr Shroff Charity Eye Hospital
Outcome results
None listed