Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)

* INCLUSION CRITERIA: * The participant must be one year of age or older. * The participant must be able to cooperate with an age-appropriate eye examination or be able to provide a copy of a complete eye examination report. * The participant must be able to provide a blood, buccal/saliva, or DNA sample. * The participant must be able to understand and sign this protocol s informed consent form OR have a legal parent/guardian/representative with the ability to do the same. * The participant must either: * a. be affected by MAC(i) OR * b. be an asymptomatic relative of an affected individual. (i) Participants will be considered to be affected if they have a clear ocular phenotype related to MAC or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation co-segregating with MAC, or a rare or unique kidney finding). EXCLUSION CRITERIA: * Female participants who are pregnant are not eligible for enrollment. After giving birth, the female participant and/or a legal parent/guardian/representative may reach out regarding participation in the study. * Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study; however, non-NEI NIH employees may enroll in the study.