Unusual case of globe perforation: the brittle cornea without systemic manifestations

Joshi, Shilpa Ajit; Uppapalli, Shalomith; More, Pranav; Deshpande, Madan

doi:10.1136/bcr-2016-215722

Cited by 6 publications

(5 citation statements)

References 16 publications

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“…Two did not report on EDS: one described dental treatment in a child with Keratitis-ichthyosis-deafness syndrome; the other was a cohort study on dentinogenesis imperfecta not including patients with EDS ( 19 , 20 ). Six studies did not report on EDS dental manifestations ( 21 ), but on unspecific dental treatments, such as tooth extraction, caries therapy, etc. ( 22 – 25 ), or on oral manifestations other than tooth anomalies, such as aberrant frenula or craniomandibular disorders ( 26 , 27 ).…”

Section: Resultsmentioning

confidence: 99%

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

Kapferer-Seebacher

Schnabl²,

Zschocke³

et al. 2020

Acta Derm Venerol

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Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and variable tissue fragility. However, there are limited published data on the dental manifestations of EDS. This review systematically assessed the spectrum of published dental anomalies in various types of EDS. Twentyfour individual case reports/series and 3 longer case-control studies, reporting on a total of 84 individuals with a clinical diagnosis of EDS, were included in the data analysis. The main dental features listed in classical EDS were pulp calcification and localized root hypoplasia. Common dental abnormalities observed in vascular EDS were pulp shape modifications (52.2%), exceeding root length (34.8%), and molar root fusion (47.8%). Dentinogenesis imperfecta is a consistent finding in osteogenesis imperfecta/EDS overlap syndrome. Data on dental manifestations in other types of EDS are both rare and generally inconclusive.

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Section: Resultsmentioning

confidence: 99%

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

Kapferer-Seebacher

Schnabl²,

Zschocke³

et al. 2020

Acta Derm Venerol

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“…4 Therefore, over the decades, various authors have proposed a variety of approaches for the management of these ruptures providing some practical advice in the application of sutures to minimize any loss of tissue during surgery and any post-operative leakage: Table 1 resumes the characteristics and management of corneal ruptures in patients with BCS. 4,[18][19][20][21][22][23] The surgical plan must foresee that from a simple repair of laceration one can be forced to turn to a corneal transplantation or that a primary PK can be a viable option to restore ocular integrity in fragile corneas following trauma when tissue loss precludes simple repair. [18][19][20]24 For these authors PK can be used as an integrity restoring procedure with the hope of repeating the procedure later in order to visually rehabilitate the patient.…”

Section: Surgical Managementmentioning

confidence: 99%

“…4,[18][19][20][21][22][23] The surgical plan must foresee that from a simple repair of laceration one can be forced to turn to a corneal transplantation or that a primary PK can be a viable option to restore ocular integrity in fragile corneas following trauma when tissue loss precludes simple repair. [18][19][20]24 For these authors PK can be used as an integrity restoring procedure with the hope of repeating the procedure later in order to visually rehabilitate the patient. 18 In this regard Izquierdo et al suggested, in the execution of the PK, to use 11.0 nylon sutures with long suture bites in order to reduce the risk of post operative leak.…”

Section: Surgical Managementmentioning

confidence: 99%

Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature

Incandela

D’Oria

Acquaviva

2023

European Journal of Ophthalmology

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It concerns three siblings (two 28 year old twin boys and a 25 year old woman) who presented a previous history of rupture of eyeball in one eye and very poor vision in the other. At the first ophthalmoscopic and instrumental evaluation, three patients presented with bluish sclera and keratoglobus in the intact eye. A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene that led to the diagnosis of Brittle Cornea Syndrome (BCS), a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. To preserve the only intact eye from possible breakage, the three siblings were trained in using protective measures (polycarbonate goggles etc.) to carry out close monitoring of symptoms and were asked to continue with follow-up visits for ocular and systemic diseases associated with BCS. Given the poor best corrected visual acuity achievable with glasses and contact lenses, penetrating keratoplasty was performed, achieving good visual acuity maintained in the 2-year follow-up in two of the three patients. Knowledge of this pathology and its clinical manifestations is essential for early diagnosis and correct management of this rare but very debilitating pathology. To our knowledge, this is the first case series of BCS reported in an Albanian population.

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“…Keratoglobus is a bilateral ectatic disorder of the cornea, principally characterised by a globular protrusion of the cornea associated with diffuse thinning from limbus to limbus [457]. Other ophthalmic features might include extreme corneal thinning, irregular corneal astigmatism, high myopia, blue sclera, and retinal detachment [458]. There are no specific studies or literature on contact lens fitting in cases of keratoglobus.…”

Section: Keratoglobus/brittle Cornea Syndromementioning

confidence: 99%

BCLA CLEAR – Medical use of contact lenses

Jacobs

Carrasquillo²,

Cottrell

et al. 2021

Contact Lens and Anterior Eye

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The medical use of contact lenses is a solution for many complex ocular conditions, including high refractive error, irregular astigmatism, primary and secondary corneal ectasia, disfiguring disease, and ocular surface disease. The development of highly oxygen permeable soft and rigid materials has extended the suitability of contact lenses for such applications. There is consistent evidence that bandage soft contact lenses, particularly silicone hydrogel lenses, improve epithelial healing and reduce pain in persistent epithelial defects, after trauma or surgery, and in corneal dystrophies. Drug delivery applications of contact lens hold promise for improving topical therapy. Modern scleral lens practice has achieved great success for both visual rehabilitation and therapeutic applications, including those requiring retention of a tear reservoir or protection from an adverse environment. This report offers a practical and relevant summary of the current evidence for the medical use of contact lenses for all eye care professionals including optometrists, ophthalmologists, opticians, and orthoptists. Topics covered include indications for use in both acute and chronic conditions, lens selection, patient selection, wear and care regimens, and recommended aftercare schedules. Prevention, presentation, and management of complications of medical use are reviewed.

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Unusual case of globe perforation: the brittle cornea without systemic manifestations

Cited by 6 publications

References 16 publications

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature

BCLA CLEAR – Medical use of contact lenses

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