Another form of autosomal-dominant disease, NNO3 (OMIM 611897), was described in a family with simple
microphthalmia, microcornea, and high hyperopia, and it was reported to be linked to chromosome 2q11-14 [86].
Based on the histological findings a pathological diagnosis of a
microphthalmia with dominant cyst formation was made.
For clinicians, it is of interest to confirm that the de novo 3q26.33q27.3 microdeletion seems to typically have ocular absence or severe
microphthalmia and microcephalia, along with mental delay [1].
Microphthalmia, which is frequently associated with multiple malformation, has been described in both domestic and nondomestic species, including several canine breeds (e.g., Doberman Pinscher, Saint Bernard, and Miniature Schnauzer, but more frequently as part of the collie eye anomaly), horses, cattle (Angus, Shorthorn, Hereford), Texel sheep, pigs, camel, white-tailed deer, and raptors [2].
In case of group II, anomalies observed were skin hemorrhage (2.5%) imbalanced body axis (5.0%),
microphthalmia (2.5%), degenerated claws (3.75%) and kinky tail (3.75%).
PPM may also be accompanied by persistent hyperplastic tunica vasculosa lentis, persistent hyperplastic primary vitreous, cataract,
microphthalmia (BAYON et al., 2002; MITCHELL, 2011), retinal dysplasia (BAYON et al., 2002), iris hypoplasia (MISK et al., 1998; PINARD & BASRUR, 2011), heterochromia iridis (MISK et al., 1998), angle-closure glaucoma caused by pupillary block, or peripheral anterior synechiae (YOUNG et al., 1974).
Eye involvement presents with epibulbar dermoid/lipodermoid,
microphthalmia, anophthalmia, cataract, astigmatism, antimongoloid obliquity of palpebral fissures, blepharophimosis and colobomata of the upper eyelid, iris, and retina.
Boyden, "
Microphthalmia with single central incisor and hypopituitarism," Journal of Medical Genetics, vol.
The strabismus was observed in 42 (27.6%) patients, cataract in 39(25.6%), extreme myopia in 32(21.1%),
microphthalmia in 13(8.5%), anophthalmia in eight(5.3%), astigmatism in nine(5.9%) and nystagmus in six(3.9%) patients, while keratoconus, glaucoma and retinitis pigmentosa were in single(0.7%) patient each.
###* Morning glory disc anomaly optic nerve###*
Microphthalmia