Results 31 to 40 of about 2,635 (188)
Anophthalmia Plus Syndrome: A Case Report of Severe Ocular and Systemic Anomalies in a Neonate [PDF]
Case Rep MedAnophthalmia is a severe congenital ocular malformation characterized by the complete absence of one or both eyes, distinct from microphthalmia, in which the eye is significantly underdeveloped. This case report details a male infant born at 37 weeks of gestation via cesarean section because of a transverse lie and placental abruption, with low birth ...
Abushgair Z +6 more
europepmc +2 more sources
Microcornea associated with retinopathy of prematurity. [PDF]
British Journal of Ophthalmology, 1987 Eight children with retinopathy of prematurity (ROP) in whom the corneal diameters were abnormally small in one or both eyes are reported. The mechanisms for microcornea in ROP are discussed. The differential diagnosis of microphthalmos is briefly considered.
S P, Kelly, A R, Fielder
openaire +2 more sources
Indian Journal of Ophthalmology, 2016 Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene.
Dharmil C Doshi +3 more
doaj +1 more source
Treacher Collins syndrome with microcornea and retinal detachment [PDF]
BMJ Case Reports, 2013 A 15-year-old girl was referred to our ophthalmology unit for poor vision in the left eye. She was a diagnosed case of Treacher Collin syndrome (figure 1) and was surgically treated for microtia of the left ear (figure 2). On referral she reported of progressive loss of vision in the left eye for 8 years, no history of trauma, redness, pain or ...
Abijith, Holla +2 more
openaire +2 more sources
Cataract Surgery in Congenital Colobomatous Microphthalmia Associated With Intraorbital Cyst in an Adult. [PDF]
Case Rep Ophthalmol MedWe report a challenging congenital cataract surgery in an adult case of colobomatous microphthalmia associated with intraorbital cyst.
Zhao YE, Zhang F, Wang D.
europepmc +2 more sources
Journal of Family Medicine and Primary Care, 2020 Morning glory disc anomaly (MGDA) is a rare congenital malformation that results from the incomplete formation of the optic nerve in utero. The majority of the patients have unilateral involvement and poor vision leading to sensory strabismus.
Rakesh Panyala +3 more
doaj +1 more source
Aniridia associated with microcornea and subluxated lenses. [PDF]
British Journal of Ophthalmology, 1978 Four cases of aniridia associated with subluxated lenses and microcornea are presented. The triad occurred in both eyes of the 4 affected members in one Ndebele family (one of the South African Negro tribes). No other ocular or systemic defects were noted, and intelligence was normal.
R, David, L, MacBeath, T, Jenkins
openaire +2 more sources
Megalopapilla in oculodentodigital dysplasia: a novel ocular finding in a rare genetic disorder
The Turkish Journal of PediatricsBackground. Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant disorder caused by pathogenic variants in the GJA1 gene and characterized by variable craniofacial, dental, digital, and ocular abnormalities.
Figen Bezci Aygun +3 more
doaj +1 more source
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia [PDF]
, 2022 Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families.
ÇERMAN, EREN +1 more
core +5 more sources
Optic Nerve Aplasia - A Rare Entity
Delhi Journal of Ophthalmology, 2018 Optic nerve (ON) aplasia is a rare developmental anomaly comprising of absence of the ON, ganglion cells and the central retinal vessels. It may be accompanied by a variety of central nervous system (CNS) malformations.
Debarpita Chaudhury +3 more
doaj +1 more source