Microphthalmia

Microphthalmia is a congenital condition in which one or both eyes are abnormally small. It can occur alone or with structural eye defects, reduced vision, or broader developmental conditions.

Ocular development: The embryonic processes that form the eyes and their supporting structures. Disruption during these processes can leave the developing eye unusually small.
SOX2: A transcription factor gene required for normal development of the eye, brain, and other organs. Pathogenic variants are a well-established genetic cause of severe microphthalmia.
Ophthalmology: The medical and surgical specialty concerned with the eyes and visual system. Ophthalmologists assess the eye structures and vision affected by microphthalmia.
Leber congenital amaurosis: A group of inherited retinal disorders causing severe visual impairment from birth or early infancy. It illustrates profound congenital visual loss that arises from retinal dysfunction rather than a small eye.
Genetic heterogeneity: The phenomenon in which changes in many different genes can produce similar or overlapping conditions. Many genes can cause microphthalmia, complicating the search for a precise molecular diagnosis.
Anophthalmia: A congenital condition in which one or both eyes are absent or nearly absent. It lies at the severe end of the spectrum of congenital eye-size disorders.
OTX2: A developmental transcription factor gene involved in formation of the forebrain and eyes. Variants can cause microphthalmia as part of a broader developmental disorder.
Ocular prosthesis: An artificial eye or shell used to improve appearance and support orbital development. A prosthesis may be used when microphthalmia leaves a small or nonfunctional eye.
Amblyopia: Reduced vision in an eye caused by abnormal visual development during childhood. Unequal or limited visual input from a microphthalmic eye can contribute to amblyopia.
Whole-exome sequencing: A sequencing method that reads most protein-coding regions of the genome. It can identify causes in unsolved genetic cases, though some patients remain without a diagnosis.

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