coloboma

Summary

Summary: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.

Top Publications

  1. Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, et al. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012;33:457-66 pubmed publisher
    Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations...
  2. Clark P, Dziarmaga A, Eccles M, Goodyer P. Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk. J Am Soc Nephrol. 2004;15:299-305 pubmed
    In renal-coloboma syndrome (RCS), null mutations of the PAX2 gene cause renal hypoplasia due to a congenital deficit of nephrons; affected individuals may develop renal insufficiency in childhood...
  3. Beby F, Commeaux C, Bozon M, Denis P, Edery P, Morlé L. New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. Arch Ophthalmol. 2007;125:213-6 pubmed
    ..All of the affected individuals had nuclear cataract and iris coloboma. Genetic analysis revealed the previously described Arg116Cys mutation in the CRYAA gene in the heterozygous ..
  4. Wyatt A, Bakrania P, Bunyan D, Osborne R, Crolla J, Salt A, et al. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008;29:E278-83 pubmed publisher
    ..Our data suggest that OTX2 mutations and deletions account for 2-3% of AM cases...
  5. Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen J, et al. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. Hum Mutat. 2011;32:1417-26 pubmed publisher
    Microphthalmia, anophthalmia, and coloboma (MAC) are structural congenital eye malformations that cause a significant proportion of childhood visual impairments...
  6. Spitzer M, Grisanti S, Bartz Schmidt K, Gelisken F. Choroidal neovascularization in retinochoroidal coloboma: thermal laser treatment achieves long-term stabilization of visual acuity. Eye (Lond). 2006;20:969-72 pubmed
  7. Schimmenti L, de la Cruz J, Lewis R, Karkera J, Manligas G, Roessler E, et al. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A. 2003;116A:215-21 pubmed
    ..The genetic bases of most forms of uveoretinal coloboma are elusive; mutations in PAX2 are found in only a few cases of coloboma of the retina and optic nerve that occur ..
  8. Gopal L. A clinical and optical coherence tomography study of choroidal colobomas. Curr Opin Ophthalmol. 2008;19:248-54 pubmed publisher
    This paper reviews current understanding of coloboma of the choroid, as evaluated clinically and using optical coherence tomography...
  9. Wang P, Liang X, Yi J, Zhang Q. Novel SOX2 mutation associated with ocular coloboma in a Chinese family. Arch Ophthalmol. 2008;126:709-13 pubmed publisher
    ..To report a novel SOX2 (OMIM 184429) mutation in a Chinese family and to describe its ocular and extraocular clinical features...

More Information

Publications83

  1. Guirgis M, Lueder G. Choroidal neovascular membrane associated with optic nerve coloboma in a patient with CHARGE association. Am J Ophthalmol. 2003;135:919-20 pubmed
    To report a patient with CHARGE association (coloboma, heart disease, choanal atresia, growth retardation, genital hypoplasia, and ear abnormalities) who developed a choroidal neovascular membrane in association with an optic nerve ..
  2. Hoyama E, Limawararut V, Malhotra R, Muecke J, Selva D. Tarsomarginal graft in upper eyelid coloboma repair. J AAPOS. 2007;11:499-501 pubmed
    ..Descriptions of lid coloboma repair using this approach are limited...
  3. von Eicken J, Hoh H, Rehfeldt K. [Photodynamic therapy for choroidal neovascularisation due to choroidal coloboma in a 5 1/2-year-old child]. Klin Monbl Augenheilkd. 2007;224:140-5 pubmed
    ..We add the case of a 5 and a half-year-old child with choroidal neovascularisation due to choroidal coloboma. We treated this condition with PDT...
  4. Bartsch O, Rasi S, Hoffmann K, Blin N. FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22). Eur J Hum Genet. 2005;13:592-8 pubmed
    ..In this study, we found six distinct intervals on 22q to be relevant for FISH diagnostics. We propose to characterize SMCs(22) using DNA probes corresponding to these intervals. ..
  5. Pian D, Ferrucci S, Anderson S, Wu C. Paramacular coloboma. Optom Vis Sci. 2003;80:556-63 pubmed
    Paramacular coloboma (plural: colobomata) is a solitary oval football or torpedo-shaped chorioretinal lesion located temporal to the fovea in one or both eyes...
  6. Verheij J, de Munnik S, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek G, et al. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. 2009;52:353-7 pubmed publisher
    ..The deletions were overlapping by 8.35 Mb (8q24.21q24.23). The clinical features shared by our patients were coloboma, VSD, digital abnormalities, congenital dislocation of a hip, feeding problems, psychomotor delay and convulsions...
  7. Cheong H, Cho H, Kim J, Yu Y, Ha I, Choi Y. A clinico-genetic study of renal coloboma syndrome in children. Pediatr Nephrol. 2007;22:1283-9 pubmed
    Renal coloboma syndrome (RCS) is an autosomal dominant disorder caused by PAX2 gene mutations and characterized by renal hypoplasia and optic disc coloboma...
  8. Smith I, Nichols S, Issekutz K, Blake K. Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data. Am J Med Genet A. 2005;133A:248-56 pubmed
    ..Results are discussed with reference to the challenges inherent in the diagnosis of autism in individuals with sensory impairments, and to the implications for understanding the etiology of CHARGE syndrome and of ASD...
  9. Doyle C, Blake K. Scoliosis in CHARGE: a prospective survey and two case reports. Am J Med Genet A. 2005;133A:340-3 pubmed
  10. Abouzeid H, Meire F, Osman I, ElShakankiri N, Bolay S, Munier F, et al. A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. Ophthalmology. 2009;116:154-162.e1 pubmed publisher
    ..atypical congenital cataract associated with variable expression of microcornea, microphthalmia, and iris coloboma linked to chromosome 2...
  11. Jamieson R, Munier F, Balmer A, Farrar N, Perveen R, Black G. Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. Br J Ophthalmol. 2003;87:411-2 pubmed
    ..the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF...
  12. Blackmon D, Lambert S. Congenital iris coloboma repair using a modified McCannel suture technique. Am J Ophthalmol. 2003;135:730-2 pubmed
    To report a repair of congenital iris coloboma using a modified McCannel suture technique. Interventional case report. Retrospective intervention procedure...
  13. Gregory Evans C, Vieira H, Dalton R, Adams G, Salt A, Gregory Evans K. Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet A. 2004;131:86-90 pubmed
    ..We describe a patient with Down syndrome and Hirschsprung disease with high myopia and ocular coloboma affecting the iris and retina...
  14. Schubert H. Structural organization of choroidal colobomas of young and adult patients and mechanism of retinal detachment. Trans Am Ophthalmol Soc. 2005;103:457-72 pubmed
    ..In colobomatous eyes, the risk of retinal detachment increases with age. This study elucidates the anatomic conditions and pathologic process of retinal detachment associated with colobomas...
  15. Li C, Marles S, Greenberg C, Chodirker B, van de Kamp J, Slavotinek A, et al. Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A. 2007;143A:853-7 pubmed
    ..Characteristic findings in affected patients included unilateral upper eyelid coloboma or cryptophthalmus with ipsilateral aberrant anterior hairline pattern and anal anomalies...
  16. Graham J, Wheeler P, Tackels Horne D, Lin A, Hall B, May M, et al. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. Am J Med Genet A. 2003;123A:37-44 pubmed
    We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC)...
  17. Toker E, Elcioglu N, Ozcan E, Yenice O, Ogut M. Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree. Am J Med Genet A. 2003;121A:25-30 pubmed
    ..All affected relatives had bilateral involvement with typical inferonasal iris coloboma, chorioretinal coloboma, microcornea, and varying degrees of axial enlargement associated with myopia...
