Repeat radiographs confirmed severe and progressive exophthalmos and buphthalmos
(Fig 6) with little change in the appearance of the coelomic mass.
Table 1 Eye-related photophobia Disorder Additional signs/symptoms Mechanism Achromatopsia Reduced vision, Stimulation of light hemeralopia, nystagmus, sensitive cells in retina iris dysfunction and iris Aniridia Nystagmus, low vision, Reduction in control of buphthalmos
, cataract light entering eye.
It is characterized by high intra-ocular pressure (IOP) corneal edema photophobia extreme tearing and enlargement of eye ball (buphthalmos
).3 Primary congenital glaucoma mostly segregates as an autosomal recessive disorder.4
Additional signs such as buphthalmos
and a cloudy cornea are present in congenital glaucoma.
Bony involvement can lead to varying degrees of sphenoid dysplasia, expansion of the middle cranial fossa, expansion of the anterior orbital rim, and expanded orbital foramina secondary to trigeminal nerve involvement  with resultant exophthalmos and buphthalmos
. MRI has improved soft-tissue resolution over CT and may allow improved visualization of tumor extension into the adjacent soft-tissues (Figure 7).
Another study on congenital malformations of the eyes reported that out of 109 eyes 38% had buphthalmos
, 35% had cataract and 14% had nasolacrimal duct obstruction.
1) with temporal lobe herniation into the orbit (buphthalmos
), calvarial defects (lambdoid and, uncommonly, coronal suture) (Fig.2a-d), and dural ectasia.
Blood vessel abnormalities of the eye are associated with glaucoma, which can injure the optic nerve or cause buphthalmos
(eye enlargement), which in turn results in blindness in severe cases.
If the concern is a diffuse opacity, think of buphthalmos
, congenital endothelial dystrophy, mucopolysaccharidosis, cystinosis, or hydrops (a break in the Descemet's membrane that causes rapid hydration and clouding of the cornea).
The also rare primary congenital glaucoma (PCG), sometimes referred to as buphthalmos
, is congenital or manifests during the first 3 years of age (Shields et al.
PCG is usually diagnosed at birth or during the first 3 years of life with clinical symptoms of increased IOP, opacification of the cornea, epiphora, photophobia, enlargement of the globe (buphthalmos
) and rupture in Descemet's membrane.3 The disease is inherited in an autosomal recessive pattern with variable penetrance.4
CT demonstrated buphthalmos
, dysplasia of greater wing of sphenoid and ill-defined soft tissue mass in orbit.