Biochemical Basis of Genetic Disorders: Diagnostic and Therapeutic Insights With Ocular and Histopathological Perspectives.
Year: 2025
Type: article
Study design: Observational Study
Abstract: Genetic disorders often manifest with ocular abnormalities, yet the biochemical underpinnings linking metabolic dysfunction to histopathological changes in the eye remain inadequately characterized. This study aimed to elucidate the biochemical and histopathological correlates of inherited metabolic disorders (IMDs) presenting with ocular manifestations. A cohort of 120 patients with clinically diagnosed IMDs and ocular symptoms underwent comprehensive biochemical profiling, imaging, and histopathological examination of ocular tissues. Significant elevations in lysosomal enzyme activities were observed in patients with mucopolysaccharidoses (p<0.001), correlating with corneal clouding and retinal degeneration. Histopathological analysis revealed glycosaminoglycan accumulation in the corneal stroma and retinal pigment epithelium disruption. Patients with peroxisomal disorders exhibited elevated very-long-chain fatty acids (p<0.01), associated with optic nerve atrophy and retinal dystrophy. These findings underscore the direct impact of metabolic derangements on ocular structures. The study introduces novel correlations between specific biochemical markers and ocular histopathology, providing insights into targeted diagnostic and therapeutic strategies. The statistically significant associations between metabolic profiles and ocular pathology highlight the necessity for integrated biochemical and ophthalmologic assessments in managing genetic disorders. This research fills a critical gap by linking metabolic dysfunctions to specific ocular histopathological changes, paving the way for precision medicine approaches in ophthalmogenetics.
DOI: 10.53555/5pswy553
Authors: Fatima Razzaq, Rashida Naseem, Amir Jalal, Muhammad Saeed, Maria Jawed, Muhammad Imran Ali, Farah Naz Tahir
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4410260276