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1.
Artículo en Inglés | MEDLINE | ID: mdl-38687332

RESUMEN

A 26-year-old male with a history of orbital lymphangioma and compressive optic neuropathy presented with recurrent proptosis in the OS. After examination and imaging, a left orbital lymphatic malformation and a new subcutaneous temporal-parietal vasculo-lymphatic malformation were diagnosed. The patient underwent a bleomycin injection for the orbital malformation and an excisional biopsy for the temporal lesion, leading to symptom resolution. Recurrence of lymphatic malformations and hemorrhage typically occurs at the same site, here we report a patient with the appearance of a new site lesion with orbital recurrence.

2.
Orbit ; 43(1): 64-68, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37155277

RESUMEN

PURPOSE: To report a case series of seven patients with late presentation of orbital/subperiosteal abscess following oral treatment of orbital cellulitis. METHODS: A retrospective case series of all patients presented with orbital abscess following oral treatment of orbital cellulitis from two tertiary-care eye centres in Riyadh, Saudi Arabia, was conducted. Demographic profiles, risk factors, initial clinical presentation, management regimens, and final outcome were analysed. RESULTS: Patients presented mainly with proptosis and limitation of extraocular motility without external ophthalmic inflammatory signs. Most patients needed surgical evacuation despite the appropriate initiation of intravenous antibiotics following presentation to our hospitals. CONCLUSION: Treating orbital cellulitis with oral antibiotics may lead to delayed presentation of orbital abscess without external ophthalmic inflammatory signs.


Asunto(s)
Exoftalmia , Celulitis Orbitaria , Humanos , Celulitis Orbitaria/diagnóstico , Antibacterianos/uso terapéutico , Absceso/diagnóstico por imagen , Absceso/tratamiento farmacológico , Estudios Retrospectivos , Celulitis (Flemón)/tratamiento farmacológico , Celulitis (Flemón)/etiología
3.
Orbit ; 41(2): 211-215, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33430670

RESUMEN

PURPOSE: To report long-term surgical outcomes of a series of MGJWS patients with moderate ptosis who underwent levator resection. MATERIALS AND METHODS: A retrospective review of medical records of 10 MGJWS patients with moderate ptosis who underwent levator resection was performed in two major eye centers in Riyadh, Saudi Arabia from January 1987 to December 2019. Clinical features, pre-operative and post-operative data of the 10 patients were recorded. OUTCOME MEASURES: Long-term upper eyelid position. RESULTS: The mean patient age at presentation was 5.4 years. Seven patients were female and three were male. All patients had moderate ptosis with marginal reflex distance ranged from 1 to 2 mm. The mean age at surgery was 9.5 years. After initial good ptosis correction for all patients, seven of them had a recurrence of ptosis several months after levator resection. CONCLUSIONS: Levator resection in MGJWS patients with moderate ptosis and good levator function is associated with a high rate of ptosis recurrence and less predictable surgical results.


Asunto(s)
Blefaroptosis , Enfermedades del Sistema Nervioso , Blefaroptosis/cirugía , Femenino , Cardiopatías Congénitas , Humanos , Anomalías Maxilomandibulares , Masculino , Enfermedades del Sistema Nervioso/cirugía , Músculos Oculomotores/cirugía , Reflejo Anormal , Estudios Retrospectivos , Resultado del Tratamiento
4.
Orbit ; 40(1): 18-23, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31994430

RESUMEN

Purpose: To study acute dacryocystitis in a pediatric age group, focusing on patients' demographic profiles, clinical presentation, and management outcome. Methods: A retrospective case series of all acute dacryocystitis in pediatric patients (0-17 years) from two tertiary-care eye centres in Riyadh, Saudi Arabia was conducted. Demographic profile, risk factors, initial clinical presentation, management regimens, and final outcome were analysed. Results: A total of 51 patients were included in the study. The mean age of presentation was 3.9 ± 4 years (1 month-13 years). Thirty-eight patients (74.5%) reported symptoms of congenital nasolacrimal duct obstruction (NLDO) prior to presentation, four patients (7.8%) had congenital dacryocystocele, two (3.9%) had a history of traumatic NLDO, and ten (19.6%) had an attack of acute dacryocystitis in the absence of NLDO or any other known risk factors. Four patients (7.8%) progressed to orbital cellulitis while another three (5.8%) had lacrimal sac fistula secondary to acute dacryocystitis. Systemic antibiotics were the initial management in all 51 patients. Twenty-five (49%) underwent probing after the resolution of the acute attack while 12 (23.5%) patients underwent dacryocystorhinostomy (DCR). Conclusions: Early recognition and urgent management for acute dacryocystitis are required to prevent further potential complications and achieve excellent outcomes. Congenital NLDO is the main risk factor for the development of acute dacryocystitis in the pediatric age group. In a small set of patients, acute dacryocystitis can develop despite the presence of a patent lacrimal drainage system on clinical evaluation with lack of tearing and discharge before and after the attack of acute dacryocystitis.


