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ABSTRACT: To report the similarity of retinal findings in an infant who sustained an accidental head injury and an infant with non-accidental head trauma.
Two male infants sustained head injuries with skull fractures. Case 1 was an accidental head injury and case 2 was a non-accidental head injury.
On examination, in case 1, there were four superficial retinal haemorrhages in the right fundus. The left eye had a haemorrhagic optic disc oedema with extensive retinal haemorrhages, retinal folds, and schitic cavities within the retina at the posterior pole. In case 2, the right fundus had a single blot haemorrhage at the posterior pole. The left fundus revealed optic disc haemorrhage and oedema with extensive retinal haemorrhages. There was a haemorrhagic retinoschisis with a retinal fold.
The two cases, one with accidental and the other with non-accidental injury, demonstrate very similar ophthalmic findings. This supports the argument that there may be no retinal signs seen exclusively in non-accidental head injury.
Eye (London, England) 12/2008; 22(12):1514-6. · 1.97 Impact Factor
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ABSTRACT: To report the association of severe chorioretinal dysplasia, hydranencephaly, microcephaly, and intracranial calcification in children with no evidence of intrauterine infections.
Two unrelated female infants with visually inattentive behaviour, hydranencephaly, and intracranial calcification were referred for an ophthalmological opinion.
The fundus examination and computerised tomograms (CT scans) of head were similar in both children. There was bilateral extensive chorioretinal dysplasia, intracranial calcifications, and hydranencephaly. Serology was negative for acquired intrauterine congenital infections.
We report two cases that may represent a new syndrome or the more severe end of the spectrum of the pseudo-TORCH (toxoplasma, rubella, cytomegalovirus, and herpes simplex) syndrome. The association of chorioretinal dysplasia with the pseudo-TORCH syndrome has not been reported previously.
Eye 06/2008; 22(5):730-3. · 1.85 Impact Factor
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ABSTRACT: A recent report has highlighted the decreasing prevalence in recent years of severe intraventricular haemorrhage (IVH) in very low birthweight (VLBW) infants (<1500 g). This study attempted to identify the severity of the grade of IVH in infants with stage 3 retinopathy of prematurity (ROP), and to re-examine the association between threshold ROP and IVH.
This was a retrospective study carried out over 3 years, between December 1995 and December 1998 of neonates admitted to a single neonatal intensive care unit. 28 infants with stage 3 ROP were identified from the ROP screening database. Cranial ultrasound scans were available on 24 of these infants. The scans were reviewed and the severity of IVH was graded from grade 1 to grade 4. The birth weight, sex, ethnic origin, and gestational age of the babies were recorded. The number of infants progressing to threshold disease and the treatment provided was documented.
The 24 infants had a median gestational age of 26 weeks (range 24-28 weeks) and a median birth weight of 762.5 g (range 540-1010 g). 17 infants were treated for threshold disease. 13 infants (54.2%) had IVH, of these eight (61.5%) had grade 1, two (15.4%) had grade 2, one (7.7%) had grade 3, and two (15.4%) had grade 4. 12 of the 13 infants (92.3%) with IVH had treatment with laser or cryotherapy for ROP compared with five of the remaining 11 infants (p = 0.023, Fisher's exact test). These data provide little evidence of any association between IVH and each of ethnic origin (p = 0.856), sex (p = 1), birth weight, or gestational age (p = 0.56 and p = 0.06 respectively) in infants with stage 3 ROP.
These data provide strong evidence (p = 0. 023) of an association between the presence of IVH and treatment of threshold ROP. Although the numbers in this study are small the majority of infants with stage 3 ROP had grade 1 IVH, which heralds a more favourable neurological outcome. An association between the severity of ROP and severity of IVH was not demonstrated. With improvements in neonatal care and a reduction in the prevalence of severe IVH, there appears to be a weakening of the previously reported association between severe IVH and severe ROP. However, the presence of even a minor grade of IVH may be a significant risk factor for threshold ROP once stage 3 disease is encountered.
British Journal of Ophthalmology 07/2000; 84(6):596-9. · 2.90 Impact Factor
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ABSTRACT: To re-examine the risk of children born by assisted conception developing stage 3 retinopathy of prematurity (ROP) and to define whether the risk of ROP varies with the method of assisted conception.
