Purpose: To describe the spectrum of adnexal and ophthalmologic features in spina bifida.
Methods: A retrospective review of the medical records of 73 patients was conducted. Data concerning ocular motility, palpebral fissure orientation, presence and axis of astigmatism, visual acuity, amblyopia, and stereopsis were analyzed.
Results: Forty-three (59%) of the 73 patients had strabismus: 28 (65%) had esotropia, 12 (28%) had exotropia, and 3 (7%) had orthotropia in primary gaze and a significant A-pattern. Of the strabismic patients, 20 (47%) had an A-pattern, of which 13 (65%) demonstrated overdepression in adduction. Twenty-seven (84%) of the 32 patients with documented palpebral fissure orientation had exaggerated up-slanting palpebral fissures. Forty-nine (77%) of 64 patients exhibited astigmatism greater than 0.75 D in at least 1 eye, with a mean power of 1.6 D. The axis of cylinder was oblique in 76% of these patients. The astigmatic axis was consistently oriented perpendicular to the eyelid fissure orientation in the group of patients with up-slanting palpebral fissures, with the mean axis of cylinder being incyclorotated (OD axis, 77; OS axis, 108). Up-slanting palpebral fissures were associated with a 15-fold increased chance that the axis of cylinder would be incyclorotated (P =.07, chi-square test). An orbital computed tomographic (CT) scan of a spina bifida patient with A-pattern esotropia, overdepression in adduction, and up-slanting palpebral fissures demonstrated significant incyclorotated extraocular muscle pulley heterotopy.
Conclusions: Exaggerated up-slanting palpebral fissures are a prominent feature in spina bifida. Up-slanting palpebral fissures in spina bifida patients are associated with incyclorotated oblique astigmatism, A-pattern strabismus, and overdepression in adduction. These associations might be related to an anomaly of orbital skeletal or extraocular muscle pulley development. Further prospective study is encouraged.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1067/mpa.2002.129042 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Xia-Gibbs Syndrome: A Review of Literature.
Cureus
December 2020
Paediatric Neurology, Kids Care Paediatric Neurology Center, Raipur, IND.
Xia-Gibbs syndrome (XGS) is a rare genetic disorder that has been discovered as a distinct clinical entity in the recent past. The occurrence has been attributed to the mutation of AT Hook DNA binding motif Containing 1 (AHDC1) gene that is carried on chromosome 1p36. The concerned gene participates in deoxyribonucleic acid (DNA) repair apart from other crucial functions.
View Article and Find Full Text PDFComplex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.
Hum Genet
December 2020
Institute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan.
The chromosomal region critical in Down syndrome has long been analyzed through genotype-phenotype correlation studies using data from many patients with partial trisomy 21. Owing to that, a relatively small region of human chromosome 21 (35.9 ~ 38.
View Article and Find Full Text PDFLanguage, neurodevelopment, and behavior in Angelman syndrome: a case report.
Codas
August 2019
Programa de Pós-graduação em Fonoaudiologia, Faculdade de Odontologia de Bauru - FOB - Bauru (SP), Brasil.
Purpose: This study aimed to present findings on language, behavior, and neurodevelopment in a girl diagnosed with Angelman Syndrome, evaluated when she was three and eight years old.
Methods: The following evaluation instruments were used: Observation of Communication Behavior, Early Language Milestone (ELM) Scale, and Denver Developmental Screening Test, 2nd edition (DDST-II).
Results: In this case report, presence of AS phenotype signals such as wide mouth and wide-spaced teeth, tongue thrusting, strabismus, up slanting palpebral fissures, and sialorrhea are verified.
In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p.
View Article and Find Full Text PDFA 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features.
Congenit Anom (Kyoto)
November 2016
Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up-slanting palpebral fissures, hypertelorism, epicanthic folds, anteverted nares, simple philtrum, thin upper lip vermilion, high arched palate, posteriorly rotated ears, and overlapping toes in his right foot.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!