AIMS: To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India. METHODS: Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined. RESULTS: 56 probands, 25 females (44.6%) and 31 males (57.4%) with a colobomatous malformation were identified. In 12 cases (21.4%) another family member was affected. The risk to siblings was 3.8%. The parents were consanguineous in 25 cases (44.6%). CONCLUSIONS: 21.4% of cases of isolated ocular coloboma in this highly consanguineous population of south India were familial, with both autosomal dominant and autosomal recessive mechanisms likely in different families.
AIMS: To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India. METHODS:Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined. RESULTS: 56 probands, 25 females (44.6%) and 31 males (57.4%) with a colobomatous malformation were identified. In 12 cases (21.4%) another family member was affected. The risk to siblings was 3.8%. The parents were consanguineous in 25 cases (44.6%). CONCLUSIONS: 21.4% of cases of isolated ocular coloboma in this highly consanguineous population of south India were familial, with both autosomal dominant and autosomal recessive mechanisms likely in different families.
Authors: Vasudha Kemmanu; Subramanya K Giliyar; Harsha L Rao; Bhujanga K Shetty; Govindasamy Kumaramanickavel; Catherine A McCarty Journal: J Community Genet Date: 2018-12-01
Authors: Sabrina C Fox; Sonya A Widen; Mika Asai-Coakwell; Serhiy Havrylov; Matthew Benson; Lisa B Prichard; Pranidhi Baddam; Daniel Graf; Ordan J Lehmann; Andrew J Waskiewicz Journal: Hum Genet Date: 2022-01-28 Impact factor: 5.881
Authors: Daniel Kelberman; Lily Islam; Jörn Lakowski; Chiara Bacchelli; Estelle Chanudet; Francesco Lescai; Aara Patel; Elia Stupka; Anja Buck; Stephan Wolf; Philip L Beales; Thomas S Jacques; Maria Bitner-Glindzicz; Alki Liasis; Ordan J Lehmann; Jürgen Kohlhase; Ken K Nischal; Jane C Sowden Journal: Hum Mol Genet Date: 2014-01-09 Impact factor: 6.150