This was a retrospective study carried out between December 1995 and December 1998 of infants in a single neonatal unit serving the Brent and Harrow area of North West Thames requiring screening and treatment of ROP. The infants screened were identified from the ROP screening database. Those conceived by in vitro fertilisation (IVF) and other forms of assisted conception were identified by reviewing the neonatal notes and the maternal obstetric records. Birth weight, gestational age and the type of assisted conception were recorded. The presence or absence of any stage of ROP, its location and severity and the cases requiring treatment were recorded.
One hundred and seventy-nine infants fulfilled the screening criteria during this period. Acute ROP was detected in 32.4% (58 infants) and stage 3 ROP developed in 15.6% (28 infants). Twenty-one infants (11.7%) were born after assisted conception, with 12 (6.7%) being conceived by IVF. The others were conceived on clomiphene (8) or after intrauterine insemination (1). Assisted conception accounted for 21.4% of all those reaching stage 3 disease and 28.6% of those infants requiring treatment. Of the 12 infants conceived by IVF, 41.6% (5 infants) developed acute ROP which progressed to threshold ROP in all infants (100%). Of the assisted conception babies requiring treatment for ROP, 83.3% were conceived by IVF. The other child had been conceived on clomiphene. The gestational age and birth weight of the IVF infants reaching stage 3 ROP were 26.6 +/- 0.89 weeks and 937 +/- 170.2 g. The gestational age and birth weight in the rest of the infants reaching stage 3 ROP were lower than in those conceived by assisted conception (25.739 +/- 1.13 weeks and 735.29 +/- 117.70 g); however, this did not approach statistical significance (p = 0.35 and p = 0.13, respectively).
In this study 11.7% of the group requiring screening were conceived by assisted conception. Of all babies requiring treatment for ROP, 28.6% were born after assisted conception. Of the assisted conception group, 83.3% were conceived by IVF. Assisted conception using IVF rather than other techniques appears to be the major risk factor for the development of threshold ROP. We would advise increased vigilance when screening babies conceived by the IVF methods of assisted conception.
Eye 07/2000; 14 ( Pt 3A):330-3. · 1.85 Impact Factor
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ABSTRACT: To study the visual results and complications in patients treated by vitrectomy and lensectomy for posterior dislocation of lens fragments during phacoemulsification.
University Hospital of Wales, Cardiff, United Kingdom.
This retrospective study was carried out between 1995 and 1998. Eighteen patients had a vitrectomy and lensectomy for posterior dislocation of lens fragments. The referral patterns, the presenting features, and the complications were recorded. The patients were invited for a final review to assess and record the final visual outcome and for a detailed ocular examination.
The median age of the patients was 76 years. The youngest patient was 62 years and the oldest, 87 years. The median time of referral was 1 day (range 0 to 67 days). The median timing of the surgery was 6 days (range 2 to 77 days); however, 5 patients had a vitrectomy-lensectomy performed at the time of cataract surgery (day 0). Uveitis was present in 100% of patients, corneal edema in 76.0%, and ocular hypertension in 38.4%. Median follow-up was 12 months (range 6 to 34 months). Visual acuity was 6/12 or better in 83.3% of patients. Two patients were treated for retinal tears, 2 had postoperative uveitis, 2 had macular pucker, and 2 had ocular hypertension. There was no statistically significant association between final visual outcome and grade of the surgeon performing the cataract operation, the presence of an intraocular lens at the time of cataract surgery, the timing of the vitrectomy-lensectomy, or the presence of previtrectomy uveitis or high intraocular pressure (IOP).
Early recognition of dislocated lens fragments and prompt assessment for vitrectomy-lensectomy produced excellent visual results and few complications. The corneal edema, uveitis, and high IOP resolved with the vitrectomy-lensectomy.
Journal of Cataract [?] Refractive Surgery 07/2000; 26(6):832-7. · 2.26 Impact Factor
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ABSTRACT: To determine by linkage analysis the chromosomal locus responsible for autosomal dominant congenital cataract (ADCC) in a four-generation Welsh pedigree.
The family pedigree was traced through two members of the family attending the hospital for treatment of their cataracts. Twenty-five members of the family were examined ophthalmologically and blood was collected with consent for genetic linkage analysis.
