1/10. ischemia of ciliary arterial circulation from ocular compression.Two patients developed unilateral central retinal artery and posterior ciliary artery occlusions related to ocular compression during general anesthesia. One patient had evidence of extensive choroidal ischemia with diffuse hypopigmentation, pigmentary mottling of the posterior pole, and disc edema. electroretinography showed diminution of the A and B waves. The other patient showed patchy choroidal ischemia with subsequent development of wedge-shaped areas of pigmentary atrophy and mottling in the midperiphery. iridocyclitis and prolonged hypotony were also present. Retinal and posterior ciliary artery occlusion (perhaps at the level of the ophthalmic artery) can occur as a result of ocular compression by a face mask or an improperly positioned headrest. Systemic hypotension is a factor in many cases. Proper positioning of the head on an adequate headrest and avoidance of ocular compression will prevent the occurrence of retinal and choroidal occlusion during general anesthesia.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/10. Clinical findings in Japanese patients with waardenburg syndrome type 2.PURPOSE: To determine the visual characteristics of Japanese subjects with the waardenburg syndrome type 2. methods: The visual functions of 11 albino patients who were identified from the screening of 240 children attending a school for children with a hearing deficit were studied. The ophthalmological examinations included eye position, visual acuity, biomicroscopy, ophthalmoscopy, visual field by confrontation or Goldmann's perimetry, stereoacuity by the Titmus test, and color vision by the Ishihara pseudoisochromatic plates. RESULTS: A combination of congenital sensory deafness and partial ocular albinism without lateral displacement of the lacrimal puncta was observed in 11 (4.6%) of the students with hearing deficit. All these children had sectorial heterochromia irides with local retinal hypopigmentation. Lid deformities were not present. The retinal vasculature was normal, and macular hypoplasty was not found. Other than 1 eye with hyperopic amblyopia, no serious visual disturbance was found in these patients. CONCLUSIONS: The 11 students were classified as having waardenburg syndrome type 2. None had a critical visual deficit, and all had partial heterochromia irides and retinal hypopigmentation.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
3/10. Penetrating trauma associated with findings of multiple evanescent white dot syndrome in the second eye: coincidence or an atypical case of sympathetic ophthalmia?PURPOSE: To report a case of sympathetic ophthalmia (SO) resembling multiple evanescent white dot syndrome (MEWDS). methods: Retrospective chart review. RESULTS: A 17-year-old girl with a ruptured globe in the right eye underwent prompt primary repair and vitrectomy, scleral buckling, and silicone oil infusion 3 weeks later. Eight weeks after injury, she presented with visual loss in the left eye. Fundus examination in the left eye disclosed optic disk swelling and well-circumscribed, 100 to 500 microm diameter gray-white lesions at the level of the retinal pigment epithelium (RPE) posterior to the equator, sparing the fovea. On fluorescein angiography, the lesions appeared as areas of blocked choroidal fluorescence in the arterial phase and were associated with dye leakage in a wreathlike pattern during venous filling. Dye leakage occurred at the optic disk. Visual field testing showed depressed central sensitivity and an enlarged blind spot in the left eye. The patient was treated with prednisone and underwent diagnostic enucleation of the right eye. Histopathology showed rare choroidal granulomata and pigment phagocytosis. Vision improved to 20/20 in the left eye, and the window defects persisted. Visual field testing 6 months later was normal. One month after discontinuing prednisone, new areas of RPE hypopigmentation developed. Two weeks later, choroidal inflammation recurred and periphlebitis developed. CONCLUSION: This case indicates that SO can mimic MEWDS.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
4/10. Ocular involvement in histidinaemia.Two patients, a brother and sister, presenting with reduced visual acuity, nystagmus, hypopigmentation of the maculae, head nodding, dysarthria and other neuromuscular incoordinations are reported. They were found to be suffering from histidinaemia by aminoacid analysis of urine.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
5/10. Clinical-ultrastructural study of thioridazine retinopathy.Advanced thioridazine retinopathy was observed clinically and histopathologically in a 61-year-old man with progressive, severe loss of vision who had received thioridazine in high dosages 18 years previously. The ocular fundi showed multiple confluent, nummular areas of hypopigmentation and choroidal atrophy posterior to the equator. atrophy and disorganization of the photoreceptor outer segments appeared to be the initial degenerative event, followed by loss of the retinal pigment epithelium and choriocapillaris.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
6/10. A clinicopathologic report of the retinal lesions associated with didanosine.didanosine, a purine analogue with antiretroviral activity, is used in the treatment of human immunodeficiency virus disease. Associated toxic effects of didanosine include pancreatitis, peripheral neuropathy, and retinopathy. The retinal lesions associated with didanosine therapy were studied in a 6-year-old girl with acquired immunodeficiency syndrome. Gross examination disclosed multiple well-circumscribed depigmented lesions in the midperipheral retina. Microscopic examination of these lesions showed multiple areas of retinal pigment epithelial (RPE) loss, some surrounded by areas of hypertrophy or hypopigmentation of the RPE. Partial loss of the choriocapillaris and neurosensory retina were also noted in areas of diseased RPE. Transmission electron microscopy showed numerous membranous lamellar inclusions and cytoplasmic bodies in the RPE cells. These data show that didanosine primarily affects the RPE and that the choriocapillaris and overlying neurosensory retina are also dystrophic in areas of RPE loss.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