Asunto(s)
Dacriocistitis , Dacriocistorrinostomía , Obstrucción del Conducto Lagrimal , Conducto Nasolagrimal , Niño , Preescolar , Dacriocistitis/epidemiología , Dacriocistitis/cirugía , Humanos , Obstrucción del Conducto Lagrimal/diagnóstico , Obstrucción del Conducto Lagrimal/terapia , Conducto Nasolagrimal/diagnóstico por imagen , Conducto Nasolagrimal/cirugía , Estudios Retrospectivos
5.
BMC Ophthalmol ; 20(1): 413, 2020 Oct 16.
Artículo en Inglés | MEDLINE | ID: mdl-33066757

RESUMEN

BACKGROUND: Whipple's disease (WD) is a rare, chronic, infection caused by gram-positive filamentous aerobic actinobacterium Tropheryma whipplei occurs classically in the gastrointestinal tract and shows histopathologically foamy macrophages with typical numerous PAS-positive, non-acid fast particles. Ocular WD in the form of uveitis may occur in the absence of systemic disease but has not been reported to present with scleral manifestation. We describe for the first time to the best of our knowledge 2 cases of scleral nodules with typical histopathological morphology of WD and without systemic involvement. CASE PRESENTATION: The first was a 53-year old diabetic male farmer who presented with 2 nontender right eye scleral nodules for 3 months, had a negative systemic workup, and surgical excision showed Periodic acid Schiff (PAS)-positive eosinophilic structures inside macrophages. Grocott's methenamine silver (GMS) stain and acid-fast bacilli (AFB) stain of the tissue itself were negative. The second case was a 60-year old male who presented with an asymptomatic superior scleral nodule for 4 months, which showed similar appearance and negative GMS and AFB stains. CONCLUSION: WD should be included in the differential diagnosis of scleral nodules even in the absence of systemic symptoms. Surgical excision without systemic treatment resulted in successful outcome without recurrence.


Asunto(s)
Uveítis , Enfermedad de Whipple , Diagnóstico Diferencial , Humanos , Masculino , Persona de Mediana Edad , Tropheryma , Uveítis/diagnóstico , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico
6.
Ophthalmic Plast Reconstr Surg ; 36(6): 566-568, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32810032

RESUMEN

PURPOSE: To describe a novel observation of ipsilateral eyelid myokymia in the context of Marcus Gunn jaw-winking synkinesis (MGJWS). METHODS: A retrospective case series of 5 patients observed to have myokymia in the context of MGJWS in 2 tertiary hospitals in Riyadh, Saudi Arabia was conducted. Demographic profile including age and gender, and clinical features were analyzed. RESULTS: Five patients (3 males and 2 females) with MGJWS were noted to demonstrate the phenomenon of ipsilateral eyelid myokymia. All but 1 had right-sided MGJWS. The myokymia was seen as upper eyelid twitching in a vertical fashion along the levator palpebrae superioris muscle field of action. All subjects also had ipsilateral Monocular elevation deficiency. CONCLUSION: Ipsilateral upper eyelid myokymia is a potential feature of MGJWS. Monocular elevation seems to be a constant feature among MGJWS patients with levator muscle myokymia.Marcus Gunn jaw-winking synkinesis (MGJWS) is not well understood. Ipsilateral eyelid myokymia is a potential feature of MGJWS. This finding suggests that peripheral dysinnervation is likely to be a part of MGJWS.Supplemental Digital Content is available in the text.


Marcus Gunn jaw-winking synkinesis (MGJWS) is not well understood. Ipsilateral eyelid myokymia is a potential feature of MGJWS. This finding suggests that peripheral dysinnervation is likely to be a part of MGJWS. Supplemental Digital Content is available in the text.


