Rhegmatogenous Retinal Detachment in Pierre Robin Anomaly—A Suspicion for Stickler Syndrome: Case Report
نویسندگان
چکیده
Stickler syndrome (SS) is an autosomal dominant inherited genetic disorder that presents with hearing loss, a cleft palate, epiphyseal dysplasia, and degeneration, similar to arthritis well known be associated rhegmato-genous retinal detachments. A particular group of physical features called Pierre Robin sequence also common in people stickler syndrome. includes glossoptosis, micrognathia. We describe case report family diagnosed presenting share some universal management steps for rhegmatogenous detachment Genetic testing important support the diagnosis conduct screenings members.
منابع مشابه
Stickler syndrome. Epidemiology of retinal detachment.
OBJECTIVE A review was performed on all patients with Stickler syndrome that had been treated in our Centre since it was diagnosed, in order to evaluate the risk of suffering a retinal detachment (RD). METHODS A total of 14 patients, diagnosed by clinical criteria, were included. The following variables were evaluated: age, gender, ocular background, follow-up, initial and final visual acuity...
متن کاملPierre Robin sequence: a "Stickler" situation?
HISTORY OF PRESENT ILLNESS The patient was born to a healthy gravida 2, para 2, 27-year-old woman. There was no intrauterine exposure to medications, alcohol, recreational drugs, or tobacco. The infant was delivered vaginally at 38 weeks’ gestation in a local hospital. Her statistics at birth were as follows: weight, 3.58 kg (25th to 50th percentile); length, 51 cm (50th percentile); head circu...
متن کاملStickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report.
The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, characterized by the presence of the combination of mandibular hypoplasia (micrognathia or small jaw), glossoptosis (retrusion of the tongue into the pharyngeal airway) and, often, a posterior cleft of the secondary palate. It may be an isolated occurrence or part of a more complex s...
متن کاملRhegmatogenous retinal detachment.
Patients often present after trauma with symptoms of vision loss or loss of a field of vision from a rhegmatogenous retinal detachment (RRD). This study aims to equip the health care provider with knowledge on the recognition, evaluation, and management of RRD to improve communication between the patient and consultant. The article highlights the symptoms, signs (including ophthalmoscopic findi...
متن کاملRetinal detachment in identical twins with Stickler syndrome type 1.
BACKGROUND The high incidence of retinal detachment and its poor surgical prognosis in patients with Stickler syndrome are well known. However, the vitreoretinal relation to retinal detachment in this syndrome is uncertain. METHODS Vitreoretinal examination with a binocular indirect ophthalmoscope and a Goldmann three mirror contact lens was performed on identical twin boys with Stickler synd...
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ژورنال
عنوان ژورنال: Open Journal of Ophthalmology
سال: 2022
ISSN: ['2165-7408', '2165-7416']
DOI: https://doi.org/10.4236/ojoph.2022.121006