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Ophthalmic Manifestations in Patients with Syndromic Craniosynostosis

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Ophthalmic Manifestations in Patients with Syndromic Craniosynostosis Original Research Article DOI: 10.18231/2455-8478.2017.0055 Ophthalmic manifestations in patients with syndromic craniosynostosis Sujithra Haridas1,*, Vaishnavi Karthic2 1Assistant Professor, 2Resident, Dept. of Ophthalmology, Amrita School of Medicine (Affiliated to Amrita University), Kochi, Kerala *Corresponding Author: Email: [email protected] Abstract Context: Congenital craniofacial anomalies are a rare group of disease. Ophthalmological involvement in craniofacial synostosis ranges from mild aesthetic abnormality to sight threatening damage to optic nerve. Aim: Study the ophthalmic manifestations in patients with syndromic craniosynostosis. Materials and Methods: Patients diagnosed to have syndromic craniosynostosis underwent complete ophthalmic evaluation including visual acuity by age appropriate method, cycloplegic refraction, strabismus evaluation, anterior segment and fundus evaluation. Measurement of proptosis, inter pupillary, inter inner canthal and inter outer canthal distances were also done. Results: 22 patients were studied. 12(54.5%) were male and 10(45.5%) were female. 9(40.9%) had Crouzon syndrome, 8(36.4%) had Apert syndrome, 2(9.1%) each had Frontonasal dysplasia and Pfeiffer syndrome and 1(4.5%) had Antley-Bixler syndrome. All of them had some ophthalmic involvement. Hypertelorism was seen in 54.5%, telecanthus in 27.3%, proptosis was seen in 63.6%, 64.3% of which was non-axial; extra-ocular muscle abnormalities was seen in 72.7%, strabismus in straight gaze in 54.5%, ametropia was seen in 40.9%, visual impairment was seen in 18.2%, anterior segment and optic disc abnormalities were seen in 64.6% each. Conclusion: Ophthalmic involvement among the syndromes was more common with Crouzon syndrome. Ophthalmic evaluation should be an integral part of evaluation of the craniosynostosis patient. Keywords: Craniosynostosis, Apert syndrome, Crouzon syndrome. Introduction fissures, ptosis, lacrimal system abnormalities, Craniosynostosis is a premature closure of one or keratoconus, extra-ocular muscle abnormalities and more cranial sutures. Virchow in 1851 demonstrated that optic nerve abnormalities. Functional abnormalities are following closure of a suture the growth proceeded refractive errors, amblyopia and strabismus. parallel to it while it was arrested in the direction Abnormal protrusion of the eyeball is called perpendicular to it. The prevalence of the disease has proptosis. It can be axial or non-axial depending on the been estimated to be about 1 in 2000 to 5000 live position of the globe. In Indian population a value births.(1) The diagnosis and treatment of this condition is >19mm or a difference of more than 2mm between the important as the patients develop a series of two eyes is considered abnormal.(2) It is mainly a result complications affecting their neurological, visual and of mid face hypoplasia and Shallow orbits. social development. Increased interorbital distance is called The cause and presentation of Craniosynostosis is hypertelorism. Its measurement is based on the inter varied and heterogenous and has been mapped to several pupillary and inter canthal (outer and inner) distances for genes coding for the fibroblast growth factor receptors which normal values are available.(3,4) Telecanthus or the (FGFR) 1, 2 and 3. Craniosynostosis can either be lateral displacement of the medial canthi without bony syndromic or non-syndromic. Non-syndromic usually hypertelorism may occur. Epicanthal folds and ptosis of involves a single suture although complex multi sutural various degrees may also occur. Down-slanting synostosis can also occur without any recognizable palpebral fissure, caused by the asymmetry between the syndromes. Syndromic craniosynostosis usually growth of the frontal and maxillary portion of the face is involves multiple sutures – with a recognizable pattern seen in most syndromes.(5) Lacrimal duct abnormalities for each syndrome.(1) with nasolacrimal duct blockage are also found. Ophthalmological evaluation in a patient with Extra ocular muscle abnormalities are reported in craniofacial anomalies is mandatory due to the incidence close to 90% of syndromic cases. It can be structural or of ophthalmic abnormalities in these disorders, and also functional. FGFR are present on the extra-ocular because it serves as a reliable indicator for timing of muscles, which account for the structural surgery and follow-up. Ocular problems in craniofacial abnormalities.