Asunto(s)
Blefaroptosis , Miocimia , Sincinesia , Párpados , Femenino , Cardiopatías Congénitas , Humanos , Anomalías Maxilomandibulares , Masculino , Enfermedades del Sistema Nervioso , Músculos Oculomotores , Reflejo Anormal , Estudios Retrospectivos , Sincinesia/diagnóstico
7.
Int Ophthalmol ; 40(8): 2041-2045, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32367161

RESUMEN

PURPOSE: To present the differentiating clinical findings between intratarsal keratinous cyst (IKC) and chalazion. METHOD: A retrospective review of medical records of all patients who presented between 2010 and 2018 at King Abdulaziz University Hospital with proven histopathological diagnosis of IKC was done. Complete ophthalmologic evaluation at presentation, surgical procedures performed, complications, histopathological findings, response to treatment and follow-up were recorded. RESULTS: Twelve patients were found to have IKC. All patients presented with an eyelid mass with no signs of local inflammation. All lesions were fixed to the tarsus with freely mobile overlying skin, which was found to be slightly pale compared to the surrounding skin in six patients. On palpation, IKC had well-defined boarders. Isolation with clear surgical plane for cyst excision was achieved in nine patients as they were superficially involving the tarsus. When IKC involved the deep part of the tarsus, bluish/ whitish nodules were seen upon eyelid eversion. Six patients were misdiagnosed and surgically treated as a chalazion elsewhere prior to presentation to us with recurrence. CONCLUSION: Differentiating IKC from chalazion can be challenging. Careful clinical evaluation helps reaching the right diagnosis and providing the correct treatment, which involves complete excision of IKC to prevent recurrence.


Asunto(s)
Chalazión , Enfermedades de los Párpados , Chalazión/diagnóstico , Chalazión/cirugía , Enfermedades de los Párpados/diagnóstico , Enfermedades de los Párpados/cirugía , Humanos , Queratinas , Recurrencia Local de Neoplasia , Estudios Retrospectivos
8.
Ophthalmic Plast Reconstr Surg ; 35(5): 451-455, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30844917

RESUMEN

PURPOSE: To evaluate the use of bicanalicular silicone intubation for the management of punctal stenosis and obstruction in patients with allergic conjunctivitis. METHODS: A retrospective interventional case series of patients with acquired epiphora due to stenotic or obstructed puncta as a result of allergic conjunctivitis was performed. Punctal dilation and bicanalicular silicone intubation were performed in all patients. Munk Scale for grading of epiphora along with grading of fluorescein dye disappearance test was used to evaluate the functional improvement. Grading of punctal stenosis using Kashkouli's grading system was applied to evaluate the anatomical improvement. Patients having canalicular or nasolacrimal duct obstruction, punctal stenosis, and obstruction due to other causes were excluded. RESULTS: Fifty-one patients met the inclusion criteria with male-female ratio of 1:1.55 and an average age of 46 years at presentation. High patient tolerances without complications with the use of tubes were reported. Significant improvement 6 months after tube removal in comparison to preoperative period was found with anatomical and functional success rate of 91.83% and 87.75%, respectively. Two patients had a recurrence of the punctal stenosis many months after stent removal because of the early tube prolapse and exacerbation of the allergic conjunctivitis. CONCLUSIONS: Bicanalicular silicone intubation seems to be a well-tolerated and effective tool in the management of acquired punctal stenosis or obstruction secondary to allergic conjunctivitis. Bicanalicular silicone intubation appears to be a good option as patients with allergic conjunctivitis typically present with bilateral involvement of both puncti.


Asunto(s)
Conjuntivitis Alérgica/complicaciones , Dacriocistorrinostomía/métodos , Intubación/instrumentación , Obstrucción del Conducto Lagrimal/terapia , Conducto Nasolagrimal/cirugía , Stents , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
9.
Curr Opin Ophthalmol ; 29(5): 428-433, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29994851

RESUMEN

PURPOSE OF REVIEW: In 1980, botulinum toxin type A (BTX-A) was introduced for the treatment of strabismus and benign essential blepharospasm. Since then, a number of additional indications have been introduced, which continue to expand, providing less invasive solutions in managing different ophthalmic conditions. RECENT FINDINGS: Successful trials of BTX-A injection into the lacrimal gland have been reported for the treatment of epiphora caused by primary lacrimal gland hyperlacrimation, functional tearing, gustatory tearing, and lacrimal outflow obstruction. This is achieved through blockage of the cholinergic receptors by BTX-A at the glandular level. Interestingly, BTX-A has also been found to be useful in treating patients with dry eyes by compromising the tear drainage from the eye through injection of BTX-A in the medial part of the lower eyelid. BTX-A may help provide effective relief for patients who have two different ophthalmic comorbidities such as benign essential blepharospasm and dry eye. SUMMARY: Better understanding of the mechanism of BTX-A action in the treatment of the growing applications in ophthalmology helps provide relatively noninvasive solutions for patients. Full awareness of possible side effects of BTX-A and the optimal way to manage them is vital for the success of this treatment option.


Asunto(s)
Blefaroespasmo/tratamiento farmacológico , Toxinas Botulínicas Tipo A/administración & dosificación , Aparato Lagrimal/metabolismo , Lágrimas/metabolismo , Blefaroespasmo/metabolismo , Humanos , Inyecciones Intramusculares , Aparato Lagrimal/efectos de los fármacos , Fármacos Neuromusculares/administración & dosificación , Lágrimas/efectos de los fármacos
10.
Ophthalmic Plast Reconstr Surg ; 34(5): 463-466, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29384825

RESUMEN

PURPOSES: To study the ophthalmic manifestations of patients with allergic fungal sinusitis (AFS) and evaluate the importance of early diagnosis and management in preventing the possible future complications of AFS. METHODS: Retrospective chart review of 100 patients with the diagnosis of AFS from a single institution was performed. Age, gender, clinical presentation including ophthalmic and radiological findings, immune status, patterns of sinus involvement, medical and surgical intervention needed, laboratory results, and the course of the disease were evaluated. RESULTS: The mean age at presentation was 19.8 years (range, 10-42 years) with no clear gender predominance (52% of patients were female).The most common sinuses involved were ethmoid and maxillary sinuses. All patients underwent functional endoscopic sinus surgery and received systemic and topical steroids. There were no intervention-related complications. Thirty-four of 100 patients had ophthalmic consequences of AFS. The most common ophthalmic presentation was proptosis (n = 21, 61.7%), followed by epiphora (n = 5, 14.7%), visual loss (n = 4, 11.7%), diplopia (n = 3, 8.8%), and dystopia (n = 1, 2.9%) in addition to 1 patient having ptosis beside proptosis. CT scans of these 34 patients showed that 82.3% had nonhomogenous opacification of sinuses, 52% had erosion of lamina papyracea, 17.6% had intraorbital extension, and 8.8% had intracranial extension. CONCLUSIONS: Ophthalmologists may be the first who encounter these patients which necessitates familiarity with AFS presentations and complications. In cases of sudden visual loss, early intervention may prevent permanent vision loss. Functional endoscopic sinus surgery and postoperative systemic and topical steroids resulted in dramatic improvement of ophthalmic symptoms and signs.


Asunto(s)
Exoftalmia/etiología , Micosis/complicaciones , Sinusitis/complicaciones , Trastornos de la Visión/etiología , Adolescente , Adulto , Antibacterianos/uso terapéutico , Antifúngicos/uso terapéutico , Niño , Diagnóstico Precoz , Femenino , Humanos , Masculino , Micosis/terapia , Senos Paranasales/cirugía , Estudios Retrospectivos , Sinusitis/microbiología , Sinusitis/terapia , Esteroides/uso terapéutico , Adulto Joven
11.
Ophthalmic Plast Reconstr Surg ; 33(4): 264-267, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27429223

RESUMEN

PURPOSE: To evaluate the clinical outcomes of ruptured dermoid cysts. METHODS: A multicenter, retrospective study of all cases of periorbital and orbital dermoid cysts with histopathological evidence of rupture, including those with clinical rupture, was performed over a 10-year period. Demographics and clinical outcomes of ruptured dermoid cysts were recorded. Persistent inflammation was defined as the presence of edema, erythema, and discomfort for at least 28 days. RESULTS: Eighty-six cases of dermoid cysts were identified. Median age was 5.5 (range, 1-63) years. Location of cyst was either periorbital (n = 60, 70%) or orbital (n = 26, 30%). There were 29 cases with clinically apparent rupture: 27 surgically ruptured (93%) and 2 spontaneous rupture (7%). Persistent inflammation was found in 1 spontaneous cyst rupture case (50%) and 1 surgically ruptured cyst (3.7%). Older age (p = 0.01) and bony attachment (p = 0.001) were significant factors for cyst rupture, while there was no influence from cyst location (p = 0.14). CONCLUSIONS: Persistent inflammation is uncommon after surgical rupture of dermoid cysts, but likely after spontaneous rupture. Older age and bony attachment are risk factors for cyst rupture.