Fifteen members of this family were known to have bilateral congenital cataracts, of whom 11 had a cataract extraction prior to examination. The youngest member of the pedigree was 5 years old and the oldest was 78 years old. Four children, unoperated at the time of this study, had a phenotypically identical morphology of their zonular pulverulent congenital cataracts. The known loci for congenital cataract were excluded. Significant lod scores for markers in the 13q11-13 region were detected with a Zmax of 3.59 D13S1236 (theta = 0.00).
We report linkage of an ADCC of the zonular pulverulent type to chromosome 13q11-13 in a four-generation family.
Eye 05/2000; 14 ( Pt 2):172-5. · 1.85 Impact Factor
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ABSTRACT: We describe a four-generation family with fully penetrant, autosomal dominant, congenital cataracts (ADCC), presenting with morphologically homogeneous "zonular pulverulent" cataracts (CZP) and typical early-onset phenotype. Linkage analysis was performed with a panel of polymorphic markers mapped to all genomic regions of ADCC susceptibility. Contiguous significant two-point lod scores were generated at autosomal region 13q11-q13 and further linkage and haplotype studies confined the disease locus to 13q11, supporting a previous linkage of CZP (specifically CZP3) to 13q11. Mutations in a gap-junction protein, connexin 46 (alphaa3 subunit or GJA3), have recently been reported as being linked to the 13q11 region. Mutational analysis of connexin 46 in our family revealed a C-->T at position 560 (P187L) of the cDNA sequence creating a novel MnlI restriction site that segregated with affected members of the pedigree. This family represents a second report of CZP3 linkage to 13q and is associated with a novel mutation in the connexin 46 (GJA3) gene.
Human Genetics 02/2000; 106(2):206-9. · 5.07 Impact Factor
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ABSTRACT: We describe a four-generation family with fully penetrant, autosomal dominant, congenital cataracts (ADCC), presenting with morphologically homogeneous "zonular pulverulent" cataracts (CZP) and typical early-onset phenotype. Linkage analysis was performed with a panel of polymorphic markers mapped to all genomic regions of ADCC susceptibility. Contiguous significant two-point lod scores were generated at autosomal region 13q11-q13 and further linkage and haplotype studies confined the disease locus to 13q11, supporting a previous linkage of CZP (specifically CZP3) to 13q11. Mutations in a gap-junction protein, connexin 46 (!a3 subunit or GJA3), have recently been reported as being linked to the 13q11 region. Mutational analysis of connexin 46 in our family revealed a CMT at position 560 (P187L) of the cDNA sequence creating a novel MnlI restriction site that segregated with affected members of the pedigree. This family represents a second report of CZP3 linkage to 13q and is associated with a novel mutation in the connexin 46 (GJA3) gene.
Human Genetics 01/2000; 106(2):206-209. · 5.07 Impact Factor
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ABSTRACT: To test the potential ability of the MTI photoscreener to facilitate screening for significant refractive errors in children and young adults with severe learning disabilities.
Thirty-eight patients with severe learning disabilities from a special school were examined with the photoscreener, and underwent cycloplegic refraction, an ophthalmological and an orthoptic examination. The age at examination, the cause of learning disability, the pupil size, the number of photographs required for accurate interpretation, the co-operation of the subject and the presence or absence of strabismus were recorded. An educational psychologist had performed a psychological assessment on all the children. The results of the cycloplegic retinoscopy were compared with the photorefraction results.
A photorefraction was possible in 37 patients and cycloplegic refraction in all the patients. The patients had severe learning difficulties with an intelligence quotient of less than 50. All the patients had behavioural problems, 9 patients had associated cerebral palsy, 8 had chronic epilepsy, 1 patient was brain damaged from a non-accidental injury and 1 from a road traffic accident. The mean age of the patients was 10.0 +/- 4.9 years (range 3-18 years), the average pupil diameter during photoscreening was 6.1 +/- 0.9 mm (range 4-8 mm) and the average number of photographs required for each subject was 2.1 +/- 0.9 (range 1-4). The photoscreener detected 10 patients with a manifest strabismus. There was one false positive and one false negative result giving a sensitivity of 92.8% and a specificity of 90%.
The examination of children with severe learning disabilities for refractive errors can be extremely difficult. The MTI photoscreener is an effective means of screening such children and young adults for refractive errors and strabismus so that the children with these abnormalities may be targeted for a more detailed evaluation.
Eye 07/1999; 13 ( Pt 3a):363-8. · 1.85 Impact Factor
