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Genetic disorders by system
Syndromic microphthalmia
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Syndromic microphthalmia

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Syndromic microphthalmia
Symptoms Abnormally small eyeball(s)
Usual onset Birth
Duration Lifelong
Causes Genetic or environmental factors
Frequency 1 in 10,000 individuals

Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia with other non-ocular malformations. Syndromic microphthalmia accounts for 60 to 80% of all cases of microphthalmia. Syndromic microphthalmias are caused by mutations in genes related to embryonic craniofacial development, and they are typically classified by their genetic cause.

Classification

If microphthalmia is present, genetic testing can be done to inform a specific diagnosis of a named syndrome. Twenty to forty percent of anophthalmia and microphthalmia patients are diagnosed with a recognized syndrome. There are 14 numbered syndromic microphthalmies (MCOPS) primarily defined by their ocular manifestations:

MCOPS classification
Type Causative gene/locus Inheritance Synonyms
MCOPS1 NAA10 XL Lenz microphthalmia syndrome
MCOPS2 BCOR XLR
XLD oculofaciocardiodental syndrome
MCOPS3 SOX2 AD SOX2 anophthalmia syndrome, anophthalmia/microphthalmia-esophageal atresia (AEG) syndrome
MCOPS4 Xq27-q28 XLR microphthalmia-ankyloblepharon-intellectual disability syndrome
MCOPS5 OTX2 AD OTX2-related eye disorders
MCOPS6 BMP4 AD Bakrania-Ragge syndrome, microphthalmia with brain and digit anomalies
MCOPS7 HCCS, COX7B, NDUFB11 XLD MIDAS syndrome, microphthalmia with linear skin defects (MLS) syndrome
MCOPS8 SNX3 AD microcephaly-microphthalmia ectrodactyly of lower limbs and prognathism (MMEP) syndrome, Viljoen–Smart syndrome
MCOPS9 STRA6 AR anophthalmia/microphthalmia and pulmonary hypoplasia, Spear syndrome, Matthew–Wood syndrome
MCOPS10 unknown microphthalmia and brain atrophy (MOBA) syndrome
MCOPS11 VAX1 AR N/A
MCOPS12 RARB AD, AR microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
MCOPS13 HMGB3 XL colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation, Maine microphthalmos
MCOPS14 MAB21L2 AD, AR colobomatous microphthalmia-rhizomelic dysplasia syndrome, microphthalmia-coloboma-rhizomelic skeletal dysplasia

In addition to MCOPS1–14, there are many genetic syndromes of which microphthalmia is a key feature:

Syndromes causing microphthalmia
Causative gene/locus Inheritance Name/synonyms
unknown XLD Aicardi syndrome (AIC), agenesis of corpus callosum with chorioretinal abnormality
KIAA1109 AR Alkuraya–Kucinskas syndrome (ALKKCUS)
MAF AD Aymé–Gripp syndrome (AYGRP)
ACTB AD Fryns-Aftimos syndrome, Baraitser–Winter syndrome 1 (BRWS1)
ACTG1 AD Baraitser–Winter syndrome 2 (BRWS2)
unknown Biemond syndrome
FOXL2 AD Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
SMCHD1 AD Bosma arhinia microphthalmia syndrome (BAMS)
TFAP2A AD Branchio-oculo-facial syndrome (BOFS), hemangiomatous branchial clefts-lip pseudocleft syndrome
ERCC6 AR Cockayne syndrome type B (CSB), cerebro-oculo-facio-skeletal syndrome 1 (COFS1)
CHD7 AD CHARGE syndrome
HDAC6 XLD Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
unknown Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
YAP1 AD Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability (COB1)
FAT1 AR Colobomatous microphthalmia, ptosis, nephropathy, and syndactyly
MITF AD Waardenburg syndrome type 2
AR COMMAD syndrome
SRD5A3 AR Congenital disorder of glycosylation type 1q (CDG1q)
SMO unknown Curry–Jones syndrome (CJS)
SALL4 AR Duane-radial ray syndrome, Okihiro syndrome
FANCA, FANCD2, FANCE, FANCI, FANCL AR Fanconi anemia complementation groups A, D2, E, I, L
PORCN XLD Focal dermal hypoplasia, Goltz-Gorlin syndrome
FRAS1 AR Fraser syndrome 1
FREM2 AR Fraser syndrome 2
GRIP1 AR Fraser syndrome 3
ALX3 AR Frontonasal dysplasia 1 (FND1)
ALX1 AR Frontonasal dysplasia 3 (FND3)
unknown AR Fryns syndrome
unknown GOMBO syndrome (growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia)
SLC25A24 AD Gorlin–Chaudhry–Moss syndrome
FAM111A AD Gracile bone dysplasia (GCLEB), Kenny-Caffey syndrome
unknown Hallermann–Streiff syndrome
SMG9 AR Heart and brain malformation syndrome (HBMS)
14q32 AD Hemifacial microsomia
SIX3, SHH, PTCH1, GLI2 AD Holoprosencephaly types 1, 2, 3, 7, 9
IKBKG XLD Incontinentia pigmenti
PDE6D AR Joubert syndrome 22
unknown AR Kapur–Toriello syndrome
KMT2D AD Kabuki syndrome
KDM6A XLD
GDF6 AD Klippel–Feil syndrome types 1, 3
GDF3 XLD
unknown XLD Macrosomia with lethal microphthalmia
FREM1 AR Manitoba oculotrichoanal syndrome (MOTA)
MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L AR Meckel–Gruber syndrome types 1-5
unknown likely AD MOMO syndrome
ZEB2 AR Mowat–Wilson syndrome
POMT1 AD Muscle–eye–brain disease type A 1-11
POMT2, POMGNT1, FKTN, FKRP, CRPPA, POMGNT2, DAG1, RXYLT1, B3GALNT2 AR
NHS XLD Nance–Horan syndrome
RERE AD Neurodevelopment disorder with anomalies of the brain, eye, and/or heart (NEDBEH)
NPD XLR Norrie disease
HMX1 AR Oculoauricular syndrome
GJA1 AD, AR Oculodentodigital dysplasia (ODD)
CPLANE1 AR Orofaciodigital syndrome type VI
LRP5 AR Osteoporosis-pseudoglioma syndrome
PAX2 AD Papillorenal syndrome
ATOH7 AR Persistent hyperplastic primary vitreous (PHPV)
RIPK4 AR Popliteal pterygium syndrome (PPS)
PQBP1 XLR Renpenning's syndrome
RBP4 AR Retinal dystrophy, iris coloboma and comedogenic acne syndrome (RDCCAS)
DLX1, DLX2 AD Split-hand/foot malformation type V
C12orf57 AR Temtamy syndrome
WNT3 AR Tetra-amelia syndrome
SALL1 AD Townes–Brocks syndrome
PUF60 AD Verheij syndrome
RAB3GAP1, RAB3GAP2, RAB18, TBC1D20 AR Warburg Micro syndrome 1-4

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