(5,6) Complete absence, anomalous synostosis may either be primary due to the insertion, bifid medial rectus, micro anatomical developmental disturbances or secondary as a result of anomalies have all been reported. Abnormal movement the altered anatomy; they may be structural or functional. of the eyes can also be present when there is no structural Structural manifestations include proptosis, abnormality. The most common are an apparent Superior hypertelorism or telecanthus, down-slanting palperal Oblique underaction, Inferior Oblique(IO) overaction IP International Journal of Ocular Oncology and Oculoplasty, July-September, 2017;3(3):193-198 193 Sujithra Haridas et al. Ophthalmic manifestations in patients with syndromic craniosynostosis and Lateral rectus (LR) underaction. Pattern strabismus, (LogMAR 0.3) in at least one eye. Amblyopia was especially V pattern is the rule rather than the exception defined as a difference of 2 or more lines between the 2 in most syndromicsynostosis.(5,6) eyes or visual acuity ≤6/12 with no structural Anterior segment abnormalities reported include abnormalities to explain the same. keratoconus, exposure keratopathy, eccentric pupil, iris All patients underwent retinoscopy after attaining coloboma, anterior chamber abnormalities including cycloplegia with Homatropine 2% eye drops instilled Peter’s anomaly, thick irides and ciliary bodies and twice 20 minutes apart. Spherical equivalent was derived shallow anterior chamber with occluded angles. from the retinoscopy value and was considered for Patients with craniosynostosis are susceptible to diagnosing refractive errors. Ametropia - hyperopia if raised intra-cranial tension which can lead to optic spherical equivalent was ≥+2D for age more than 5 years atrophy and visual failure. Screening for papilledema is and ≥ +3D for age less than 5 years, myopia if the one of the earliest and most reliable methods for spherical equivalent was ≥-1.5D, astigmatism if the detecting raised intracranial tension. cylindrical value was ≥ 1.5D and anisometropia if the Apart from the structural abnormalities the visual difference was > 1.5 D between the two eyes. Ductions function in these patients is also compromised. The and versions were checked in all 9 gazes. Strabismus visual loss in these patients can be ascribed to amblyopia, when present was measured with Hirschberg and optic neuropathy or exposure keratitis. Amblyopia could alternate prism bar cover test. Anterior segment was be secondary to uncorrected refractive errors, stimulus examined under slit lamp and fundus using indirect deprivation or strabismic.(7) ophthalmoscopy. Khan SH et al(7) retrospectively reviewed a series of Interpupillary distance, inter innercanthal and inter 141 diagnosed cases of Crouzon, Apert, Pfeiffer and outercanthal distance were measured with a transparent Saethre-Chotzen syndromes. The mean age at millimeter scale. Bony inter orbital distance was presentation was 23.3 months. 40.3% of patients had measured from the axial cut in Computerised astigmatism ≥1D, 64% of which was oblique and was Tomography (CT) (Siemen’s 64 slice multi-detected more common in Apert’s syndrome (52.4%). computerized tomography scanner – 1mm axial and Anisometropia of more than 1D was found in 18% coronal cuts)passing through the recti and lens. The patients. Horizontal strabismus was found in 70% - 38% distance between a point on each lacrimal bone exotropia and 32% esotropia. 44% had alphabet pattern, representing the anterior end of the medial orbital wall is 95% of which was a V pattern. 39.8% had visual acuity taken as the anterior inter-orbital distance.(4) Orbital 6/12 or less in their better eye. orientation was checked in the coronal section of CT. If the angle between two lines drawn through the superior Aims and Objectives and inferior recti of each eye respectively was beyond Ophthalmic manifestations in patients with 170 to 10 degrees, it was defined as excyclorotation.(10) syndromic craniosynostosis. Values published by Lakshminarayana P(3) and To establish the role of ophthalmic evaluation for Waitzmann A(4) were taken as normal and compared with craniosynostosis patients. that of study groups. Normal values based on age is given in the Table 1. Materials and Methods Hypertelorism was defined as an increased The study was conducted at the Department of interpupillary distance (IPD) compared to age matched Ophthalmology, Amrita Institute of Medical Sciences, normal. Telecanthus is an increased inter innercanthal Kochi, Kerala on an outpatient basis on patients distance (IICD) with normal IPD. A value beyond the diagnosed to have Craniofacial synostosis based on higher end of normal range for age matched normal was clinical examination along with Computerized considered as hypertelorism and below the lower end tomography or Gene mutation study. was considered as hypotelorism. Each patient underwent a complete ophthalmic Proptosis was defined as an exophthalmometry evaluation that included age, sex, diagnosis based on the value >17 mm for age <3 years, >19 mm for Age >3 suture
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