1/9. phenotype of a patient with pure partial trisomy 2p(p23-->pter).We present the case of a 7-month-old girl with the karyotype 46,XX, der(13) t(2;13)(p23;p11.2).ish der(13)(wcp2 ) de novo. Painting confirmed that the additional segment on 13p was of chromosome 2 origin, resulting in trisomy 2p23 -->2pter. The child had a prominent forehead with a flat hemangioma, depressed nasal bridge, protruding tongue, posteriorly angulated ears, esotropia with poor abduction of the right eye, bilateral severe myopia (-5.5 D), retinal hypopigmentation, foveal hypoplasia, and striking left optic nerve hypoplasia. She also had pectus excavatum, a protruding abdomen with diastasis recti, generalized hypotonia, delayed fine and gross motor development, grade II reflux on the left side, and grade III-IV reflux on the right side. An EEG showed epileptiform discharges. Computed tomographic scan of the brain showed decreased white matter, but magnetic resonance imaging showed normal results.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/9. A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).A case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
3/9. Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents.In this report we describe two siblings, a 17-year-old male and his deceased sister, born to consanguineous parents, and presenting an oculocerebral syndrome with hypopigmentation as first delineated by Cross in 1967. In addition to the cutaneous hypopigmentation, both presented deep mental retardation and spastic tetraplegia with athetoid movements. A remarkable finding in this family is that a third sibling, an otherwise normal 23-year-old male, presents the same hypopigmentation with white-grey hair colour as his two severely affected siblings.- - - - - - - - - - ranking = 7keywords = hypopigmentation (Clic here for more details about this article) |
4/9. Ocular abnormalities associated with cutaneous melanoma and vitiligolike leukoderma.Several varieties of ocular pathology are associated with acquired cutaneous hypomelanosis (leukoderma; vitiligo). Our current study was undertaken to investigate the relationship between ophthalmologic disorders and a specific depigmentary phenomenon, the vitiligolike leukoderma of cutaneous melanoma. Over the past 14 years, eight patients with cutaneous melanoma and widespread areas of hypopigmentation were identified at the Pigmented Lesion Clinic of the massachusetts General Hospital. The seven patients who underwent ophthalmologic examination had pigment-related ocular abnormalities. Among these were inflammations of the uveal tract in three patients, heterochromia in two, halo nevi of the choroid in one, and hypopigmentation and/or atrophy of the retinal pigment epithelium or choroid in four. Our findings demonstrate that ocular disease may be a component in a syndrome consisting also of cutaneous melanoma and vitiligolike leukoderma and suggest the need for complete ophthalmologic examinations in patients with melanoma and leukoderma.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
5/9. Eye findings in patients with phenylketonuria.Untreated phenylketonuria (PKU) is characterized by excretion of phenylpyruvic acid in the urine and mental retardation. Reported eye abnormalities include photophobia (probably due to the albinoid iris), cataracts, and corneal opacities. Eleven patients in an institutionalized population of approximately 1,000 mentally retarded patients had PKU. Cataracts were found in six patients. One patient had bilateral phthisis bulbi and one patient had monocular phthisis. No corneal opacities were found otherwise. All patients with cataracts were middle-aged or had a history of severe self-induced trauma or treatment with high dosages of thioridazine hydrochloride. albinism is associated with anomalous chiasmal routing of optic fibers and abnormal, extraocular motility. The ocular hypopigmentation of patients with PKU did not have the same results; all seeing patients were orthophoric. Although eye abnormalities are common in PKU except for hypopigmentation, none can be considered a direct effect of the inborn error of metabolism.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
6/9. Autosomal dominant vitreoretinochoroidopathy.Autosomal dominant vitreoretinochoroidopathy is a newly described fundus dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. In this zone, there are a discrete posterior boundary, preretinal punctate white opacities, retinal arteriolar narrowing and occlusion, and, in some cases, choroidal atrophy. Most affected family members have diffuse retinal vascular incompetence, cystoid macular edema, and presenile cataracts. The vitreous is characterized by fibrillar condensation and a moderate number of cells. Electroretinograms are normal in younger affected individuals and are only moderately abnormal in older ones. Preretinal neovascularization, present in the posterior pole, is progressive in the proband. There are no identifiable systemic or skeletal abnormalities, high myopia, optically empty vitreous, lattice degeneration, areas of white-without-pressure, retinal breaks, or retinal detachment; thus, previously described vitreoretinopathies can be excluded from diagnostic consideration. Progression of this diagnostic seems to be extremely slow in most family members.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
7/9. prader-willi syndrome.BACKGROUND: First described in 1956, prader-willi syndrome is a neurogenetic condition characterized by infantile hypotonia, hypogonadism and obesity. Mental deficiency, behavioral abnormalities, and obvious dysmorphic features are frequently found as well. It is a relatively common condition, with an incidence estimated to be between 1 in 10,000 to 25,000 live births. Few studies have been published that investigated the ocular defects associated with this syndrome. methods: This case report discusses the systemic and oculo-visual abnormalities of a 34-year-old white male enrolled in the Easter Seal Society of Metropolitan chicago/illinois College of optometry Eye Care and Treatment Program. Examination techniques commonly used for patients with cognitive/developmental dysfunctions were utilized. RESULTS: Our findings include ocular hypopigmentation with reduced visual acuity, a myopic refractive error, exotropia, corneal abnormalities, glaucoma, and other ocular and systemic health abnormalities. CONCLUSIONS: Reported ocular findings for patients with prader-willi syndrome include iris hypopigmentation with depressed visual acuity, moderate to high refractive error, and strabismus. Individual patients with this syndrome have also been reported with cataracts, congenital ocular fibrosis syndrome, diabetic retinopathy, and congenital ectropion uveal. The numerous ocular, systemic, and functional abnormalities of patients with prader-willi syndrome make it mandatory that all routinely receive primary optometric vision care.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
8/9. angelman syndrome.BACKGROUND: Angelman (happy puppet) syndrome is a neuro-developmental condition characterized by an ataxic gait with puppet-like limb movements, paroxysmal bouts of laughter and severe mental retardation. Although considered a rare condition, over 140 cases have been documented since its designation in 1965. To date, only one study has been published investigating the ocular defects of angelman syndrome. methods: In this paper we report the cognitive, motor, systemic, and oculo-visual findings of a 3 year old child with angelman syndrome. RESULTS: The oculo-visual findings include choroidal hypopigmentation, iris hypopigmentation, strabismus, and hyperopia. CONCLUSIONS: As in many neuro-developmental conditions, early diagnosis is crucial. The ocular findings of fundal/iris hypopigmentation and strabismus with minimal refractive error in conjunction with the cognitive, behavioral, and motoric characteristics the patient exhibits may be the first clues for the diagnosis of angelman syndrome in a developmentally delayed child. The initiation of individualized optometric diagnosis and treatment is important for all children with developmental disabilities. The eye care professional should work in concert with speech, occupational, and physical therapists, neurologists, and special educators in the multi-disciplinary treatment and habilitation of all children with disabilities including those with angelman syndrome.- - - - - - - - - - ranking = 3keywords = hypopigmentation (Clic here for more details about this article) |
9/9. 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) |