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201 Ocular Disease With Retinal FindingsWilliam Fletcher Hoyt, MDChoroidal folds may result from choroidal tumors, compression on the eye wall from thyroid ophthalmopathy, orbital pseudotumor, orbital tumor, posterior scleritis, hypotony, scleral laceration, retinal detachment, marked hyperopia, or secondary to papilledema. Intraocular pressure measurements, refr...
202 Ocular Manifestations of Congenital/Inherited DiseasesWilliam Fletcher Hoyt, MDTuberous sclerosis is an autosomal dominant phakomatosis characterized by astrocytic hamartomas of the retina or optic nerve, adenoma sebaceum of the face, periungual fibromas, and astrocytic hamartomas of the brain, with secondary seizures and mental retardation. Disease/Diagnosis: Tuberous Scleros...
203 Ocular Manifestations of Congenital/Inherited DiseasesLarry P. Frohman, MDThis girl was 8 years old when these photographs were taken. She had been referred by pediatric neurology with ataxia. When seen, the findings of ataxia, poor convergence, early head thrusting maneuvers, and relatively preserved motility, in conjunction with the conjunctival findings as seen in the ...
204 Ocular Manifestations of Congenital/Inherited DiseasesLarry P. Frohman, MDThis girl was 8 years old when these photographs were taken. She had been referred by pediatric neurology with ataxia. When seen, the findings of ataxia, poor convergence, early head thrusting maneuvers, and relatively preserved motility, in conjunction with the conjunctival findings as seen in the ...
205 Ocular Manifestations of Congenital/Inherited DiseasesSteven Galetta, MDThis patient is a 40-year-old man with a history of abetalipoproteinemia (Bassen-Kornweig syndrome), diagnosed at age 9. Neurologic complications have included ataxia, retinal degeneration, peripheral neuropathy, progressive leg weakness, dysarthria, and intermittent bladder incontinence. On his neu...
206 Ocular Manifestations of Congenital/Inherited DiseasesSteven Galetta, MDThis patient is a 40-year-old man with a history of abetalipoproteinemia (Bassen-Kornweig syndrome), diagnosed at age 9. Neurologic complications have included ataxia, retinal degeneration, peripheral neuropathy, progressive leg weakness, dysarthria, and intermittent bladder incontinence. On his neu...
207 Ocular Manifestations of Congenital/Inherited DiseasesSteven Galetta, MDThis patient is a 40-year-old man with a history of abetalipoproteinemia (Bassen-Kornweig syndrome), diagnosed at age 9. Neurologic complications have included ataxia, retinal degeneration, peripheral neuropathy, progressive leg weakness, dysarthria, and intermittent bladder incontinence. On his neu...
208 Ocular Manifestations of Congenital/Inherited DiseasesSteven Galetta, MDThis patient is a 40-year-old man with a history of abetalipoproteinemia (Bassen-Kornweig syndrome), diagnosed at age 9. Neurologic complications have included ataxia, retinal degeneration, peripheral neuropathy, progressive leg weakness, dysarthria, and intermittent bladder incontinence. On his neu...
209 Ocular Manifestations of Congenital/Inherited DiseasesSteven Galetta, MDThis patient is a 40-year-old man with a history of abetalipoproteinemia (Bassen-Kornweig syndrome), diagnosed at age 9. Neurologic complications have included ataxia, retinal degeneration, peripheral neuropathy, progressive leg weakness, dysarthria, and intermittent bladder incontinence. On his neu...
210 Ocular Manifestations of Congenital/Inherited DiseasesSteven Galetta, MDThis patient is a 40-year-old man with a history of abetalipoproteinemia (Bassen-Kornweig syndrome), diagnosed at age 9. Neurologic complications have included ataxia, retinal degeneration, peripheral neuropathy, progressive leg weakness, dysarthria, and intermittent bladder incontinence. On his neu...
211 Ocular Manifestations of Congenital/Inherited DiseasesWilliam Fletcher Hoyt, MDImage shows a patient with the Laurence-Moon-Biedl syndrome, an autosomal recessive syndrome characterized by obesity, mental retardation, retinitis pigmentosa (see Image 91_07), polydactyly, and hypogonadism. Pair with 91_07.
