Hereditary pediatric cataract on the Arabian Peninsula

Hereditary pediatric cataract on the Arabian Peninsula does not follow the same epidemiological patterns as described for Western populations. This article describes selected genetic causes for inherited pediatric cataract in the region

Pupil-sparing complete third nerve palsy from cryptogenic midbrain stroke in an otherwise-healthy young adult with patent foramen ovale

Although pupil-sparing in acute unilateral complete third nerve palsy is often a sign of ischemic nerve injury, it is not specific for injury outside of the midbrain. This report documents acute pupil-sparing complete third nerve palsy in an otherwise healthy young adult with patent foramen ovale and associated atrial dilatation who suffered cryptogenic focal midbrain stroke, presumably from a paradoxical embolism. The patent foramen ovale was surgically closed. Over the next several months neurological recovery was complete except for diplopia and relatively comitant hypotropia, which responded well to conventional strabismus surgery

Response of diabetic papillopathy to intravitreal bevacizumab

Diabetic papillopathy is an uncommon hyperemic optic disc swelling that occurs in patients with long-standing diabetes, is typically self-resolving with minimal effect on vision, and is likely ischemic in origin. The purpose of the current report is to document the response of diabetic papillopathy to intravitreal injection of bevacizumab [Avastin, Genentech Inc, San Francisco, California, USA], a humanized monoclonal antibody to vascular endothelial growth factor

Schnyder corneal dystrophy in a Saudi Arabian family with heterozygous UBIAD1 mutation [p.L121F]

Schnyder corneal dystrophy is a rare dominant disorder mostly reported in Western and occasionally Asian populations. This report documents the condition in an affected family from the historically isolated Arabian Peninsula. A child and her mother had central crystalline keratopathy consistent with Schnyder corneal dystrophy. Diagnostic UB1AD1 testing revealed a known point mutation [c.361C>T, p.L121F] in both individuals. Available asymptomatic family members had normal ophthalmic examinations and did not have the mutation. Blood lipid profiles for the two patients revealed mildly elevated total cholesterol and low-density lipoproteins. This report documents Schnyder corneal dystrophy on the Arabian Peninsula and further confirms its relationship with heterozygous UB1AD1 missense mutation

Subconjunctival epithelial inclusion cyst complicating strabismus surgery: early excision is better

Epithelial inclusion cysts can occur following otherwise-uncomplicated strabismus surgery. Because of their tendency to grow posteriorly into the orbit, they should be monitored closely or treated when relatively small. We report and discuss an illustrative case

Glaucoma after pediatric cataract surgery

To compare glaucoma after pediatric cataract surgery in children who did and children who did not undergo primary posterior chamber lens [PCIOL] implantation. Retrospective case series. An institutional retrospective chart review was performed of all patients who underwent pediatric cataract surgery with and without primary PCIOL implantation before the age of 12 years [from January 1985 to February 2003]; the review excluded microcornea and any condition independently associated with glaucoma. Patients had a minimum of 5 years [60 months] postoperative follow up, which had to include intraocular pressure measurements. The outcome measure was the presence or absence of post pediatric cataract surgery glaucoma, defined as persistently elevated intraocular pressure >/= 28 mmHg, as measured on at least 2 occasions with confirmation of the diagnosis by the treating ophthalmologist. A total of 489 pseudophakic eyes and 269 aphakic eyes met our inclusion criteria. Eight eyes [1.6%] out of the 489 pseudophakic eyes were diagnosed with glaucoma, whereas 62 eyes [23%] out of the 269 aphakic eyes were diagnosed with glaucoma. Mean age at time of surgery for the pseudophakic eyes was 45.6 months [standard deviation [SD] +/- 32.3] and for the aphakic eyes was 10.1 months [SD +/- 18.9]. Mean follow up period postoperatively was 70.4 months [SD +/- 12.5] and 123.7 months [SD +/- 66.2] in the pseudophakic and aphakic eyes respectively. The presence of postoperative complication [s] as well as the need for further intraocular surgery was risk factors for glaucoma development in the aphakic eyes. Glaucoma was diagnosed at an earlier onset in the pseudophakic eyes compared with the aphakic eyes [15.8 months +/- 18.8 vs 59.0 months +/- 44.0, P <0.0001]. Glaucoma control was more difficult in the aphakic eyes than in the pseudophakic eyes. Pseudophakic eyes had a significantly lower glaucoma incidence than aphakic eyes; however, because surgery was performed later in pseudophakic eyes we cannot conclude a protective effect from primary PCIOL implantation. Early age at cataract surgery as well as the presence of postoperative complication [s] and the need for further intraocular surgery [s] are risk factors for glaucoma development. Glaucoma after cataract surgery before 10 months of life tends to occur later and to be more difficult to control

"New" congenital cranial dysinnervation disorder - Ptotic lid elevation with ipsilateral abduction

Purpose: To report and discuss a new form of congenital cranial dysinnervation disorder - ptotic lid elevation during ipsilateral abduction. Ophthalmic evaluation of affected individuals in two related families and of other immediate family members. Two siblings and their cousin exhibit ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction - one sibling is bilaterally affected and the two other individuals are unilaterally affected. A third sibling has isolated bilateral congenital ptosis. A fourth demonstrates classic Duane syndrome Type I in the right eye. Other family members do not have ophthalmic abnormalities. Conclusions: A familial syndrome of ptotic lid elevation during ipsilateral abduction is described. A unifying mechanism of congenital cranial dysinnervation likely underlies phenotypes of congenital oculomotor and/or abducens nerve abnormalities with or without abnormal synkinesis

Multiple sclerosis: a review of existing therapy and future prospects

Multiple sclerosis [MS] is an incurable neurological illness that frequently causes chronic disability. Neurologists broach the diagnosis with dread. "I'll end up in a wheel chair" is the anguished cry of the newly diagnosed and mostly young patients. The past decade has improved our understanding of the immunopathogenesis of MS enormously. This has led to a plethora of clinical trials and the resultant emergence of several new drugs in various stages of development. In 1993, Food and Drug Administration [FDA] approved Betaseron for the treatment of MS. Todate, this is the only drug approved by the FDA, specifically for the treatment of MS. However, it would not be too long before several other drugs are approved, leaving the neurologist bewildered having gone from a state of practically little to offer to a state of several options to choose from. This review discusses the status of current and future therapy in the treatment of MS. Multiple sclerosis [MS] is the most common demyelinating disease of the human central nervous system [CNS]. Medline includes over 13000 articles on MS since 1966 that exclude book chapters and other references. MS typically affects the youth and women more than men, between the ages of twenty and forty. Clinically, the illness is characterized into a relapsing-remitting [RR] or chronic progressive [CP] stage although more precisely defined stages exist for research purposes. It tends to follow a highly unpredictable course leading to chronic and sometimes devastating disability. More recently, follow up data suggested that the disease may fall into a pattern after several years. Despite decades of hectic research and better understanding of immunological mechanisms involving human CNS disease, the cause of MS remains unknown. However, it is widely believed that MS is the result of an autoimmune disorder in a genetically susceptible individual, mediated by autoreactive T cells that migrate into the CNS and initiate the inflammatory demyelinating lesion[2]-4. Regardless of the plausibility of this theory and without going into details, several aspects of immune mediated pathology of MS remain unexplained. This is an attempt to review the status of current therapy and future prospects in the treatment of MS