Table 1

Human diseases with eye coloboma and known genetic locus

OMIM number	Disease	Type of coloboma	Inheritance	Chromosome location	Gene	Reference
A, anophthalmia; AD, autosomal dominant; AR, autosomal recessive; C, choroid; del, deletions; dup, duplication; I, iris; inv, inversion; L, lid; M, microphthalmia; MR, mental retardation; O, optic nerve; R, retina; trans, translocation; VCFS, velo-cardiofacial syndrome. Table entries in bold type are eye-specific diseases without systemic defects.
Genes or genetic loci linked to ocular coloboma
274270	DPD deficiency	I, C, M	AR	1p22	DPD	Van Gennip et al¹¹³
157170	Holoprosencephaly 2	I, M	AD	2p21	SIX3	Wallis et al⁸¹
235730	Hirschsprung syndrome	I	AD	2q22	ZFHX1B	Gregory-Evans et al¹⁰², Hurst et al¹¹⁴
601110	CGDS type IV	I	AR	3q27	ALG3	Korner et al¹¹⁵
180500	Reiger syndrome type 1	I, M	AD	4p25	PITX2	Ozkei et al¹¹⁶
121050	CCA syndrome	R,C	AD	5q23–q31	FBN2	Bard et al¹¹⁷
154500	Treacher Collins	I, O, L	AD	5q32–q33.1	TCOF1	Treacher Collins Syndrome Collaborative Group¹¹⁸
600725	Uveo-retinal coloboma	I, R, C, M	AD	7q36	*SHH*	Schimmenti et al⁵⁷
109400	Basal cell nevus/Gorlin	I	AD/sporadic	9q22.3	PTCH	Hahn et al⁶⁸
236670	Walker-Warburg	O, M	AR	9q34.1	POMT1	Beltran-Valero de Bernabe et al¹¹⁹
213300	Joubert syndrome I	R, C	AR	9q34.3		Saar et al¹²⁰
180250	RBP deficiency	I	AD	10q24	RBP4	Seeliger et al⁶⁵
120330	Renal-coloboma	I, R, O,M	AD	10q24.3–25q.1	PAX2	Eccles and Schimmenti⁵⁸
120200	Ocular coloboma	R, C, O	AD	11p13	*PAX6*	Azuma et al⁷⁴
608091	Joubert syndrome II	R, C, O	AR	11p12–q13.3		Keeler et al¹²¹
163950	Noonan syndrome	I, R, O	AD	12q24.1–q24.3	PTPN11	Carvalho et al¹²²
251600	Microphthalmia	R, C, M	AR	14q24.3	*CHX10*	Percin et al⁷⁶
600165	Microphthalmia	I, R, M	AD	15q12–q15		Morrison et al¹⁰⁹
180849	Rubinstein-Taybi	I, O	AD/del	16p13.3	CREBBP	Guion-Almeida and Richieri-Costa¹²³
177075	Cataract/microcornea	I	AD/trans	16q22–q23	*MAF*	Jamieson et al⁷⁸
249000	Meckel-Gruber	I	AR	17q22–q23		MacRae et al¹²⁴
166750	Oculo-oto-dental	I, R	AD	20q13.1		Vieira et al¹⁴
305600	Goltz syndrome	I, C, O	X-linked dom	Xp22.31		Gorski¹²⁵
304050	Aicardi syndrome	O, I	X-linked dom	Xp22		Ropres et al¹²⁶
300472	Corpus callosum defect	I, O	X-linked rec	Xq13.1	IGBP1	Graham et al¹²⁷
309800	Lenz syndrome	I, O, C, M	X-linked rec	Xq27–q28	BCOR	Ng et al¹²⁸
304120	Oto-palato-digital type2	I	X-linked dom	Xq28	FLNA	Robertson et al¹²⁹, Stratton et al¹³⁰

Chromosomal aberrations associated with coloboma
120200	Iris coloboma	I	–	2p25–pter del		Arias et al¹³¹
243310	Coloboma, ptosis, MR	I	–	2p12–q14 inv		Pallotta¹³²
218650	Craniosynostosis	R, C, O	–	2q24–2q31 del		Nixon et al¹³³
194190	Wolf-Hirschhorn	I	–	4p16.3 del		Zollino et al¹³⁴
180500	4q26 deletion syndrome	I	–	4q23–q27 del		Motegi et al¹³⁵
–	7q deletion syndrome	R, C	–	7q34–ter del		Taysi et al¹³⁶
147791	Jacobsen syndrome	I, R, C	–	11q23–q25 del		Pivnick et al¹³⁷
214800	CHARGE association	I, R, C, O	–	8q21.1 del	CHD7	Vissers et al¹³⁸
–	16q syndrome	I	–	16q23–16q24.2 del		Werner et al¹³⁹
115470	Cat eye syndrome	I, C, O, L	–	22q11 inv dup		McTaggart et al¹⁴⁰
192430	VCFS/Di George	I, R, C, M	–	22q11.22 del		Morrison et al¹⁴¹
300337	Hypomelanosis of Ito	I	Mosaicism	Xp11.2 trans		Bartholomew et al¹⁴²