7/10. Ocular findings in a patient with prader-willi syndrome.A 25-year-old woman is described whose clinical features included infantile hypotonia, obesity after infancy, intellectual impairment, dysmorphic facial features, short stature, small hands and feet, and abnormal dentition, which are typical of the prader-willi syndrome. The patient had almond-shaped eyes, spot-like hypopigmentation under the retina, and a polychromatic luster in the anterior and posterior subcapsular regions of both lenses. Using fluorescence fundus angiography, we identified choroid-transmitted fluorescence in the areas of spot-like hypopigmentation. Recordings of both electroretinogram and visual evoked potential were normal. Ophthalmologists should be aware of the characteristic features of prader-willi syndrome because some of the ocular disorders associated with this syndrome can be treated.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
8/10. Macular coloboma-like lesions and pigment abnormalities as complications of cryotherapy for retinopathy of prematurity in very low birth-weight infants.PURPOSE: cryotherapy for retinopathy of prematurity (ROP) is effective in reducing the incidence of blindness in premature infants. However, macular complications associated with successful treatment have not yet been well studied. methods: Eighteen very low birth-weight (< 1,251 g) infants (32 eyes) who received cryotherapy for ROP were examined serially for regression of disease and for development of macular abnormalities. Patient characteristics and treatment factors were evaluated to identify risk factors associated with the development of macular abnormalities after successful cryotherapy. RESULTS: Eleven of 32 eyes (34.4%) that had undergone cryotherapy developed significant macular abnormalities, including macular coloboma-like change (six eyes), macular hyperpigmentation (two eyes), irregularly mottled macular hyperpigmentation and hypopigmentation (two eyes), and macular hyperpigmentation and hypopigmentation with subretinal proliferation (one eye). Corrected visual acuity in affected eyes ranged from 0.15 to 0.03 (20/133 to 20/666) compared with 1.0 to 0.2 (20/20 to 20/100) in treated eyes without macular abnormality (P = .0002). No difference in gestational age was noted between infants who did or did not develop macular coloboma-like lesions or pigment abnormalities. Eyes with macular abnormality had more posterior disease (P = .037) and received significantly more cryotherapy than did eyes without macular abnormality (P = .0005). CONCLUSIONS: In very low birth-weight infants receiving cryotherapy for ROP, development of macular coloboma-like lesions and macular pigment abnormalities were related to greater severity of ROP and a greater amount of cryotherapy. Macular abnormalities were associated with markedly worse visual outcomes than were treated eyes without macular abnormality.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
9/10. Long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.Long-chain 3-hydroxyacyl-coenzyme a (CoA) dehydrogenase is one of three enzyme activities of the mitochondrial trifunctional protein. We report the clinical findings of 13 patients with long-chain 3-hydroxyacyl-coa dehydrogenase deficiency. At presentation the patients had had hypoglycemia, cardiomyopathy, muscle hypotonia, and hepatomegaly during the first 2 years of life. Seven patients had recurrent metabolic crises, and six patients had a steadily progressive course. Two patients had cholestatic liver disease, which is uncommon in beta-oxidation defects. One patient had peripheral neuropathy, and six patients had retinopathy with focal pigmentary aggregations or retinal hypopigmentation. All patients were homozygous for the common mutation G1528C. However, the enoyl-coa hydratase and 3-ketoacyl-CoA thiolase activities of the mitochondrial trifunctional protein were variably decreased in skin fibroblasts. Dicarboxylic aciduria was detected in 9 of 10 patients, and most patients had lactic acidosis, increased serum creatine kinase activities, and low serum carnitine concentration. Neuroradiologically there was bilateral periventricular or focal cortical lesions in three patients, and brain atrophy in one. Only one patient, who has had dietary treatment for 9 years, is alive at the age of 14 years; all others died before they were 2 years of age. Recognition of the clinical features of long-chain 3-hydroxyacyl-CoA deficiency is important for the early institution of dietary management, which may alter the otherwise invariably poor prognosis.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
10/10. Autosomal dominant vitreoretinochoroidopathy.BACKGROUND: Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially in the ocular fundus. We describe the clinical features of a family, some members of which have this disorder. This is the first such report of a family outside the united states. methods: We examined a family of 15 individuals, seven of whom were affected. RESULTS: The main clinical findings were peripheral pigmentary changes for 360 degrees, with a discrete boundary near the equator. In one patient, a partial vitreous detachment was found that was creating increasing traction to the macula and to the peripheral retina. Vitreous surgery successfully relieved the traction, and vision recovered from 20/100 to 20/25. One patient lost visual acuity at the age of 10 years when complete rhegmatogenous detachment occurred. In two women, a horizontal nystagmus was present showing typical signs of a congenital nystagmus. Results of electrooculography demonstrated a marked reduction of light rise and a clear reduced Arden ratio in one patient. CONCLUSIONS: Autosomal dominant vitreoretinochoroidopathy appears clinically as mainly a peripheral tapetoretinal disease; patients with this disease have been reported in and outside the United States. In addition to the typical peripheral features, significant vitreous traction maculopathy and congenital nystagmus associated with the disease were found.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
| | Next -> |