  18. Hartshorne T, Grialou T, Parker K. Autistic-like behavior in CHARGE syndrome. Am J Med Genet A. 2005;133A:257-61 pubmed
    ..However, the variance for CHARGE was larger than for the normative groups, and 27.5% of those with CHARGE could be classified as autistic. The pattern of subscale scores for those with CHARGE differed from the other normative groups...
  19. Brown D. CHARGE syndrome "behaviors": challenges or adaptations?. Am J Med Genet A. 2005;133A:268-72 pubmed
  20. See A, Clagett Dame M. The temporal requirement for vitamin A in the developing eye: mechanism of action in optic fissure closure and new roles for the vitamin in regulating cell proliferation and adhesion in the embryonic retina. Dev Biol. 2009;325:94-105 pubmed publisher
    ..5 restores Pitx2 expression, supports dissolution of the basal lamina, and prevents coloboma, whereas supplementation at E13.5 does not. Surprisingly, ROL given as late as E13...
  21. Mizuno H, Yamada J, Nishiura M, Takahashi H, Hino Y, Miyatani H. Capsular tension ring use in a patient with congenital coloboma of the lens. J Cataract Refract Surg. 2004;30:503-6 pubmed
    Cataract surgery was performed in a 63-year-old man with bilateral coloboma of the lens...
  22. Khan A, Al Assiri A. Lens coloboma associated with a ciliary body cyst. Ophthalmic Genet. 2007;28:208-9 pubmed
    Isolated congenital lens coloboma is a sectoral indentation of the crystalline lens due to zonular weakness or absence...
  23. Liu C, Bakeri H, Li T, Swaroop A. Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. Hum Mol Genet. 2012;21:1848-60 pubmed publisher
    ..We previously showed that Fz5(-/-) mice exhibit mild coloboma and microphthalmia at ~50% penetrance...
  24. Hartshorne T, Hefner M, Davenport S. Behavior in CHARGE syndrome: introduction to the special topic. Am J Med Genet A. 2005;133A:228-31 pubmed
    ..And, finally, all papers point to behavior as communication, especially within relationships, where it is essential for maximizing intellectual and social outcomes...
  25. Tsuji N, Kita K, Ozaki K, Narama I, Matsuura T. Organogenesis of mild ocular coloboma in FLS mice: failure of basement membrane disintegration at optic fissure margins. Exp Eye Res. 2012;94:174-8 pubmed publisher
    ..characterized by localized retinochoroidal defects of the ventral fundus very similar to human typical ocular coloboma without microphthalmia...
  26. Gunn R, Keenan M, Brown R. Analysis of sensory, motor and cognitive functions of the coloboma (C3Sn.Cg-Cm/J) mutant mouse. Genes Brain Behav. 2011;10:579-88 pubmed publisher
    The coloboma mutant mouse (C3Sn...
  27. Jardón J, Izquierdo N. Coloboma and CHARGE association in Puerto Rico. Bol Asoc Med P R. 2009;101:39-41 pubmed
    Previous studies have reported that patients with the CHARGE association have congenital anomalies including: Coloboma; heart defects; choanal atresia, retarded growth and development; genital hypoplasia; and ear anomalies...
  28. Zhou C, Molotkov A, Song L, Li Y, Pleasure D, Pleasure S, et al. Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes. Dev Dyn. 2008;237:3681-9 pubmed publisher
    b>Coloboma, an ocular birth defect seen in humans and other species, is caused by incomplete closure of the optic fissure...
  29. Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, et al. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. Eur J Hum Genet. 2009;17:125-8 pubmed publisher
    ..Two patients also had uni- or bilateral iris coloboma. Linkage analysis revealed a single 10...
  30. Zhang X, Li S, Xiao X, Jia X, Wang P, Shen H, et al. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. Mol Vis. 2009;15:2911-8 pubmed
    To screen ten genes for mutations in 32 Chinese patients with microphthalmia and/or coloboma.
  31. Berk A, Yaman A, Saatci A. Ocular and systemic findings associated with optic disc colobomas. J Pediatr Ophthalmol Strabismus. 2003;40:272-8 pubmed
    ..To determine the ocular and systemic anomalies associated with optic disc colobomas...
