Consanguinity and ocular disorders in India: Electronic medical records driven big data analytics

To describe the distribution of ocular disorders in patients with a family history of consanguinity presenting to a multi-tier ophthalmology hospital network in India.

This cross-sectional hospital-based study included 2,805,267 new patients presenting between August 2010 and April 2021. Patients with a family history of consanguinity were included as cases. The sociodemographic and clinical data were collected using an electronic medical record system.

Overall, 20,445 (0.73%) new patients were documented to have a family history of consanguinity. The prevalence rates were 4.04% in children (age: <16 years) and 0.21% in adults. The mean age of the patients was 11.87 ± 11.06 years. The majority of the patients were males (56.48%) and students (54.43%) by profession. The majority (93.05%) of the patients were in the 0-30-years age bracket, with over half of them (53.71%) presenting in the first decade of life. A significant number of patients were from higher socioeconomic status (73.48%) and the rural region (47.62%). The most common degree of consanguinity documented was second degree (3.95%). The most common ocular disorders associated with a high proportion of consanguinity were congenital hereditary endothelial dystrophy (CHED) (100%), corneal macular dystrophy (83.78%), xeroderma pigmentosum (80.95%), and ocular albinism (73.59%). A tenth of the patients (9.8%) reported a similar history of ocular disorders among the family members and more commonly among the siblings (70.4%).

Consanguineous marriages are not uncommon in India. They cause ocular disorders that cause visual impairment in a significant majority of those affected in their early decades of life. Genetic counseling plays a role in prevention.