Visual development in infants: visual complications of periocular haemangiomas.

UNLABELLED: Periocular haemangioma of childhood can severely impact visual development. OBJECTIVE(S): To review our experience with 20 periocular haemangioma patients; to review infant ocular development in the context of periocular capillary haemangioma; to identify early clinical warning signs that may precede devastating visual outcomes in the absence of timely management and to review our experience with surgical debulking for the treatment of selected periocular haemangioma. DESIGN: Retrospective case series. INTERVENTIONS: Twenty children with congenital periocular haemangiomas received care by a multidisciplinary team consisting of doctors from the specialties ophthalmology, plastic surgery, paediatrics and dermatology. The patients were separated by age at presentation to our centre (1 year). Based on consensus amongst the team, certain patients were considered to be at high risk for development of amblyopia, permanent cortical visual change or blindness. These patients were scheduled for urgent surgical excision or debulking. The effect of treatment on visual development over time was evaluated. RESULTS: Patients presenting to our centre after 1 year of age were more likely to have amblyopia (75% vs. 0% if presenting at

Acute infectious conjunctivitis in childhood.

OBJECTIVE: To review the etiology, clinical features and management of acute infectious conjunctivitis in children after the newborn period. DATA SOURCES: Articles obtained from MEDLINE published before March 2000. DATA SELECTION AND EXTRACTION: Representative articles on the etiology and clinical features were selected. Twenty-four clinical trials were also selected. From these articles, the main findings from three placebo controlled trials and two comparative clinical trials involving children are summarized in detail. The main findings from 19 comparative clinical trials in adults are briefly summarized. DATA SYNTHESIS AND CONCLUSIONS: Acute infectious conjunctivitis caused by bacteria or viruses is a very common problem in children after the neonatal period. The most common bacterial pathogens are nontypable Haemophilus influenzae and Streptococcus pneumoniae. Diagnostic microbiology tests are not indicated for uncomplicated cases but may be useful for very young or very ill children if there is no response to initial therapy; for nosocomial cases; for cases suspected to be caused by sexually transmitted pathogens; and for outbreaks. Conjunctivitis is usually a mild, self-limited disease, but topical antibiotics are superior to placebo in reducing the duration and severity of symptoms. Most topical agents have equivalent efficacy; therefore, the selection of first-line agents should include inexpensive drugs with few adverse effects. Good choices include polymyxin/gramicidin, polymyxin/trimethoprim or sulfacetamide. Referral to an ophthalmologist should be considered in situations in which the diagnosis of uncomplicated conjunctivitis is in doubt or if there is no prompt response to therapy.

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

Primary congenital glaucoma (PCG) is an autosomal recessive disorder associated with unknown developmental defect(s) in the anterior chamber. Recently, we reported three distinct mutations in CYP1B1, the gene for cytochrome P4501B1, in 25 Saudi families segregating PCG. For this report, we analyzed 37 additional families and confirmed the initial finding of decreased penetrance. Mutations and intragenic single-nucleotide polymorphisms (SNPs) were also analyzed from direct sequencing of all CYP1B1 coding exons. Eight distinct mutations were identified: G61E, R469W and D374N, the most common Saudi mutations, account for 72, 12 and 7%, respectively, of all the PCG chromosomes. Five additional homozygous mutations (two deletions and three missense mutations) were detected, each in a single family. Affected individuals from five families had no CYP1B1 coding mutations, and each family had a unique SNP profile. The identification of eight distinct mutations in a single gene, on four distinct haplotypes, suggests a relatively recent occurrence of multiple mutations in CYP1B1 in Saudi Arabia. These data demonstrate decreased penetrance of the PCG phenotype in the Saudi population, because 40 apparently unaffected individuals in 22 families have mutations and haplotypes identical to their affected siblings. Two individuals were subsequently diagnosed with glaucoma and two others had abnormal ocular findings that are consistent with milder forms of glaucoma. Analysis of these 22 kindreds suggests the presence of a dominant modifier locus that is not linked genetically to CYP1B1. Linkage and Southern analyses excluded three candidate modifier loci.

Anomalies of motion perception in infantile esotropia.