  32. Shah S, Taylor A, Sowden J, Ragge N, Russell Eggitt I, Rahi J, et al. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest Ophthalmol Vis Sci. 2011;52:558-64 pubmed publisher
    Anophthalmos, microphthalmos, and typical coloboma (AMC) form an interrelated spectrum of congenital eye anomalies that can cause significant visual loss and cosmetic disfigurement in children...
  33. Jongmans M, Admiraal R, van der Donk K, Vissers L, Baas A, Kapusta L, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006;43:306-14 pubmed
    CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies, and deafness...
  34. Blake K, Salem Hartshorne N, Daoud M, Gradstein J. Adolescent and adult issues in CHARGE syndrome. Clin Pediatr (Phila). 2005;44:151-9 pubmed
    Very little information has been published about adolescents and older individuals with Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and deafness (CHARGE) syndrome...
  35. Beck A, Hudgins L, Hoyme H. Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?. Am J Med Genet A. 2005;134:359-62 pubmed
    ..development, and concomitant deficient neural crest migration into the developing eye can lead to ocular coloboma and or iris heterochromia, it may be that the altered gene or genes in our familial cases are involved with ..
  36. Takenaka J, Yamane K, Minamoto A, Mishima H, Hayashida H. Subretinal neovascularization associated with retinochoroidal coloboma. Eur J Ophthalmol. 2005;15:815-7 pubmed
    To report a case of subretinal neovascularization associated with retinochoroidal coloboma.
  37. Lalani S, Safiullah A, Molinari L, Fernbach S, Martin D, Belmont J. SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet. 2004;41:e94 pubmed
  38. Gonzalez Rodriguez J, Pelcastre E, Tovilla Canales J, Garcia Ortiz J, Amato Almanza M, Villanueva Mendoza C, et al. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol. 2010;94:1100-4 pubmed publisher
    Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children...
  39. Aijaz S, Clark B, Williamson K, van Heyningen V, Morrison D, Fitzpatrick D, et al. Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. Invest Ophthalmol Vis Sci. 2004;45:3871-6 pubmed
    To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.
  40. Issekutz K, Graham J, Prasad C, Smith I, Blake K. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A. 2005;133A:309-17 pubmed
  41. Agarwal T, Saxena R, Vajpayee R. Ultrasound biomicroscopy in lens "coloboma". Eur J Ophthalmol. 2003;13:390-1 pubmed
    To study the morphology of the Lens "Coloboma" using the technique of ultrasound biomicroscopy.
  42. Kim T, Goodman J, Anderson K, Niswander L. Phactr4 regulates neural tube and optic fissure closure by controlling PP1-, Rb-, and E2F1-regulated cell-cycle progression. Dev Cell. 2007;13:87-102 pubmed
    ..humdy) mouse mutant with failure to close the neural tube and optic fissure, causing exencephaly and retinal coloboma, common birth defects...
  43. Ming J, Russell K, Bason L, McDonald McGinn D, Zackai E. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Am J Med Genet A. 2003;123A:249-52 pubmed
    ..We report three children with Kabuki syndrome who also had a retinal coloboma. A diagnosis of CHARGE association was initially suggested in two of the patients before the typical facial ..
  44. Chalouhi C, Faulcon P, Le Bihan C, Hertz Pannier L, Bonfils P, Abadie V. Olfactory evaluation in children: application to the CHARGE syndrome. Pediatrics. 2005;116:e81-8 pubmed
    ..tool for testing olfactory function in children and use it to investigate a group of children with CHARGE (coloboma, congenital heart disease, choanal atresia, mental and growth retardation, genital anomalies, and ear ..
  45. Sehgal R, Karcavich R, Carlson S, Belecky Adams T. Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. Dev Biol. 2008;319:23-33 pubmed publisher
    ..Within the visual system, a loss-of-function leads to lack of choroid fissure closure (known as a coloboma), a loss of optic nerve astrocytes, and anomalous axonal pathfinding at the optic chiasm [Favor, J...
