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Anophthalmia and microphthalmia (A\/M) are part of a phenotypic spectrum alongside ocular coloboma, hypothesized to share a common genetic basis. Both A\/M can occur in isolation or as part of a syndrome. Their complex etiology involves chromosomal aberrations, monogenic inheritance pattern, and the contribution of environmental factors such as gestational-acquired infections, maternal vitamin A deficiency (VAD), exposure to X-rays, solvent misuse, and thalidomide exposure. A\/M exhibit significant clinical and genetic heterogeneity with over 90 genes identified so far. Familial cases of A\/M have a complex genetic basis, including all Mendelian modes of inheritance, i.e. , autosomal dominant, recessive, and X-linked. Most cases arise sporadically due to de novo  mutations. Examining gene expression during eye development and the effects of various environmental variables will help us better understand the phenotypic heterogeneity found in A\/M, leading to more effective diagnosis and management strategies. The present review focuses on key genetic factors, developmental abnormalities, and environmental modifiers linked with A\/M. 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