Asunto(s)
Quiste Dermoide/diagnóstico , Procedimientos Quirúrgicos Oftalmológicos/métodos , Neoplasias Orbitales/diagnóstico , Adolescente , Adulto , Biopsia , Niño , Preescolar , Quiste Dermoide/cirugía , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Persona de Mediana Edad , Neoplasias Orbitales/cirugía , Estudios Retrospectivos , Rotura Espontánea , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Adulto Joven
12.
Ophthalmic Plast Reconstr Surg ; 30(4): 337-41, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24814275

RESUMEN

PURPOSE: To study microscopic and ultrastructural changes of Müller's muscle in patients with isolated congenital ptosis. METHODS: In this prospective, observational case-control study, Müller's muscle specimens were collected during ptosis surgical correction for 18 consecutive patients. Each specimen was divided into 2 parts. One part was embedded in formalin for light microscopy, and the other one was fixed in 3% glutaraldehyde for electron microscopy. A neuropathologist, serving as a masked evaluator, blindly reviewed all the different features for every case and counted the number of myocytes showing distinct myofilaments in the whole grid for every case. Statistical analysis using compare means and correlation tests was conducted to investigate potential associations and/or differences within and across groups. RESULTS: Twelve Müller's muscle specimens from patients with simple congenital ptosis of various severities and 6 specimens from patients with aponeurotic ptosis (controls) were collected and studied. Under light microscopy, congenital ptosis slides showed a small number of dispersed myocytes in a fibrotic background, whereas acquired ptosis slides showed a greater number of well-defined myocytes. Under electron microscopy, all congenital ptosis specimens had only a very small number of myocytes with clear, distinct myofilaments. Most myocytes in the aponeurotic ptosis group showed clear, distinct myofilaments, indicating a well-preserved muscle. No relationship existed between the number of clear, distinct myofilaments observed in the congenital ptosis group by transmission electron microscopy and patient age or ptosis severity. CONCLUSION: Substantial Müller's muscle atrophy was observed in patients with different severities of isolated congenital ptosis.


Asunto(s)
Blefaroptosis/patología , Músculos Oculomotores/ultraestructura , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Blefaroplastia , Blefaroptosis/congénito , Blefaroptosis/cirugía , Estudios de Casos y Controles , Niño , Preescolar , Párpados/ultraestructura , Femenino , Humanos , Masculino , Microscopía Electrónica de Transmisión , Persona de Mediana Edad , Fibras Musculares Esqueléticas/ultraestructura , Miofibrillas/ultraestructura , Estudios Prospectivos
13.
Ophthalmic Plast Reconstr Surg ; 29(3): 164-6, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23503057

RESUMEN

PURPOSE: To evaluate the function of the canaliculus with fistula after canalicular laceration repair. METHODS: Patients with monocanalicular fistula following canalicular laceration repair were evaluated with dye disappearance test (DDT). Temporary collagen plugs were used to occlude the uninvolved canaliculus in the ipsilateral eye and the corresponding canaliculus in the contralateral eye. After 24 hours of placement of the temporary plugs, the same evaluation was repeated. RESULTS: Ten patients with unilateral monocanalicular fistulas were evaluated. None of the patients had epiphora before and after placement of temporary plugs and DDT, and tear meniscus continued to be normal both in the affected and the unaffected eyes after temporary plug placement. CONCLUSIONS: In this series, the presence of canalicular fistula at the site of repair did not affect tear drainage.