  46. Shah S, Taylor A, Sowden J, Ragge N, Russell Eggitt I, Rahi J, et al. Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management. Ophthalmology. 2012;119:362-8 pubmed publisher
    To describe the clinical features of children with anophthalmos, microphthalmos, and typical coloboma (AMC).
  47. Graham J, Rosner B, Dykens E, Visootsak J. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome. Am J Med Genet A. 2005;133A:240-7 pubmed
    CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), ..
  48. Gongal P, French C, Waskiewicz A. Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma. Biochim Biophys Acta. 2011;1812:390-401 pubmed publisher
    ..concerning the signaling mechanisms underlying the development of two neural birth defects, holoprosencephaly and coloboma. Holoprosencephaly, the most common forebrain defect, occurs when the cerebral hemispheres fail to separate and ..
  49. Hornby S, Ward S, Gilbert C. Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy. Med Sci Monit. 2003;9:HY23-6 pubmed
    ..Other congenital malformations commonly found in association with ocular coloboma (e.g. oesophageal fistulae and heart defects in CHARGE association) may also be VAD related...
  50. London N, Kessler P, Williams B, Pauer G, Hagstrom S, Traboulsi E. Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. Mol Vis. 2009;15:162-7 pubmed
    Microphthalmia, anophthalmia, and coloboma are ocular malformations with a significant genetic component...
  51. Arrington C, Cowley B, Nightingale D, Zhou H, Brothman A, Viskochil D. Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. Am J Med Genet A. 2005;133A:326-30 pubmed
    ..Within the deleted region, there are approximately 150 expressed genes, one or more of which may contribute to the manifestations of CHARGE association...
  52. Schimmenti L, Manligas G, Sieving P. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet. 2003;24:191-202 pubmed
    Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous ..
  53. Yeung A, Amor D, Savarirayan R. Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. Am J Med Genet A. 2009;149A:767-9 pubmed publisher
    We describe two patients with upper eyelid coloboma, hypertelorism, disruption of the eyebrow, and anterior hairline anomaly...
  54. Wang L, Wang L, He F, Bu J, Zhen Y, Liu X, et al. ABCB6 mutations cause ocular coloboma. Am J Hum Genet. 2012;90:40-8 pubmed publisher
    Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity...
  55. Jones M, Hess E. Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. Pharmacol Biochem Behav. 2003;75:209-16 pubmed
    ..We have identified the mouse mutant coloboma as an animal model for examining the neurological basis of hyperactivity...
  56. Satar B, Mukherji S, Telian S. Congenital aplasia of the semicircular canals. Otol Neurotol. 2003;24:437-46 pubmed
  57. Yoo W, Park Y, Yoo J. A case of chorioretinal coloboma in a patient with achondroplasia. Korean J Ophthalmol. 2010;24:302-5 pubmed publisher
    ..This is first report of chorioretinal coloboma in achondroplasia...
  58. Iatropoulos P, Daina E, Mele C, Maranta R, Remuzzi G, Noris M. Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation. Pediatr Nephrol. 2012;27:1989-93 pubmed publisher
    Renal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities. It is associated in about 50 % of cases with mutations of PAX2, a gene encoding a transcription factor required during development...
  59. Bardakjian T, KWOK S, Slavotinek A, Schneider A. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. Am J Med Genet A. 2010;152A:3120-3 pubmed publisher
    ..His clinical features included left microphthalmia, persistent hyperplastic primary vitreous and posterior coloboma, right posterior pole coloboma, pectus excavatum, mild hypotonia, mild delays in speech and motor development, ..
  60. Babu N, Raviprakash D, Kumar R. Nasopalpebral lipoma coloboma syndrome. Indian J Ophthalmol. 2011;59:379-80 pubmed publisher
    Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome...
