Table 1 Ocular and systemic alterations observed in the ten studied patients.
Patient | Age | Sex | Ophthalmological findings | Systemic manifestations | Additional studies |
|---|---|---|---|---|---|
1 | 3d | M | OU: palpebral edema (HP:0100540), buphthalmos (HP:0000557), ecchymosis (HP:0031364), corneal opacity (HP:0007957), congenital glaucoma (HP:0008007), abnormality iris morphology (HP:0000525), retinal detachment (HP:0000541) | Disproportionate short stature (HP:0003498), hypotonia (HP:0001252), patent foramen ovale (HP:0001655) | Conventional karyotype: normal Brain MRI: normal |
2 | 13 y | M | OU: Deeply set eyes (HP:0000490), exotropia (HP:0000577) | Severe intellectual disability (HP:0010864), dolichocephaly (HP:0000268), triangular face (HP:0000325), prominent forehead (HP:0011220), tooth malposition (HP:0000692), pectus excavatum (HP:0000767), dolichostenomelia (HP:0001519), arachnodactyly (HP:0001166) | Conventional karyotype: 46,XY Brain computed axial tomography: normal |
3 | 2.5 y | M | OS: iris coloboma (HP:0000612) | Hypotonia, neurodevelopmental delay (HP:0012758), seizures (HP:0001250), microcephaly (HP:0000252), highly arched eyebrows (HP:0002553), medial cleft lip and palate (HP:0008501), bilateral cryptorchidism (HP:0008689) | Brain MRI: Dandy Walker disease, thinning of the corpus callosum Conventional karyotype and aCGH tests: normal |
4 | 2.1 y | M | OD: corneal opacity (HP:0007957), microphthalmia (HP:0000568) OS: anophthalmia (HP:0000528) | Hypotonia, neurodevelopmental delay (HP:0012758), cupped ear (HP:0000378), low-set ears (HP:0000369), severe hearing impairment (HP:0012714), atresia of the external auditory canal (HP:0000413), conical tooth (HP:0000698), syndactyly (HP:0001159), small nail (HP:0001792) | Kidney USG: normal Metabolic neonatal screening: normal |
5 | 4m | F | OD: microphthalmia OS: microcornea, iris coloboma, cataract (HP:0000518) OU: optic nerve aplasia (HP:0008058), retinal detachment (HP:0000541) | Hypotonia, neurodevelopmental delay (HP:0012758) | Metabolic neonatal screening, kidney USG, and aCGH tests: normal. Brain MRI: abnormal |
6 | 11y | F | Polymorphous posterior corneal dystrophy (HP:0007915) | No extraocular findings | AD (familial case with 1st and 2nd relative’s degree affected) |
7 | 3y | M | Apparently congenital stromal corneal dystrophy | No extraocular findings | Sporadic |
8 | 3y | M | OD: Maculopathy (HP:0011504) | Global developmental delay (HP:0001263), microcephaly (HP:0000252), seizures (HP:0001250), polysplenia (HP:0001748), cryptorchidism (HP:0000028) | Consanguinity TORCH screen, conventional karyotype and aCGH tests: normal. Brain MRI: cebocephaly, absence of lateral ventricle floor, dilatation of cerebral ventricles, hypoplasia of the corpus callosum, encephalomalacia, calcifications of frontal, temporal, and occipital lobes |
9 | 15 y | M | Congenital cataract (HP:0000519), Keratoconus (HP:0000563) | Intellectual disability (HP:0001249), pain insensitivity (HP:0007021) | Sibling with hypoplasia of the optic nerve The patient´s mother had gestational diabetes |
10 | 10y | M | OS: Anophthalmia (HP:0000528) | Single central incisor (HP:0006315), scoliosis (HP:0002650) | Spinal X-ray: vertebral malformations at T5 and T6 level |
