ABSTRACT
We describe two cases with complaints of atypical headache who were initially diagnosed as having psychiatric problems, but who, after careful evaluation, were found to have an underlying eye disorder. Both patients were known to have an ophthalmic history. Patient A, a 21-year-old female, presented with severe headache, which was so disabling that she was declared unfit for work. A diagnosis of tension headache was made and she received psychological treatment with neurofeedback, homeopathy and acupuncture, which had no effect. Patient B, a 26-year-old male, complained of extreme photophobia, nausea and dizziness. The patient was diagnosed as having a conversion disorder and was admitted to a psychiatric clinic and given psychotropic treatment. Careful ophthalmological examination revealed that an ocular deviation was causing the symptoms in both patients and could be treated appropriately with strabismus surgery. These cases emphasise the importance of a thorough general medical and ophthalmic history and proper examination at all times without putting a psychiatric stigma on the patient.
Subject(s)
Esotropia/complications , Exotropia/complications , Headache/etiology , Adult , Diagnosis, Differential , Esotropia/diagnosis , Esotropia/therapy , Exotropia/diagnosis , Exotropia/surgery , Female , Humans , Male , Mental Disorders/diagnosis , Nausea/etiology , Young AdultABSTRACT
PURPOSE: To evaluate the performance of the autorefractor Retinomax K-plus2 and the photoscreener plusoptiX S08 in measuring refractive errors by comparing them with cycloplegic retinoscopy (CR) and to assess limitations associated with their use. METHODS: Cross-sectional study to compare data from CR, performed by an orthoptist, to data from Retinomax K-plus2 and plusoptiX S08 performed by a lay screener. Sensitivity and specificity for the detection of significant refractive errors were determined according to American Academy of Pediatric Ophthalmology and Strabismus criteria. RESULTS: Two hundred children were included, with a mean age of 5.2 ± 2.6 years (3 months to 11 years). Compared to CR, the plusoptiX S08 showed a mean difference of -1.13 ± 1.25 D (95% limits of agreement [LOA], -3.59 to +1.32) for spherical equivalent (SE) and -0.23 ± 0.53 D (LOA, -1.28 to +0.81) for the cylinder. Mean difference for the Retinomax K-plus2 before cycloplegia was -0.08 ± 0.58 D (LOA, -1.23 to +1.06) for SE and 0.03 ± 0.38 D (LOA, -0.72 to +0.78) for the cylinder; after cycloplegia -2.11 ± 1.64 D (LOA, -5.33 to +1.10) for SE and -0.06 ± 0.47 D (LOA, -0.98 to +0.86) for the cylinder. Sensitivity for detecting hyperopia >3.5 D with the plusoptiX S08 was 33.3%, the Retinomax before cycloplegia 31.0% and after cycloplegia 84.6% and high for detecting myopia, astigmatism, and anisometropia. CONCLUSIONS: Retinomax K-plus2 and plusoptiX S08 have high sensitivity for the detection of myopia, astigmatism, and anisometropia compared to cycloplegic retinoscopy; however, when used without cycloplegia, hyperopia is underestimated.
Subject(s)
Ophthalmology/standards , Orthoptics/standards , Refractive Errors/diagnosis , Retinoscopy/methods , Vision Screening , Anisometropia/diagnosis , Astigmatism/diagnosis , Child , Child, Preschool , Cross-Sectional Studies , Humans , Hyperopia/diagnosis , Infant , Mydriatics , Myopia/diagnosis , Reproducibility of Results , Sensitivity and Specificity , Vision Screening/instrumentation , Vision Screening/methods , Vision Screening/standardsABSTRACT
Marfan syndrome (MFS) is a dominant disorder with a recognizable phenotype. In most patients with the classical phenotype mutations are found in the fibrillin-1 gene (FBN1) on chromosome 15q21. It is thought that most mutations act in a dominant negative way or through haploinsufficiency. In 9 index cases referred for MFS we detected heterozygous missense mutations in FBN1 predicted to substitute the first aspartic acid of different calcium-binding Epidermal Growth Factor-like (cbEGF) fibrillin-1 domains. A similar mutation was found in homozygous state in 3 cases in a large consanguineous family. Heterozygous carriers of this mutation had no major skeletal, cardiovascular or ophthalmological features of MFS. In the literature 14 other heterozygous missense mutations are described leading to the substitution of the first aspartic acid of a cbEGF domain and resulting in a Marfan phenotype. Our data show that the phenotypic effect of aspartic acid substitutions in the first position of a cbEGF domain can range from asymptomatic to a severe neonatal phenotype. The recessive nature with reduced expression of FBN1 in one of the families suggests a threshold model combined with a mild functional defect of this specific mutation.
Subject(s)
Aspartic Acid/genetics , Epidermal Growth Factor/chemistry , Genes, Recessive/genetics , Microfilament Proteins/chemistry , Microfilament Proteins/genetics , Mutation, Missense/genetics , Adolescent , Adult , Amino Acid Substitution/genetics , Child , Family , Female , Fibrillin-1 , Fibrillins , Humans , Infant , Male , Middle Aged , Models, Molecular , Pedigree , Protein Structure, Tertiary , Structure-Activity Relationship , Young AdultABSTRACT
PURPOSE: To measure the change in horizontal excursion and improvement of abduction in Duane's retraction syndrome type I after transposition of both vertical rectus muscles and recession of the medial rectus muscle in the affected eye. PATIENTS AND METHODS: This was a retrospective study of patients undergoing surgery for Duane's retraction syndrome type I. Thirty-six patients were treated by transposition of both vertical rectus muscles in combination with medial rectus recession of the affected eye. Head posture, binocular vision, abduction and adduction of the affected eye, and angle of strabismus were measured before and after surgery. RESULTS: After surgery, abduction improved by 15.9 degrees +/- 8.1 degrees (mean +/- standard deviation) and adduction decreased by 5.9 degrees +/- 7.2 degrees. Horizontal excursion improved from 43.1 degrees +/- 8.8 degrees to 53.1 degrees +/- 11.8 degrees. One patient had signs of anterior segment ischemia (ie, enlarged, fixed oval pupil and cells in the anterior chamber), which disappeared after local steroid eye drops were administered. CONCLUSIONS: Surgery enlarges the range of horizontal excursion of the affected eye and causes only a limited decrease in adduction. One patient developed transient anterior segment ischemia. Vertical muscle transposition combined with medial rectus recession is an effective procedure to improve horizontal excursion and abduction in patients with Duane's retraction syndrome type I.
Subject(s)
Duane Retraction Syndrome/surgery , Oculomotor Muscles/transplantation , Adolescent , Adult , Child , Child, Preschool , Duane Retraction Syndrome/physiopathology , Eye Movements , Female , Humans , Infant , Male , Middle Aged , Oculomotor Muscles/physiopathology , Posture , Retrospective Studies , Vision, BinocularABSTRACT
UNLABELLED: Two young boys had a severe uveitis which was difficult to treat. They both developed psoriasis located in the pubic area almost 1 year and several years later respectively. One boy also developed arthritis of an intermittent character. Both boys were ANA and HLA-B27 negative. CONCLUSION: in children, the possible association between uveitis and psoriasis with or without arthritis has to be kept in mind.