Asunto(s)
Lesiones Oculares/cirugía , Párpados/lesiones , Fístula/fisiopatología , Laceraciones/cirugía , Enfermedades del Aparato Lagrimal/fisiopatología , Aparato Lagrimal/lesiones , Lágrimas/fisiología , Adolescente , Adulto , Niño , Párpados/fisiopatología , Femenino , Fístula/etiología , Humanos , Aparato Lagrimal/fisiopatología , Enfermedades del Aparato Lagrimal/etiología , Masculino , Stents , Técnicas de Sutura
14.
Saudi J Ophthalmol ; 37(2): 94-99, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37492214

RESUMEN

PURPOSE: Epicanthus is a term that refers to the semilunar eyelid skin fold over the medial aspect covering the medial canthal angle. Epicanthus tarsalis is the most common type and is most evident in the Asian population with a prevalence of 40% as opposed to 2%-5% in the non-Asian population. Epicanthoplasty has not been studied in patients of a population of heavier skin pigmentation. METHODS: A retrospective review of patients that underwent Park's modified Z-epicanthoplasty from January 2018 to August 2020. They were categorized based on their Fitzpatrick skin type. Their preoperative and postoperative pictures were analyzed for epicanthal fold correction with focus on scar visibility, pigmentation, and elevation. The patients were contacted over the phone for a questionnaire about their subjective scar assessment and satisfaction rate. RESULTS: A total of 35 patients with mild epicanthus tarsalis were included in this study. Twenty-two patients had Fitzpatrick skin type 3, seven patients had type 4, and six had type 5. Normal postoperative scar pigmentation was reported 37.1% (n = 13) of patients. Scar hypopigmentation was reported in 28.6% (n = 10) and scar hyperpigmentation was reported in 34.3% (n = 12). The final cosmetic satisfaction rate score was a median of 9/10 on the 1-10 scale with 40% recording 10/10 satisfaction. On the scar visibility scale, the median was 3/10. About 82.9% (n = 29) had no scar elevation or hypertrophy. Only one patient had scar hypertrophy and elevation and three patients had a vertical depression scar. No clinical or statistical significance was found when correlating scar visibility and pigmentation with Fitzpatrick skin type. CONCLUSION: Epicanthoplasty is a commonly performed surgery, especially in China and South Korea. In our population, Z-epicanthoplasty has proven to be effective in epicanthus tarsalis with high cosmetic satisfaction rate, low scar visibility, and acceptable scar pigmentation.

15.
Can J Ophthalmol ; 57(6): 388-393, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-34324876

RESUMEN

OBJECTIVE: The study aims to describe the clinical and histopathologic features of different types of dacryops and their clinical diagnostic challenges. METHODS: This is a retrospective cohort study of all surgically excised cases of dacryops in 2 tertiary eye hospitals in Riyadh, Saudi Arabia. RESULTS: The study included 58 dacryops specimens from 55 patients with an average age of 41.2 years (range, 4-78 years). The most common location was the upper lid (60.3%), whereas the least expected location was the caruncle (6.9%). The most common site of dacryops occurrence was in the accessory lacrimal gland (55.2%), the main lacrimal gland (32.8%), and then ectopic dacryops (12%). All patients presented with lid swelling alone except for 3 patients who experienced secondary mechanical ptosis. On physical examination, conjunctival scarring existed in 4 patients (6.9%). Preoperative diagnosis of dacryops was accurate in 44.8% of the cases. Dacryops of the main lacrimal gland was accurately diagnosed clinically in all cases compared with other locations, which was statistically significant (p < 0.001). The causes of inaccurate clinical diagnoses were hidrocystoma (26.9%), inclusion cyst (11.5%), and dermoid cyst (7.7%), whereas the remaining cases were diagnosed as cysts without a specific subtype (53.9%). Recurrence of the lesion was observed in 2 cases (3.5%). No clinical or histopathologic factors were associated with a risk of recurrence. CONCLUSION: Dacryops can represent a diagnostic challenge to ophthalmologists. Familiarity with clinical presentations and findings is required to diagnose dacryops outside the main lacrimal gland.