212 Ocular Manifestations of Congenital/Inherited DiseasesJacqueline A. Leavitt, MDThis 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve p...
213 Ocular Manifestations of Congenital/Inherited DiseasesMitchell J. Wolin, MDPatients with olivopontocerebellar atrophy may exhibit signs of ocular motor deficits, such as ocular motor apraxia or cerebellar eye signs, and peripheral pigmentary retinopathy and optic atrophy. Pair with 94_55.
214 Ocular Manifestations of Congenital/Inherited DiseasesMitchell J. Wolin, MDPatients with olivopontocerebellar atrophy may exhibit signs of ocular motor deficits, such as ocular motor apraxia or cerebellar eye signs, and peripheral pigmentary retinopathy and optic atrophy. Pair with 94_54.
215 Ocular Manifestations of Congenital/Inherited DiseasesSteven Galetta, MDThis 21-year-old woman had a 2-year history of blurred vision. A computerized visual field demonstrated a temporal defect OS. MRI confirmed a chiasmal mass lesion. The pathology was consistent with hemangioblastoma. Further workup revealed retinal angiomas and multiple other hemangioblastomas of the...
216 Ocular Manifestations of Congenital/Inherited DiseasesJacqueline A. Leavitt, MDThis 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve p...
217 Ocular Manifestations of Congenital/Inherited DiseasesSteven Galetta, MDThis 21-year-old woman had a 2-year history of blurred vision. A computerized visual field demonstrated a temporal defect OS. MRI confirmed a chiasmal mass lesion. The pathology was consistent with hemangioblastoma. Further workup revealed retinal angiomas and multiple other hemangioblastomas of the...
218 Ocular Manifestations of Congenital/Inherited DiseasesLarry P. Frohman, MDThis 14-year-old boy presented with sudden visual loss of the right eye that occurred 3 weeks before and due to a central retinal vein occlusion. His ocular history was quite complicated. He had had a resection of a lymphangioma of the left upper lid at age 7 months and underwent left orbitotomy for...
219 Ocular Manifestations of Congenital/Inherited DiseasesMark J. Kupersmith, MDThis 9-year-old girl, who had complained of recurrent spontaneous bleeding from the palate and slight swelling and increased warmth over the left cheek, was found to have Wyburn-Mason syndrome. Image 1993_16 shows a small area of arteriovenous shunt on the left optic disc in this patient, who has no...
220 Ocular Manifestations of Congenital/Inherited DiseasesMark J. Kupersmith, MDThis 9-year-old girl, who had complained of recurrent spontaneous bleeding from the palate and slight swelling and increased warmth over the left cheek, was found to have Wyburn-Mason syndrome. Image 1993_16 shows a small area of arteriovenous shunt on the left optic disc in this patient, who has no...
221 Ocular Manifestations of Congenital/Inherited DiseasesLarry P. Frohman, MDThis 14-year-old boy presented with sudden visual loss of the right eye that occurred 3 weeks before and due to a central retinal vein occlusion. His ocular history was quite complicated. He had had a resection of a lymphangioma of the left upper lid at age 7 months and underwent left orbitotomy for...
222 Ocular Manifestations of Congenital/Inherited DiseasesLarry P. Frohman, MDThis 14-year-old boy presented with sudden visual loss of the right eye that occurred 3 weeks before and due to a central retinal vein occlusion. His ocular history was quite complicated. He had had a resection of a lymphangioma of the left upper lid at age 7 months and underwent left orbitotomy for...
223 Ocular Manifestations of Congenital/Inherited DiseasesJacqueline A. Leavitt, MDThis 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve p...
224 Ocular Manifestations of Congenital/Inherited DiseasesJacqueline A. Leavitt, MDThis 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve p...
225 Ocular Manifestations of Congenital/Inherited DiseasesSteven Galetta, MDThis 21-year-old woman had a 2-year history of blurred vision. A computerized visual field demonstrated a temporal defect OS. MRI confirmed a chiasmal mass lesion. The pathology was consistent with hemangioblastoma. Further workup revealed retinal angiomas and multiple other hemangioblastomas of the...
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