  61. Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, et al. Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. Clin Nephrol. 2007;67:1-4 pubmed
    Renal-coloboma syndrome (RCS) is an autosomal dominant disorder characterized by renal abnormalities and optic nerve defects, caused by heterozygous mutations of the PAX2 gene...
  62. Asai Coakwell M, French C, Berry K, Ye M, Koss R, Somerville M, et al. GDF6, a novel locus for a spectrum of ocular developmental anomalies. Am J Hum Genet. 2007;80:306-15 pubmed
    ..Characterization of a chromosome 8q21.2-q22.1 segmental deletion in a patient with chorioretinal coloboma revealed elements of nonallelic homologous recombination and nonhomologous end joining...
  63. Spano A, Piozzi E, Cavallini M, Baruffaldi Preis W, Buscarini A, Foschi D, et al. Surgical approach in a rare case of coloboma-choristoma. Br J Plast Surg. 2005;58:732-5 pubmed
    ..We describe the exceptional coexistence of upper eyelid coloboma and lower eyelid dermolipoma in a 45-day-old infant with a Tessier no. 0-1 cleft...
  64. Gregory Evans C, Williams M, Halford S, Gregory Evans K. Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet. 2004;41:881-91 pubmed
    Congenital colobomata of the eye are important causes of childhood visual impairment and blindness. Ocular coloboma can be seen in isolation and in an impressive number of multisystem syndromes, where the eye phenotype is often seen in ..
  65. Jyonouchi S, McDonald McGinn D, Bale S, Zackai E, Sullivan K. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics. 2009;123:e871-7 pubmed publisher
    CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11...
  66. Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich A, Slavotinek A, et al. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. Am J Med Genet A. 2007;143A:1900-5 pubmed
    ..Here, we report on an autosomal recessive syndrome with ACC, optic coloboma, craniofacial dysmorphism, skeletal anomalies, and intractable seizures in a brother and sister from a ..
  67. Bhende M, Suganeswari G, Gopal L, Bhende P, Gopal L, Rao C. Choroidal neovascularization associated with coloboma of the choroid: a series of three cases. Indian J Ophthalmol. 2011;59:148-51 pubmed publisher
    Choroidal neovascularization (CNV) is a rare complication associated with coloboma of the choroid. We describe three cases of coloboma choroid where there was loss of vision due to CNV development at the edge of the coloboma...
  68. Slavotinek A, Baranzini S, Schanze D, Labelle Dumais C, Short K, Chao R, et al. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011;48:375-82 pubmed publisher
    ..Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports of affected siblings, but no locus or cytogenetic aberration had previously been described...
  69. Bernstein V, Denno L. Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options. Am J Med Genet A. 2005;133A:232-9 pubmed
    ..The student, now 19 years old, has made progress in her educational program and has been able to experience more community integration...
  70. Vissers L, van Ravenswaaij C, Admiraal R, Hurst J, de Vries B, Janssen I, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955-7 pubmed
    ..Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals...
  71. Parmeggiani F, Milan E, Costagliola C, Giuliano M, Moro A, Steindler P, et al. Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa. Eye (Lond). 2004;18:421-8 pubmed
    Purpose To report the clinical association between macular coloboma (early-onset macular dystrophies/atrophic changes) and different phenotypes of retinitis pigmentosa (RP)...
  72. Ilsen P, Patel S. Coloboma of the crystalline lens. Optometry. 2003;74:765-74 pubmed
    Anomalies of crystalline lens shape and position include: lenticonus, lentiglobus, microspherophakia, coloboma, and ectopia lentis. Lens coloboma probably results from a localized absence or maldevelopment of lens zonules...
  73. Dziarmaga A, Clark P, Stayner C, Julien J, Torban E, Goodyer P, et al. Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. J Am Soc Nephrol. 2003;14:2767-74 pubmed
    In humans, PAX2 haploinsufficiency causes renal-coloboma syndrome (RCS) involving eye abnormalities, renal hypoplasia, and renal failure in early life...
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    ..Characteristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, ..