An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

We report a sporadic case of congenital muscular dystrophy (CMD) in a 13-year-old girl with early manifestation of muscle weakness and hypotonia, severe contractures, bulbar syndrome, progressive external ophtalmoplegia, and white matter changes on magnetic resonance imaging (MRI) of the brain, but no mental defect. Serum creatine kinase (CK) level was normal. Muscle biopsy revealed a dystrophic picture with a prominent inflammatory infiltrate mimicking inflammatory myopathy-typical histological findings in CMD. Immunostaining showed normal expression of merosin, alpha and beta-dystroglycans. Mutation analyses of calpain3, dysferlin, and SEPN1 genes were negative. An electron microscopy revealed the accumulation of abnormally enlarged mitochondria located under the sarcolemma. Measurement of respiratory chain enzyme activities did not reveal any biochemical defect and mitochondrial genetic studies, including sequencing of the entire mitochondrial genome, were unremarkable. Phenotypic presentation of our patient is very unusual and differs considerably from other CMD variants.

Phototherapeutic keratectomy in children: 5-year results.

PURPOSE: To evaluate the efficacy and safety of phototherapeutic keratectomy (PTK) for the treatment of superficial corneal opacities, surface irregularities, epithelial instability, and reepithelialization failure in pediatric patients and study the visual and refractive changes after combined PTK and photorefractive keratectomy (PRK). SETTING: Department of Ophthalmology, Masaryk University Hospital, Brno, Czech Republic. METHODS: This retrospective clinical study comprised children who had PTK or PTK combined with PRK from September 1996 to January 2000. The goals of treatment were to improve visual acuity and reduce or eliminate subjective ocular discomfort (eg, pain, lacrimation, and photophobia). A Nidek EC-5000 excimer laser was used in PTK mode with a 3.0 to 6.0 mm optical zone and a 4.0 to 7.5 mm transition zone. RESULTS: Forty-one pediatric patients (41 eyes) were included. Twenty-three eyes had PTK only, and 18 eyes had PTK combined with PRK to reduce preoperative myopia (11 eyes) or hyperopia (7 eyes). The mean patient age was 11.4 years (range 8 to 18 years) and the mean follow-up, 4.8 years (range 3 to 6 years). The best spectacle-corrected visual acuity (BSCVA) improved in all patients, and episodes of ocular pain or discomfort, lacrimation, and photophobia diminished. The mean preoperative BSCVA of 6/38 (range 6/10 to 1/60) improved to 6/12 (range 6/6 to 6/38) at the last postoperative examination. Eight eyes gained 5 or more Snellen lines of BSCVA; 11 gained 4 lines, 9 gained 3 lines, 7 gained 2 lines, 5 gained 1 line, and 1 eye was unchanged. No eye lost a line of BSCVA. The mean preoperative spherical equivalent (SE) decreased from -5.32 to -1.16 diopters (D) in the 11 myopic eyes and from +4.72 to +1.51 D in the 7 hyperopic eyes within 3 years of the combined procedure. CONCLUSIONS: Phototerapeutic keratectomy is an effective and safe procedure for the treatment of various surface corneal disorders in children. It can improve best corrected visual acuity and eliminate ocular pain and irritation. Preoperative myopia and hyperopia were effectively reduced by a combination of PTK and PRK.

Visual results after primary intraocular lens implantation or contact lens correction for aphakia in the first year of age.

PURPOSE: The optimal role of intraocular lenses (IOLs) in infants remains a controversial topic. Some ophthalmologists advocate correction with a contact lens (CL), whereas others recommend an IOL correction. Our study compared visual acuity, ocular alignment, retreatment rate and binocular vision outcomes in children treated with these two methods at our clinic. METHODS: This study included 41 children with unilateral congenital cataract who underwent cataract surgery with posterior capsulorhexis and anterior vitrectomy, coupled with (IOL group, n=18) or without (CL group, n=23) primary IOL implantation. All infants underwent the first surgery during the first 12 months of their life and they were operated on in the period from 1994 to 1999. The mean age at surgery was 3.11+/-2.65 months (range: 28 days to 11 months). All patients were prescribed the same half-time reduced occlusion therapy. Good cooperation of the parents and good compliance with patching were the necessary conditions to include a patient in the study. Between January and February 2003, the final visual acuity and binocular vision outcomes were examined. RESULTS: The mean final visual acuity (logarithm of the minimum angle of resolution) of the operated eye was 0.43+/-0.33 for the IOL group and 0.58+/-0.39 for the CL group (p=0.14). The mean interocular difference in visual acuity was 0.22+/-0.29 for the IOL group and 0.56+/-0.31 for the CL group (p=0.042). The reoperation rate was 78% in the IOL group compared with 35% in the CL group (p=0.017). Esotropia or exotropia of more than 8 prism diopters were present in 55% of children (10/18) in the IOL group compared with 83% of children (19/23) in the CL group (p=0.039). CONCLUSIONS: We suggest that correction of aphakia after unilateral congenital cataract surgery with primary IOL implantation results in improved visual acuity, improved binocular vision outcome and less occurrence of strabismus, but a higher rate of complications requiring reoperation. Further studies with a larger pediatric patient group are necessary to confirm the optimal treatment of aphakia after unilateral congenital cataract extraction.