Table 1 Overview of disease associated with non-syndromic and syndromic anophthalmia/severe microphthalmia
From: Anophthalmia including next-generation sequencing-based approaches
Name of disease | Alternative names | OMIM# of the disease | Cytogenetic location | Associated gene(s) | OMIM# of associated gene(s) | Inheritance |
|---|---|---|---|---|---|---|
Aniridia 1 (AN1) | Cataract, congenital, with late-onset corneal dystrophy | 11p13 | PAX6 | Autosomal dominant | ||
Bosma arhinia microphthalmia syndrome (BAMS) | Arhinia, choanal atresia, microphthalmia and hypogonadotropic hypogonadism | 18p11.32 | SMCHD1 | Autosomal dominant | ||
Branchiooculofacial syndrome | BOF syndrome Branchial clefts with characteristic facies, growth retardation, imperforate, nasolacrimal duct and premature aging Hemangiomatous brancial clefts lip pseudocleft syndrome Lip pseudocleft hemangiomatous branchial cyst syndrome | 6p24.3 | TFAP2A | Autosomal dominant | ||
Cerebrooculonasal syndrome | – | Unknown | – | Unknown | Unknown | |
Chromosome 1q41-q42 deletion syndrome | Holoprosencephaly 10 (HPE10) | 1q41-q42 | – | – | Isolated cases | |
COMMAD syndrome | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 3p13 | MITF | Autosomal recessive | ||
Dextrocardia with unusual facies and microphthalmia | – | Unknown | – | – | Unknown | |
Focal dermal hypoplasia (FDH) | FODH DHOF Goltz syndrome Goltz-gorlin syndrome | Xp11.23 | PORCN | X-linked dominant | ||
Fraser syndrome 1 (FRASRS1) | Fraser syndrome Cryptophtalmos with other malformations Cryptophthalmos- syndactyly syndrome | 4q21.21 | FRAS1 | Autosomal recessive | ||
Fryns microphthalmia syndrome | Microphthalmia with facial clefting Anophthalmia-plus syndrome | Unknown | – | – | Autosomal recessive | |
Fryns syndrome (FRNS) | Diaphragmatic hernia, abnormal face, and distil limb anomalies | Unknown | – | – | Unknown | |
Holoprosencephaly 9 (HPE9) | Pituitary anomalies with holoprosencephaly-like features Holosproencephaly with microphthalmia and first branchial arch anomalies | 2q14.2 | GLI2 | Autosomal dominant | ||
Joubert syndrome 21 | – | 8q13.1-q13.2 | CSPP1 | Autosomal recessive | ||
Kapur-toriello syndrome | Long columella with cleft lip/palate and eye, heart and intestinal anomalies | Unknown | – | – | Unknown | |
Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) | Microphthalmia, syndromic 7 (MCOPS7) Microphthalmia with linear skin defects (MLS) Microphthalmia, dermal aplasia, and sclerocornea Midas syndrome | Xp22.2 | HCCS | X-linked dominant | ||
Manitoba oculotrichoanal syndrome (MOTA) | Marles syndrome | 9q22.3 | FREM1 | Autosomal recessive | ||
Meckel syndrome, type 8 (MKS8) | – | 12q24.31 | TCTN2 | Autosomal recessive | ||
Microphthalmia with limb anomalies (MLA) | Waardenburg anophthalmia syndrome Anophthalmia- syndactyly Ophthalmoacromelic syndrome (OAS) | 14q24.2 | SMOC1 FNBP4 | Autosomal recessive | ||
Microphthalmia, isolated 1 (MCOP1) | MCOP Anophthalmia, clinical, isolated Microphthalmos, autosomal recessive | 14q32 | – | – | Autosomal recessive | |
Microphthalmia, isolated 2 (MCOP2) | Anophthalmia, clinical, isolated | 14q24.3 | VSX2 | Autosomal recessive | ||
Microphthalmia, isolated 3 (MCOP3) | – | 18q21.32 | RAX | Autosomal recessive | ||
