Vitreous haemorrhage in children.

BACKGROUND: Vitreous haemorrhage in early childhood is rare and may cause few symptoms. HISTORY AND SIGNS: Three children (aged 1, 2 and 6 years) with no history of trauma, presented with squint or unreactive pupil. Unilateral dense vitreous haemorrhage was found in all three children. THERAPY AND OUTCOME: Rapid clearing of the vitreous opacities within a few weeks made surgical intervention unnecessary in two children. A 6-year-old boy underwent a vitrectomy. Thorough investigations revealed angle recession, retinal pigment epithelium (RPE) scars and an orbital floor bone fracture, respectively, suggesting ocular trauma as the cause for the haemorrhage in all three cases. With early amblyopia treatment, the visual outcome was good. CONCLUSION: Trauma appears to be a likely cause for vitreous haemorrhage in small children. Even if there is a risk for the development of amblyopia, observation may be a reasonable approach in some cases, since even dense vitreous haemorrhage may resorb rapidly in young children.

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.

AIMS: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. METHODS: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. RESULTS: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. CONCLUSION: This is the third report of congenital cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.

[Loa loa infection of the eye -- a case series]. / Loa-Loa-Infektion des Auges -- eine Fallserie.

BACKGROUND: With increasing migration tropical diseases such as Loa loa infections are becoming more frequent in Europe. While the ocular diagnosis is usually straight forward, systemic work-up and treatment requires an interdisciplinary approach. We review the diagnostic and therapeutic work-up of ocular Loa loa infections based on a series of 4 cases that presented between 1998 and 2004. HISTORY AND SIGNS: The first symptoms in all cases were ocular irritations occurring 2 months to 8 years after a trip to West Africa. One case presented with a swollen upper eyelid without a visible worm. In three patients microfilariae were detected in the blood. THERAPY AND OUTCOME: In two cases visible subconjunctival worms could be removed under the slit lamp. Three cases required systemic treatment as inpatients while one case could be observed without systemic treatment. All 4 cases had a favourable outcome with complete eradication of the disease. CONCLUSION: Surgical removal of adult Loa loa worms from the subconjunctival space only improves the ocular symptoms. An interdisciplinary approach (ophthalmology, infectious disease and parasitology) for a systemic work-up and treatment is usually required.

Can eyelashes migrate?

BACKGROUND: Intraocular cilia after penetrating injuries or surgery causing acute or subclinical inflammation are a well-known problem. In a healthy young patient with acute intraocular inflammation but no history of trauma the diagnosis may be missed initially. HISTORY AND SIGNS: A young farmer presented with severe eye pain, scleritis and a circumscribed chorioretinal and vitreous infiltrate. There was no history or evidence of eye trauma or systemic disease. THERAPY AND OUTCOME: Staphylococci were identified from vitreous material. During vitreous surgery an intraretinal cilium was found and removed. After intravitreal antibiotic treatment, the vision completely recovered. CONCLUSION: Acute intraocular inflammation should alert the ophthalmologist to consider an intraocular foreign body as a possible cause even if there is no history of trauma.

The value of white blood cell count in patients with swollen discs.

BACKGROUND: A broad differential diagnosis has to be considered in a patient with swollen discs. Myeloproliferative disorders such as leukemia and lymphoma can in rare cases cause infiltrative optic neuropathy. HISTORY AND SIGNS: Two patients initially presented with slowly progressive severe visual loss. History was unremarkable except for previously noted slightly elevated white blood cell count for which - according to their general physicians - no treatment or work-up was required. At presentation, bilateral disc swelling was present. Magnetic resonance imaging showed enhancement of the entire optic nerves sparing the chiasm. No other intracranial lesion was found. Cerebrospinal fluid contained no malignant cells. THERAPY AND OUTCOME: After bone marrow aspiration the diagnosis of non-Hodgkin's lymphoma and granulocytic leukemia, respectively, was made. Treatment resulted in visual recovery. CONCLUSION: Work-up in a patient with swollen discs should always include white blood cell count. If the result is abnormal further exploration should be pursued. Elevated white blood cell count may be the only hint of optic nerve infiltration caused by a myeloproliferative disorder and its treatment can result in remarkable recovery.

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

AIMS: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia. METHODS: 38 families with autosomal dominant or recessive paediatric cataract were examined. Three large families were studied by linkage analysis. Candidate genes at regions providing significant LOD scores were sequenced. Single stranded conformational polymorphism (SSCP) analysis was used to screen five crystallin genes in the probands, followed by direct sequencing of observed electrophoretic shifts. Mutations predicted to affect the coding sequence were subsequently investigated in the entire pedigree. RESULTS: A LOD score of 3.72 was obtained at the gamma-crystallin locus in one pedigree. Sequencing revealed a P23T mutation of CRYGD, found to segregate with disease. A splice site mutation at the first base of intron 3 of the CRYBA1/A3 gene segregating with disease was identified by SSCP in another large family. Five polymorphisms were also detected. CONCLUSIONS: Although mutations in the five crystallin genes comprehensively screened in this study account for 38% of paediatric cataract mutations in the literature, only two causative mutations were detected in 38 pedigrees, suggesting that crystallin mutations are a relatively rare cause of the cataract phenotype in this population.

Aetiology of congenital and paediatric cataract in an Australian population.

BACKGROUND/AIM: Paediatric cataract is a major cause of childhood blindness. Several genes associated with congenital and paediatric cataracts have been identified. The aim was to determine the incidence of cataract in a population, the proportion of hereditary cataracts, the mode of inheritance, and the clinical presentation. METHODS: The Royal Children's Hospital and the Royal Victorian Eye and Ear Hospital have a referral base for almost all paediatric patients with cataracts in south eastern Australia. The database contains cases seen over the past 25 years. The medical histories of these patients were reviewed. RESULTS: 421 patients with paediatric cataract were identified, which gives an estimated incidence of 2.2 per 10,000 births. Of the 342 affected individuals with a negative family history, 50% were diagnosed during the first year of life, and 56/342 (16%) were associated with a recognised systemic disease or syndrome. Unilateral cataract was identified in 178/342 (52%) of sporadic cases. 79 children (from 54 nuclear families) had a positive family history. Of these 54 families, 45 were recruited for clinical examination and DNA collection. Ten nuclear families were subsequently found to be related, resulting in four larger pedigrees. Thus, 39 families have been studied. The mode of inheritance was autosomal dominant in 30 families, X linked in four, autosomal recessive in two, and uncertain in three. In total, 178 affected family members were examined; of these 8% presented with unilateral cataracts and 43% were diagnosed within the first year of life. CONCLUSIONS: In the paediatric cataract population examined, approximately half of the patients were diagnosed in the first year of life. More than 18% had a positive family history of cataracts. Of patients with hereditary cataracts 8% presented with unilateral involvement. Identification of the genes that cause paediatric and congenital cataract should help clarify the aetiology of some sporadic and unilateral cataracts.