PURPOSE: To quantify motion sensitivity in patients with infantile esotropia who, as a subgroup, have been previously reported to have abnormal oculomotor control. In addition, to probe abnormal binocular development as a factor underlying abnormal motion perception in infantile esotropia (IE), motion sensitivity was compared among participants with and without stereopsis. METHODS: Monocular sensitivity to leftward and rightward motion was assessed across the horizontal meridian, using partially coherent random dot kinematograms. Participants included 11 observers with IE, 5 observers with acquired esotropia, and 11 observers with normal eye alignment. RESULTS: Participants with IE showed no deficits in motion sensitivity to any visual field locations when motion thresholds were collapsed across direction. However, they showed an abnormal variation in directional anisotropy. Although sensitivity to centripetal motion was superior in both hemifields of control participants and in the temporal hemifields of participants with IE, a centrifugal bias was revealed in the nasal hemifields of IE. Stereoblind observers with acquired esotropia showed a normal centripetal directional anisotropy, whereas binocular observers with acquired esotropia showed directional anisotropy similar to that in the IE group. CONCLUSIONS: Motion perception, like oculomotor function in IE, is characterized by a variation of directional anisotropy for stimuli presented to the nasal hemifields. This finding supports the hypothesis that abnormal oculomotor control and motion perception in IE reflect a common disruption of the visual system. A similar variation of directional sensitivity in patients with acquired esotropia with normal stereopsis suggests that the interruption of binocularity is not the underlying cause of abnormal motion perception in IE.

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

The autosomal recessive disorder primary congenital glaucoma (PCG) is caused by unknown developmental defect(s) of the trabecular meshwork and anterior chamber angle of the eye. Homozygosity mapping with a DNA pooling strategy in three large consanguineous Saudi PCG families identified the GLC3A locus on chromosome 2p21 in a region tightly linked to PCG in another population. Formal linkage analysis in 25 Saudi PCG families confirmed both significant linkage to polymorphic markers in this region and incomplete penetrance, but it showed no evidence of genetic heterogeneity. For these 25 families, the maximum combined two-point LOD score was 15.76 at a recombination fraction of .021, with the polymorphic marker D2S177. Both haplotype analysis and homozygosity mapping in these families localized GLC3A to a 5-cM critical interval delineated by markers D2S2186 and D2S1356. Sequence analysis of the coding exons for cytochrome P4501B1 (CYP1B1) in these 25 families revealed three distinctive mutations that segregate with the phenotype in 24 families. Additional clinical and molecular data on some mildly affected relatives showed variable expressivity of PCG in this population. These results should stimulate a study of the genetic and environmental events that modify the effects of CYP1B1 mutations in ocular development. Furthermore, the small number of PCG mutations identified in this Saudi population makes both neonatal and population screening attractive public health measures.

A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.

BACKGROUND: Primary congenital glaucoma is an uncommon autosomal recessive condition that results from a developmental defect in the trabecular meshwork and anterior chamber angle, manifesting in the neonatal or infantile period with increased intraocular pressure, corneal enlargement and edema, and optic nerve cupping with consequent loss of vision. Nothing is known about its genetic location. PATIENTS AND METHODS: Linkage analysis was performed in 25 primary congenital glaucoma Saudi Arabian families with six polymorphic DNA markers on chromosome 1q in a region that has shown tight linkage to a locus for autosomal dominant juvenile-onset open angle glaucoma (GLC1A). Twenty-four of these families are highly consanguineous. RESULTS: Each family was shown separately to exclude the 8-centimorgan (cM) interval containing the GLC1A locus. Four families independently demonstrated overlapping regions of exclusion (theta < or = -2) that spanned the entire 8-cM interval. Assignment of a primary congenital glaucoma locus in this region could be excluded by a cadre of 21 families because a primary congenital glaucoma disease locus did not segregate in an autosomal recessive manner on haplotypes constructed with markers in this region. For all families, no affected individuals demonstrated homozygosity of alleles in regions tightly linked to the GLC1A locus. CONCLUSION: These results exclude the 8-cM region on chromosome 1q shown to contain the GLC1A locus from containing a disease locus for primary congenital glaucoma in this population of 25 Saudi Arabian families.

Recession of the superior oblique tendon for inferior oblique palsy and Brown's syndrome.

