Mitochondria are vital organelles responsible for ATP production and metabolic regulation, essential for energy-intensive cells such as retinal ganglion cells. Dysfunction in mitochondrial oxidative phosphorylation or mitochondrial DNA (mtDNA) pathogenic variants can disrupt ATP synthesis, cause oxidative stress, and lead to cell death. This has profound implications for tissues such as the retina, optic nerve, and retinal pigment epithelium, which are dependent on robust mitochondrial function. In this review, we provide a comprehensive compilation of pathogenic variants in the mtDNA associated with various ophthalmic diseases, including Leber’s hereditary optic neuropathy, chronic progressive external ophthalmoplegia, Leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, among others. We highlight the genetic variants implicated in these conditions, their pathogenic roles, and the phenotypic consequences of mitochondrial dysfunction in ocular tissues. In addition to well-established mutations, we also discuss the emerging evidence of the role of mtDNA’s variants in complex multifactorial diseases, such as non-arteritic anterior ischemic optic neuropathy, primary open-angle glaucoma, and age-related macular degeneration. The review aims to serve as a valuable resource for clinicians and researchers, providing a detailed overview of mtDNA pathogenic variants and their clinical significance in the context of mitochondrial-related eye diseases.

Childhood eye cancers, although rare, present substantial health challenges, affecting the pediatric population with a remarkable impact on their lives and families. This comprehensive review provides insights into the various types of ocular tumors, primarily focusing on malignant eye tumors, their genetic predispositions, and advancements in managing these conditions. Understanding the genetic risk factors is crucial for early detection, risk assessment, and the development of targeted therapies. This review discusses genome-wide association (GWAS) and next-generation sequencing (NGS) studies to find common and rare genetic variants. Furthermore, it also explores the outcomes and implications of these genetic discoveries in treating pediatric ocular cancer. These findings underscore the significance of genetic research in guiding early interventions and improving outcomes in children with ocular cancers.

This cross‐sectional study evaluated the knowledge and understanding of basic genetic concepts, as well as the acceptance of screening and preventive measures, among 100 adult patients and/or parents of children with primary congenital glaucoma (PCG) at King Khalid Eye Specialist Hospital. The study population included 36 males and 64 females. Following genetic counseling sessions for participants who had received genetic test results, an assessment was conducted using structured telephone interviews. Parents and adult patients generally demonstrated an understanding of autosomal recessive conditions: 93% recognized the increased genetic risk associated with consanguinity, and 87% were aware that an unaffected individual may be a carrier of the mutation. However, approximately one‐third still had difficulty understanding or recalling recurrence risks. There was moderate‐to‐high motivation among participants to engage in preventive actions. While 61% supported prenatal genetic screening (PGS), 78% expressed willingness to use preimplantation genetic diagnosis (PGD) to avoid having an affected child; reinforcing the need to fast‐track a congenital glaucoma prevention program. Such an initiative would facilitate the identification of carriers prior to marriage, enabling informed decision‐making regarding pregnancy management.