Genetic testing for inherited ocular conditions in a developing country

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• Inherited ocular conditions are a significant cause of blindness globally.
• Advancements in gene therapy have driven progress in genetic testing for these disorders.
• Current genetic testing detects up to 80% of mutations, a vast improvement from previous decades.

Observation:

• 104 patients with suspected inherited eye diseases were enrolled in the study.
• The median age of disease onset was 2 years, with molecular diagnosis achieved at a median of 10 years.
• A significant mutation detection rate of 78.8% was observed.

Findings:

• Disease-causing genotypes were identified in 82 out of 104 probands.
• Mutations were found in 38 different genes, with *ABCA4* (23%) and *CRB1* (13%) being the most frequent.
• Whole-exome sequencing in 6 patients yielded a 50% diagnostic success rate.

Implications:

• Molecular testing for inherited eye conditions is viable in developing countries through international laboratory collaboration.
• The mutation detection rate is comparable to that in developed nations.
• Further research into novel disease-causing genes could enhance diagnostic sensitivity for rare ocular disorders.