Asunto(s)
Enfermedades del Aparato Lagrimal , Aparato Lagrimal , Adulto , Humanos , Enfermedades de la Conjuntiva/etiología , Quistes/diagnóstico , Quistes/etiología , Quistes/cirugía , Aparato Lagrimal/cirugía , Aparato Lagrimal/patología , Enfermedades del Aparato Lagrimal/diagnóstico , Enfermedades del Aparato Lagrimal/cirugía , Enfermedades del Aparato Lagrimal/patología , Estudios Retrospectivos , Preescolar , Niño , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano , Cicatriz/etiología
16.
BMC Med Genet ; 12: 31, 2011 Feb 24.
Artículo en Inglés | MEDLINE | ID: mdl-21349189

RESUMEN

BACKGROUND: Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families. METHODS: Clinical, neurologic, and neuro-ophthalmologic examinations; skin histopathology; brain CT and MRI; and sequencing of the fullECM1 gene. RESULTS: All seven affected individuals had skin scarring and hoarseness from early childhood. The two children in Family 1 had worse skin involvement and worse hoarseness than affected children of Families 2 and 3. Both children in Family 1 were modestly mentally retarded, and one had typical calcifications of the amygdalae on CT scan. Affected individuals in Families 2 and 3 had no grossneurologic, neurodevelopmental, or neuroimaging abnormalities. Skin histopathology was compatible with LP in all three families. Sequencing the full coding region of ECM1 gene revealed two novel mutationsin Family 1 (c.1300-1301delAA) and Family 2 (p.Cys269Tyr) and in Family 3 a previously described 1163 bp deletion starting 34 bp into intron 8. CONCLUSIONS: These individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously thought. The cause of neurologic abnormalities was not clear from either neuroimaging or from what is known about ECM1 function. The severity of dermatologic abnormalities and hoarseness generally correlated with neurologic abnormalities, with Family 1 being somewhat more affected in all spheres than the other two families. Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity.


Asunto(s)
Proteínas de la Matriz Extracelular/genética , Proteinosis Lipoidea de Urbach y Wiethe/genética , Mutación , Adolescente , Sustitución de Aminoácidos , Secuencia de Bases , Encéfalo/patología , Niño , Preescolar , Consanguinidad , Análisis Mutacional de ADN , Femenino , Humanos , Discapacidad Intelectual/genética , Proteinosis Lipoidea de Urbach y Wiethe/patología , Proteinosis Lipoidea de Urbach y Wiethe/fisiopatología , Proteinosis Lipoidea de Urbach y Wiethe/psicología , Masculino , Mutación Missense , Linaje , Arabia Saudita , Eliminación de Secuencia , Adulto Joven
17.
Ophthalmology ; 118(2): 412-4, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20801522

RESUMEN

PURPOSE: To evaluate the effect of optic nerve sheath fenestration (ONSF) on papilledema grade in the operated eyes and the contralateral nonoperated fellow eyes in patients with idiopathic intracranial hypertension (IIH). DESIGN: Retrospective review. PARTICIPANTS: A total of 78 patients underwent ONSF, and 20 patients served as controls. METHODS: Charts of patients with IIH who had ONSF at the University of Iowa Hospital and Clinics were reviewed for age, gender, body mass index, and clinical findings. Optic disc photographs were graded by a masked observer using the Frisén papilledema grading scale at preoperative baseline and postoperatively at 2 weeks, 3 months, 6 months, and 12 months follow-up. Wilcoxon signed-rank test was used to examine the change in papilledema grade in both operated and nonoperated eyes at each time point. MAIN OUTCOME MEASURES: Grade of papilledema. RESULTS: Sixty-two patients (52 women and 10 men) with a mean age of 32 years (range, 13-57 years) underwent unilateral ONSF. The median grade of papilledema for operated and nonoperated eyes was 3 and 2, respectively, at preoperative baseline. Postoperatively the grade was 2 in each eye at 2 weeks (P<0.0001 and <0.0002 for operated and nonoperated eyes, respectively), 1 in each eye at 3 months (P<0.0001 for both operated and nonoperated eyes), 1 in each eye at 6 months (P<0.0001 for both operated and nonoperated eyes), and 0.5 and 1 for operated and nonoperated eyes, respectively, at 12 months follow-up (P<0.0001 for both operated and nonoperated eyes). There was no significant difference in grade of disc edema or reduction of disc edema on the basis of age, gender, or body mass index. CONCLUSIONS: Unilateral ONSF significantly decreases the grade of papilledema in both ipsilateral (operated) and contralateral (unoperated) eyes. The reduction of the papilledema and the stability of visual field in the contralateral (nonoperated) eyes suggest that bilateral ONSF may not always be necessary in patients with bilateral visual loss and papilledema due to IIH.


