SINDROMES ASOCIADOS

A partir de estudios que se han ido realizando con el tiempo, se ha logrado determinar que la anoftalmía se encuentra asociada con diversos síndromes producidos a partir de algunos errores genéticos  En las siguientes tablas se pueden observar el nombre del síndrome asociado, al tipo de herencia al que esta ligado, la localización del gen dañado y las características que acompañan la anoftalmía en cada caso (Jana, 2010). 

Additional file 1. Syndromes associated with anophthalmia.

Syndrome	Inheritance	Locus (Gene)	Characteristics in Addition to Anophthalmia
Fryns	AR	Unknown	Orofacial clefting, uterine abnormalities, ear abnormalities, neural tube defects, microphthalmia
Lenz microphthalmia	X-linked	Xq27-q28 (ANOP1), Xp11.4-p21.2 (BCOR)	Microphthalmia, learning difficulties, limb abnormalities, microcephaly, orofacial clefting, tooth and skeletal anomalies, deafness, microgenitalia
Matthew-Wood	? AR	15q23-q25.1 (STRA6)	Pulmonary hypoplasia
Oculocerebrocutaneous (Delleman) syndrome	AR	Unknown	Orbital cysts, focal dermal hypoplasia, cerebral malformations, cleft lip/palate in 15%
Waardenburg-Anophthalmia	AR	Unknown	Syndactyly / oligodactyly, learning difficulties, skeletal anomalies

  Tomado de: Jana, M. (2010). Anofthalmy and Microftalmy. Departament Of Radiodignosis, India , 24(3) 69-80 .Recuperado de: http://www.ojoonline.org/temp/OmanJOphthalmol3286-6291669_172836.pdf Consultado el 24 de Octubre del 2012.

Additional file 2. Syndromes associated with microphthalmia. 

Syndrome	Inheritance	Locus (Gene)	Characteristics in Addition to Microphthalmia
Aicardi syndrome	X-linked dominant	Xp22	Agenesis of corpus callosum, anophthalmia, chorioretinal abnormality, infantile spasms, microcephaly, cleft lip / palate, rib/vertebrae abnormalities, brain abnormalities, neoplasia, precocious puberty, learning difficulties, lethal in males
Arhinia, choanal atresia, and microphthalmia	AD	Unknown	Complete absence of nose, choanal atresia, cleft palate
Branchio-oculo-facial syndrome (BOFS)	AD	Unknown	Developmental delay, microcephaly, anophthalmia, coloboma, renal malformations, cataract, cleft lip / palate, dental anomalies, branchial arch anomalies, infra-auricular or cervical skin defects
CHARGE syndrome	AD	7q21.11 (semaphorin-3E), 8q12.1 (CHD7)	Coloboma, heart defect, choanal atresia, growth and developmental retardation, genital and ear abnormalities
Cerebro-oculo-facio-skeletal syndrome (COFS)	AR	10q11 (ERCC6)	Hypotonia, cataract, microcephaly, brain malformations, blepharophimosis, kyphoscoliosis, osteoporosis, kidney defects, failure to thrive, flexion contractures
Coloboma-obesity-hypogenitalism-mental retardation syndrome	AD	Unknown	Cataract, coloboma, obesity, hypogenitalism, learning difficulties

Tomado de: Jana, M. (2010). Anofthalmy and Microftalmy. Departament Of Radiodignosis, India , 24(3) 69-80 .Recuperado de: http://www.ojoonline.org/temp/OmanJOphthalmol3286-6291669_172836.pdf  Consultado el 24 de Octubre del 2012.