1/9. Ocular manifestations of Donohue's syndrome.INTRODUCTION: Donohue's syndrome, also known as Leprechaunism, is a rare autosomal recessive disease that manifests at birth with symptoms of endocrine dysfunction. Metabolic characteristics of the disease include postprandial hyperglycemia, fasting hypoglycemia, insulin resistance, hyperinsulinemia, and failure to thrive. The physical features most often associated with this condition include hypertrichosis, pachyderma, acanthosis nigricans, prominent genitalia, and elfin-like facial characteristics of prominent eyes, wide nostrils, thick lips, and large, low-set ears. Not only is this syndrome rare, but it often results in infant and early childhood mortality. The literature regarding ocular manifestations is limited. CASE REPORT: We present a case of a 29-year-old male with Donohue's syndrome and significant ocular findings including a subluxated mature cataract, retinal detachment, high myopia, and optic atrophy. DISCUSSION: These ocular sequelae are discussed with regard to the noted endocrine dysfunction and its effects on tissue development and growth.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/9. Ocular sarcoidosis presenting as a solitary choroidal mass.Ocular sarcoidosis presenting as a solitary choroidal mass without other signs of intraocular inflammation is a rare manifestation of systemic sarcoidosis. The authors describe a 26-year-old man who presented with a solitary choroidal tumour. Ocular and general physical examination as well as serum chemistry studies and pathological examination of a lymph node biopsy specimen confirmed sarcoidosis as the cause of the mass. Treatment with systemic steroids resulted in improvement in the appearance of the lesion; however, the visual acuity remained impaired. Other such cases reported in the literature are reviewed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/9. Ultrastructural study of Norrie's disease.We studied the clinicopathologic and ultrastructural features of a full-term infant with Norrie's disease. The infant had bilateral retrolental fibrous vascular masses and retinal detachment with no other apparent physical abnormalities and no family history of ocular defects. A vitrectomy and a membrane peeling were attempted, and specimens of the retina, the retrolental membrane, and a vascularized epiretinal peripheral mass were examined by light and electron microscopy. The retrolental membrane was composed of layered collagenous tissue and contained structures resembling blood vessels. Inner and outer neuroblastic layers were identified in the retinal tissue, but no vessels were present. In the epiretinal mass, portions of retina and cortical vitreous were seen along with primitive vascular structures. The histologic appearance of these specimens suggests that the major pathologic event of Norrie's disease occurs in the retina in the third to fourth gestational month. We believe the subsequent ocular abnormalities found in this patient were secondary to this early retinal malformation and did not represent a progressive ocular disorder.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/9. Vitreoretinal traction and perimacular retinal folds in the eyes of deliberately traumatized children.The pathophysiology of perimacular folds in eyes of deliberately traumatized children is disputed. The authors reviewed the clinical and forensic records and systemic and ocular findings at autopsy of three children with perimacular retinal folds who died after being violently shaken. Two of the children suffered direct head trauma in addition to being shaken; one patient was violently shaken without any physical or forensic evidence of direct head trauma. No direct ocular trauma was detected. In each case, the vitreous had partially separated from the retina but remained attached to the internal limiting membrane at the apices of the folds and the vitreous base, implicating traction in the pathogenesis of these folds. Although some intraocular findings in deliberately traumatized children may be explained by direct head injury, the possibility of both direct head trauma and shaking must be considered. Perimacular folds may develop without direct ocular or head trauma and may constitute evidence supporting violent shaking.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/9. Hemorrhagic retinopathy in infancy: a clinicopathologic report.The clinical and pathological findings of an infant with severe, bilateral hemorrhagic retinopathy and unilateral retinal detachment are presented. acceleration-deceleration forces may have caused the ocular damage in the absence of significant direct trauma to the head or eyes. This mechanism may account for injuries inflicted by physical child abuse, but without the usual associated findings of this syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/9. Macular cysts and holes.The ocular findings in an eight-year-old Negro male with unilateral axial myopia and bilateral macular cysts and holes are presented. Normal psychophysical, electrophysiologic, and angiographic findings were noted despite obvious anatomic changes. The constellation of observed findings in this patient appears to be unique.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/9. Anomalous pigment epithelial photoreceptor relationships and receptor orientation.In order to further investigate the factors influencing retinal receptor orientation, three patients with local disturbances of the receptor/pigment epithelium (PE) interface have been evaluated. Psychophysical and clinical tests have been used to characterize the observed abnormalities. The following conclusions are made. Receptor orientation is lost following a serous detachment of the neurosensory retina and can recover following reattachment of the retina. orientation may be retained despite the presence of serous detachment of the PE, loss of the light/dark component of the electro-oculogram, and vitelliform-like lesions between the receptors and the PE.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/9. Common eye disorders: six patients to refer.Thorough ocular history taking and physical examination are essential to establish a diagnosis in patients presenting with eye conditions. Some conditions require ophthalmologic referral to avoid serious complications and even vision loss. These include corneal ulcers, retinal detachment, iritis, glaucoma, retinal artery occlusion, and endophthalmitis. Because primary open-angle glaucoma can have an insidious onset and cause irreversible damage, funduscopic examination should be a part of every complete physical examination.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
9/9. retinal detachment in a battered infant.A 12-week-old battered infant boy had bilateral retinal detachments. The retina in the left eye was considered inoperable, but retinal detachment surgery was performed in the right eye. This retina was reattached and limited vision was restored. The history, the location of the retinal pathology, and the absence of a lens coloboma helped differentiate this result of physical abuse from a congenital retinal detachment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |