Depiction of Infant with<unk> <unk>  is often diagnosed soon after birth. An initial diagnosis usually occurs after the eyes are inspected through the lids. In addition to visual examinations, measurements of the cornea are used in the diagnosis of this condition. An ultrasound may also be conducted to confirm whether the axial length of the eye is clinically below average (i.e. at least 2 standard deviations below the age-adjusted mean). When a case of<unk>  is detected, the patient should visit an eye specialist as soon as possible. It is important for an ophthalmologist to conduct a thorough examination within 2 weeks after birth. The ophthalmologist will confirm the preliminary diagnosis and look for signs of other anomalies in both eyes. These abnormalities may include coloboma, optic nerve hypoplasia, retinal dystrophy, and cataract. Ultrasound may also be used to determine the presence of any internal eye issues, which may not otherwise be visible. It is possible for individuals with<unk>  to have some vision in the affected eye(s). For this reason, the vision of infants with<unk>  should be evaluated early on, even in severe cases. Pediatric vision tests along with electrodiagnostics are typically used to assess visual acuity. If no related symptoms are present,<unk>  is defined as non-syndromic or isolated<unk>  (MCOP). When occurring in conjunction with other developmental defects, it may be diagnosed as syndromic<unk>  (MCOPS). Approximately 60 to 80% of<unk>  cases are syndromic. Several types of MCOPS have been recognized based on their genetic causes: + MCOPS classification Type Causative gene/locus Inheritance Synonyms MCOPS1 NAA10 XL Lenz<unk>  syndrome MCOPS2 BCOR XLR XLD oculofaciocardiodental syndrome MCOPS3 SOX2 AD SOX2 anophthalmia syndrome, anophthalmia/microphthalmia-esophageal atresia (AEG) syndrome MCOPS4 Xq27-q28 XLR<unk> -ankyloblepharon-intellectual disability syndrome MCOPS5 OTX2 AD OTX2-related eye disorders MCOPS6 BMP4 AD Bakrania-Ragge syndrome,<unk>  with brain and digit anomalies MCOPS7 HCCS, COX7B, NDUFB11 XLD MIDAS syndrome,<unk>  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<unk>  and brain atrophy (MOBA) syndrome MCOPS11 VAX1 AR N/A MCOPS12 RARB AD, AR<unk>  with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects MCOPS13 HMGB3 XL colobomatous<unk>  with microcephaly, short stature, and psychomotor retardation, Maine microphthalmos MCOPS14 MAB21L2 AD, AR colobomatous<unk> -rhizomelic dysplasia syndrome,<unk> -coloboma-rhizomelic skeletal dysplasia
Microphthalmia
Xanthochromia
Macular hypoplasia
Macrodontia 
Macrotia
Anisochromia
Xerophthalmia
Blue nails