Asunto(s)
Procedimientos Quirúrgicos Oftalmológicos , Nervio Óptico/cirugía , Papiledema/fisiopatología , Seudotumor Cerebral/cirugía , Adolescente , Adulto , Descompresión Quirúrgica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Seudotumor Cerebral/fisiopatología , Estudios Retrospectivos , Adulto Joven
18.
Ophthalmic Plast Reconstr Surg ; 27(5): e136-8, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21326130

RESUMEN

Infarction of the orbital bone in patients with sickle cell disease is very rare. The authors report a young boy who presented twice with marked acute proptosis and eyelid swelling of the right eye resulting from infarction in the greater wing of the sphenoid bone accompanied by an orbital subperiosteal collection. The time interval between the 2 attacks was 3 years.


Asunto(s)
Anemia de Células Falciformes/complicaciones , Enfermedades Óseas/diagnóstico , Infarto/etiología , Periostio/patología , Hueso Esfenoides/irrigación sanguínea , Niño , Exoftalmia/etiología , Dolor Ocular/etiología , Humanos , Infarto/diagnóstico , Masculino
19.
Ophthalmic Plast Reconstr Surg ; 27(3): 158-63, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-20940662

RESUMEN

PURPOSE: To evaluate the changes in eye position and orbital content expansion following medial and lateral orbital wall decompression for thyroid-associated orbitopathy. METHODS: The authors used a computer software program (syngo InSpace4D, syngo 3D, syngo fusion, and syngo Volume Evaluation; Siemens AG, Forchheim, Germany) to measure the orbital expansion gained by medial and lateral orbital wall decompression and the change in eye position between the digitized preoperative and postoperative orbital CT scans. RESULTS: Twenty patients (16 women and 4 men) with a mean age of 45 years (range, 18-64 years) were enrolled in this study. Of the 20 patients who underwent balanced decompression for thyroid-associated orbitopathy, 18 patients had bilateral medial and lateral orbital wall decompression, and 2 patients had unilateral medial and lateral decompression. The average orbital volume expansion was 3.21 mL (13.51%) of the preoperative orbital volume (2.1 mL [8.98%] gained by medial wall decompression and 1.03 mL [4.53%] by lateral wall decompression). Postoperatively, proptosis decreased by 2.53 mm on average (p < 0.0001). The eyes became closer to each other postoperatively in the horizontal plane by 2.6 mm on average (p < 0.0001). No change in the vertical eye position was detected postoperatively. CONCLUSIONS: A significant nasal shift in the eye position was noticed following balanced orbital decompression. Computerized assessment of preoperative and postoperative digitized orbital CT scans helps evaluate the orbital changes in response to different orbital decompression techniques and improve the surgical outcomes in thyroid-associated orbitopathy.


Asunto(s)
Descompresión Quirúrgica/métodos , Ojo/patología , Oftalmopatía de Graves/cirugía , Músculos Oculomotores/cirugía , Órbita/cirugía , Adolescente , Adulto , Femenino , Oftalmopatía de Graves/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Músculos Oculomotores/diagnóstico por imagen , Órbita/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Adulto Joven
20.
Ophthalmic Plast Reconstr Surg ; 27(5): e121-3, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21178797

RESUMEN

The purpose of this case report is to report an orbital roof encephalocele mimicking a destructive orbital neoplasm. Orbital roof encephalocele is uncommon but can mimic neoplasm. One potential mechanism for the orbital roof destruction is a post-traumatic "growing orbital roof fracture." The growing fracture has been reported mostly in children but can occur in adults. Alternative potential etiologies for the encephalocele are discussed, including Gorham syndrome. Orbital roof encephalocele is uncommon in adults, and the findings can superficially resemble an orbital neoplasm. Radiographic and clinical features that might suggest the correct diagnosis include a prior history of trauma, overlying frontal lobe encephalomalacia without significant mass effect or edema, and an orbital roof defect. The "growing fracture" mechanism may be a potential explanation for the orbital roof destruction in some cases.


Asunto(s)
Encefalocele/diagnóstico , Enfermedades Orbitales/diagnóstico , Diagnóstico Diferencial , Humanos , Masculino , Persona de Mediana Edad , Fracturas Orbitales/etiología , Fracturas Orbitales/cirugía , Neoplasias Orbitales/diagnóstico , Tomografía Computarizada por Rayos X
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