Superior oblique tendon recession of 12 to 14 mm was performed in five patients with inferior oblique muscle palsy and three patients with Brown's syndrome. The angle of deviation was decreased by an average of 18 prism dioptres in the worst field of gaze for the former group and by 17.3 delta for the latter group. As a secondary benefit of the procedure for the patients with inferior oblique palsy, any associated preoperative A-pattern was collapsed an average of 10 delta postoperatively. The procedure eliminated all abnormal head postures and improved versions and ductions for both groups. Symptoms of diplopia and torsion were resolved, and full fusional ability was maintained at preoperative levels in all fields of gaze for all patients. After an average follow-up period of 18 months none of the patients had manifested superior oblique palsy or other notable postoperative surgical complications. Theoretical advantages of superior oblique tendon recession include the potential for reversibility and reoperation if required, the possibility of asymmetric surgery and the potential to perform the procedure with an adjustable suture. The technique is an advantageous approach in the surgical treatment of these complicated cases.

Juvenile xanthogranuloma of the corneoscleral limbus.

Juvenile xanthogranuloma presenting as an isolated corneoscleral lesion is rare. We report such a case in a 5-year-old boy who required lamellar sclerokeratectomy to the level of Descemet's membrane. Ten months after treatment by total excision and lamellar corneoscleral grafting with donor tissue there was no evidence of recurrence. We discuss the clinical and histologic features of this disorder, the differential diagnosis and treatment options.

Recession of the superior oblique tendon in A-pattern strabismus.

We performed 9 to 12 mm of recession of the superior oblique tendon for A-pattern strabismus in 10 patients. The average preoperative A-pattern measured 29.4 prism dioptres (PD), and the average pattern correction was 29.3 PD. All patients had a residual pattern of 6 PD or less (average 2.3 PD). No patient experienced significant underaction of the superior oblique, and other surgical complications, such as ptosis, Brown's syndrome, and laceration of the vortex vein or superior rectus, did not occur. The procedure corrected 14 to 40 PD of A-pattern. The amount of pattern corrected was correlated with the size of the preoperative A-pattern but not with the total amount of recession done. No significant shift in esodeviation in primary position was noted in the patients who underwent only superior oblique recession. The procedure appears to be of particular value in patients with moderate superior oblique overaction. The advantages of recession of the superior oblique tendon include the potential for reversibility and reoperation, low risk of induced superior oblique palsy, allowance for asymmetric surgery and potential for adjustable suture technique.

Superior oblique and inferior rectus muscle injury following frontal and intranasal sinus surgery.

Chronic inflammatory sinus disease is a common process, sometimes requiring nasal and paranasal sinus surgery. Extraocular muscle dysfunction is a rare surgical complication of sinus surgery, but has been reported. Previous studies have been concerned with trauma to the medial rectus muscle resulting in severe paralysis or restriction. This study reports five patients with acquired strabismus and symptomatic vertical diplopia secondary to sinus surgery. In all patients, the resultant diplopia was disabling. Four patients had frontal sinus window surgery performed, with incisions placed in the supero-nasal quadrant of the orbit, below the eyebrow (a modified Lynch incision). Three patients acquired a superior oblique paresis and the fourth developed a Brown's syndrome. The location of the skin incision was critical to injury in the trochlear area. The fifth patient underwent a nasal polypectomy and antrostomy with secondary orbital hemorrhage and proptosis. A mild inferior rectus paresis was the result.

Familial congenital fourth cranial nerve palsy.

Few reports of hereditary transmission patterns in congenital superior oblique palsy have been made in the past. In this study, three families with congenital superior oblique palsies have been identified and examined. Two members of each family had a superior oblique palsy. After full history, eye examination, and sensory testing, the patterns in each family have been analyzed. Deviations varied from binocular fusion and orthophoria to large vertical deviations, especially in adduction. Sensory patterns were compatible with the congenital nature of the palsy. A discussion of possible causes for a congenital superior oblique palsy is offered and the congenital superior oblique palsies are analyzed. A definite genetic transmission pattern could not be found, but possible explanations are considered. Regardless of etiology, therapy for this problem is unchanged from that for all superior oblique palsies. Occurrences of congenital trochlear palsies in multiple family members should be considered when a patient with this problem is diagnosed.