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Congenital ocular coloboma
- Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition ...
- Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or ...
- Coloboma of the iris is a hole or defect of the iris of the eye. Most colobomas ... Coloboma of the iris can look like a second pupil or a black notch at the edge ...
- Eye Diseases/Specifics ... Eye Diseases ... Coloboma is a condition where some tissue is missing in a part of the eye, like the iris, pupil, lens, retina, or another ...
- Find symptoms and other information about Coloboma of optic nerve.
- A coloboma is a defect in the iris of the eye. It can appear as a black notch of ... the pupil, giving the pupil an irregular shape. Coloboma is a congenital iris defect. Sometimes eye surgery ...
- ... frontofacial syndrome, type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, and mental retardation Genetic Testing ... 2; BRWS2 PubMed Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. ...
- ... with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures ... Microphthalmos Genetic Testing Registry: Microphthalmia Isolated microphthalmia-anophthalmia-coloboma National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
- ... PAX2 gene have been found to cause renal coloboma syndrome. Most variants are specific to each affected ... development, causing the signs and symptoms of renal coloboma syndrome. More About This Health Condition MedlinePlus Genetics ...
- ... PAX6 gene can cause an eye problem called coloboma, in which there is a gap or split ... a transcription factor.In addition to microphthalmia or coloboma (described above), individuals with these relatively mild PAX6 ...