Microphthalmia, isolated 4 (MCOP4) | – | 8q22.1 | GDF6 | Autosomal dominant | ||
Microphthalmia, isolated 8 (MCOP8) | – | 15q26.3 | ALDH1A3 | Autosomal recessive | ||
Microphthalmia, isolated, with coloboma 3 (MCOPCB3) | Microphthalmia, cataracts and iris abnormalities | 14q24.3 | VSX2 | Autosomal recessive | ||
Microphthalmia, isolated with coloboma 4 (MCOPCB4) | – | Unknown | – | – | Unknown | |
Microphthalmia, isolated, with coloboma 10 (MCOPCB10) | – | 10q23.33 | RBP4 | Autosomal dominant | ||
Microphthalmia, syndromic 1 (MCOPS1) | Lenz microphthalmia syndrome Lenz dysplasia MAA | Xq28 | NAA10 | X-linked dominant and recessive | ||
Microphthalmia, syndromic 2 (MCOPS2) | Oculofaciocardiodental syndrome OFCD syndrome Microphthalmia, cataracts, radiculomegaly and septal heart defects ANOP2 MAA2 Lenz microphthalmia syndrome | Xp11 | BCOR | X-linked dominant and recessive | ||
Microphthalmia, syndromic 3 (MCOPS3) | Microphthalmia and esophageal atresia syndrome Clinical anophthalmia with assosicated anomalies Anophthalmia-esophageal genital syndrome AEG syndrome | 3q26.33 | SOX2 | Autosomal dominant | ||
Microphthalmia, syndromic 4 (MCOPS4) | Microphthalmia with ankyloblepharon and mental retardation Microphthalmia-ankyloblepharon-intellectual disability syndrome ANOP1 | Xq27-q28 | – | – | X-linked recessive | |
Microphthalmia, syndromic 5 (MCOPS5) | Retinal dystrophy, early-onset, with or without pituitary dysfunction | 14q22.3 | OTX2 | Autosomal dominant | ||
Microphthalmia, syndromic 6 (MCOPS6) | Microphthlamia and pituitary anomalies Microphthalmia with brain and digit developmental anomalies Anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia | 14q22.2 | BMP4 | Autosomal dominant | ||
14q23.1 | SIX6 | Autosomal recessive | ||||
Microphthalmia, syndromic 9 (MCOPS9) | Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart and diaphragm Anophthalmia/microphthalmia and pulmonary hypoplasia Pulmonary hypoplasia- diaphragmatic hernia- anophthalmia-cardiac defect (PDAC) Spear syndrome Matthew-wood syndrome Pulmonary agenesis, microphthalmia and diaphragmatic defect (PMD) Microphthalmia isolated with coloboma 8 (MCOPCB8) | 15q24.1 | STRA6 | Autosomal recessive | ||
Microphthalmia, syndromic 11 (MCOPS11) | – | 10q25.3 | VAX1 | Autosomal recessive | ||
Microphthalmia, syndromic 12 (MCOPS12) | Microphthalmia with or without pulmonary hypoplasia diaphragmatic hernia and/or cardiac defects Matthew-wood syndrome | 3p24.2 | RARB | Autosomal dominant and recessive | ||
Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) | Microphthalmia or coloboma with or without rhizomelic skeletal dysplasia Microphthalmia, syndromic 14 (MCOPS14) | 4q31.3 | MAB21L2 | Autosomal dominant and recessive | ||
Oculocerebrocutaneous syndrome (OCCS) | Orbital cyst with cerebral and focal dermal malformations Delleman syndrome | Unknown | – | – | Unknown | |
Sakoda complex | Sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate Sakoda spectrum | Unknown | – | – | Unknown | |
Short-rib thoracic dysplasia 12 (SRTD12) | Short rib-polydactyly syndrome, type IV (SRPS4) Beemer-langer syndrome Short rib syndrome, beemer type | Unknown | – | – | Unknown | |
Thoracoabdominal syndrome (THAS) | Midline defects, X-linked Pentalogy of cantrell | Xq25-q26.1 | – | – | X-linked |
