II. Definition

  1. Congenital ocular tissue defect or gap, most often affecting the iris

III. Findings

  1. Eyelid margin defect: Treacher Collins Syndrome
  2. Aniridia (Iris absent)
    1. Poor Visual Acuity
    2. Nystagmus
  3. Iris and Retina defect: CHARGE Syndrome (rare Autosomal Dominant condition related to a CHD7 gene mutation)
    1. Coloboma
    2. Heart disease
    3. Choanal Atresia
    4. Postnatal growth retardation
    5. Genital hypoplasia
    6. Ear Abnormality

IV. Management

  1. Ophthalmology referral on identifying a Coloboma (typically on Newborn Exam)

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Ontology: Congenital ocular coloboma (disorder) (C0009363)

Definition (NCI) An abnormality in which a part of a structure in one or both eyes is missing.
Definition (MSH) Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
Concepts Congenital Abnormality (T019)
MSH D003103
ICD10 Q13.0
SnomedCT 92828000, 93390002
English Coloboma, Colobomas, Coloboma iris, choroid, retina, COLOBOMA, OCULAR, Ocular colobomas, COLOBOMA, UVEORETINAL, COI, COLOBOMA OF IRIS, CHOROID, AND RETINA, COI - Coloboma iris/chor/retin, Coloboma, uveoretinal, coloboma, coloboma (physical finding), congenital coloboma, congenital coloboma (diagnosis), Colobomata, Congenital ocular coloboma (disorder), Coloboma NOS, Coloboma [Disease/Finding], coloboma eye, ocular coloboma, colobomata, colobomas, Coloboma of the Eye, Coloboma Of Iris, Choroid, And Retina, Coloboma, Ocular, Coloboma, Uveoretinal, Uveoretinal Coloboma, Ocular Coloboma, Coloboma of iris, retina, and choroid, Congenital ocular coloboma (diagnosis), congenital anomalies of eye ocular coloboma, Coloboma of iris, choroid and retina, COI - Coloboma of iris, choroid and retina, Coloboma of eye (disorder), Coloboma of eye, Congenital ocular coloboma, Ocular coloboma, Congenital ocular coloboma, NOS, Coloboma of eye, NOS, Ocular coloboma, NOS
Dutch colobomen, coloboom, Coloboom
German Colobomata, Kolobom
Italian Colobomi, Coloboma
Portuguese Colobomas, Coloboma
Spanish Colobomas, coloboma del ojo (trastorno), coloboma del ojo, coloboma ocular congénito (trastorno), coloboma ocular congénito, coloboma ocular, Coloboma
Japanese 眼欠損症, ガンケッソンショウ
Swedish Kolobom
Czech kolobom, Kolobom, Kolobomata
Finnish Kolobooma
Russian KOLOBOMA, КОЛОБОМА
Polish Szczelina gałki ocznej wrodzona
Hungarian Coloboma, Colobomata
French Colobome de l'iris, de la choroïde et de la rétine, Colobome oculaire, Colobome
Norwegian Kolobom, Coloboma

Ontology: CHARGE Syndrome (C0265354)

Definition (MSH) Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Definition (NCI) A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D058747
SnomedCT 47535005, 394529000
English Colob, heart, cho atr, growth, Coloboma, congen heart, choanal atresia, growth, ear, CHARGE association (disorder), Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association, CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES, HHS, HALL-HITTNER SYNDROME, CHARGE SYNDROME, CHARGE syndrome (diagnosis), Associations, CHARGE, Syndrome, CHARGE, Hall-Hittner Syndrome, Hall Hittner Syndrome, Association, CHARGE, CHARGE Syndromes, CHARGE Associations, Syndrome, Hall-Hittner, CHARGE Association, CHARGE Syndrome, charge association, CHARGE Syndrome [Disease/Finding], Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder), Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association (disorder), Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association, CHARGE association, CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies, Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome (disorder), Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association, Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome, CHARGE syndrome
Dutch CHARGE-syndroom
French Syndrome de CHARGE, Association CHARGE, Syndrome de Hall-Hittner, Syndrome CHARGE
Italian Sindrome CHARGE, Sindrome di CHARGE
Portuguese Síndrome de CHARGE, Síndrome CHARGE, Associação CHARGE
Spanish asociación CHARGE, asociación CHARGE (trastorno), Síndrome CHARGE, Asociación CHARGE, asociación de coloboma, malformación cardíaca, atresia de coanas, retraso de crecimiento y desarrollo, anomalías genitales y malformaciones auriculares (CHARGE), asociación de coloboma, malformación cardíaca, atresia de coanas, retraso de crecimiento y desarrollo, anomalías genitales y malformaciones auriculares (CHARGE) (trastorno), asociación de coloboma, malformación cardíaca, atresia de coanas, retraso de crecimiento y desarrollo, anomalías genitales y malformaciones auriculares (trastorno), asociación de coloboma, malformación cardíaca, atresia de coanas, retraso de crecimiento y desarrollo, anomalías genitales y malformaciones auriculares
Japanese CHARGE症候群, CHARGEショウコウグン
Czech Syndrom CHARGE, Hallův-Hittnerův syndrom, CHARGE syndrom
German CHARGE-Assoziation, CHARGE-Syndrom, Hall-Hittner-Syndrom
Russian CHARGE SINDROM, CHARGE АССОЦИАЦИИ, CHARGE ASSOTSIATSII, СЕМЕЙНЫЙ CHARGE СИНДРОМ, CHARGE СИНДРОМ, SEMEINYI CHARGE SINDROM
Hungarian Charge-syndroma
Polish Zespół CHARGE, Asocjacja CHARGE, Zespół Halla-Hittnera
Norwegian CHARGE-syndrom