Variable Absent Bone marrow cystine crystals Present Present Present Ocular Retinopathy Present Variable Absent Crystalline deposits in cornea and conjunctiva Present Present Present Photophobia Usually present Variable Absent Renal Tubular dysfunction [entokey.com]

ORPHA:352740 Synonym(s): Waardenburg syndrome type 2 with ocular albinism Prevalence: Inheritance: - Age of onset: Infancy, Neonatal ICD-10: E70.3 OMIM: 103470 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for [orpha.net]

Our patient only presented with bilateral pigmentary retinopathy. Small angioid streaks were present around the optic nerve, but we believe these were an incidental finding. [reviewofoptometry.com]

In Caucasian individuals the amount of pigment present at birth varies from minimal to moderate. [patient.info]

• Skin Patch

  Also characteristic are the white forelock, poliosis, and hypopigmented skin patches. [disorders.eyes.arizona.edu]

  Other clinical manifestations (e.g. white forelock, skin patches) are more frequent in type I. Type III Waardenburg syndrome (Klein-Waardenburg syndrome) is similar to type I but is also characterized by musculoskeletal abnormalities 3,4. [centogene.com]

• Cranial Nerve Involvement

  Page 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎ [books.google.com]

• Mydriasis

  Page 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎ [books.google.com]

• Babinski Sign

  Congenital corneal dystrophy Corneal dystrophy Opacification of the corneal stroma Corneal opacity Edema Visual impairment Vestibular hypofunction Hemiplegia/hemiparesis Intellectual disability Limb ataxia Hypoplasia of the corpus callosum Sensory neuropathy Babinski [mendelian.co]

• Hyperreflexia

  Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Abnormality of the skeletal system and Autism, related diseases and genetic alterations Hyperreflexia and Epistaxis, related diseases and [mendelian.co]

• Hyporeflexia

  […] dystrophy Corneal dystrophy Opacification of the corneal stroma Corneal opacity Edema Visual impairment Vestibular hypofunction Hemiplegia/hemiparesis Intellectual disability Limb ataxia Hypoplasia of the corpus callosum Sensory neuropathy Babinski sign Hyporeflexia [mendelian.co]

• Albuminuria

  Spasticity Decreased activity of mitochondrial respiratory chain Rotary nystagmus Bilateral ptosis Congenital cataract Muscular hypotonia of the trunk Myopathy Myopia Cataract Ptosis Muscular hypotonia Global developmental delay Profound hearing impairment Albuminuria [mendelian.co]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment of the irismelanoma by photocoagulation: a case report. OphthalmicSurg 1987;18:4244.3. de Corral LR, Conway M, Peyman GA, Constanteras A.Argon laser treatment of an abnormal angle vessel producingrecurrent hyphema. [dokumen.tips]

Prognosis - Albinism ocular late onset sensorineural deafness Not supplied. [checkorphan.org]

Associations cleft lip and palate Hirschsprung disease CT scan inner ear abnormalities, including aplasia of the posterior semicircular canal 6,7 Treatment and prognosis hearing loss: hearing augmentation cochlear implantation for severe hearing loss [radiopaedia.org]

These patients have a poor visual prognosis. Less common ocular complications of CRS include iris atrophy, uveal coloboma, nystagmus, strabismus, corneal haze, optic atrophy and high refractive error. [reviewofoptometry.com]

[…] both normal and mutated mtDNA in one person, result in variable expression in mitochondrial inherited disease kjer optic nerve neuropathy ADOA AD, OPA1,3,4 gene mutate mitochondrial dysfunction mediating the death of optic nerve fibers better visual prognosis [quizlet.com]

Prognosis Lifespan, development, intelligence, and fertility in patients with OCA are not different from unaffected patients. [eyewiki.aao.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Systematic review of the etiology of bilateral sensorineural hearing loss in children. Int J Pediatr Otorhinolaryngol. 2004 Sep. 68(9):1193-8. [Medline]. Mehta D, Noon SE, Schwartz E, et al. [emedicine.medscape.com]

What is the likely etiology? a. Autoimmune. b. Virus. c. Trauma. d. Bacterial. 4. What additional testing would be most beneficial? a. Ocular coherence tomography. b. Electroretinogram. c. B-scan ultrasonography. d. Pachymetry. 5. [reviewofoptometry.com]

Mastroiacovo et al. (1995) suggested autosomal dominant inheritance with variable expression and incomplete penetrance 'in a proportion of cases,' or multifactorial etiology ... [ibis-birthdefects.org]

[…] examples malformation deformation dysfunction dysplasia types of multiple congenital defects sequence complex (development field defects) association syndrome minor anomalies CNS defects, examples, and causes neural tube defect, types, epidemiology, etiology [quizlet.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Epidemiology of Congenital Disorders of Pigmentation Waardenburg syndrome (WS) is probably less frequent than OCA. [accessmedicine.mhmedical.com]

The Epidemiology of Anotia and Microtia. Harris, J. [ibis-birthdefects.org]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

An epidemiological and clinical study of ocular manifestations of congenital rubella syndrome in Omani children. Arch Ophthalmol 2004 Apr;122(4):541-5. 2. Weisinger HS, Pesudovs K. Optical complications in congenital rubella syndrome. [reviewofoptometry.com]

The pathophysiologic mechanisms of hearing loss are unknown but Merchant et al identified separation of the basilar membrane and the basement membrane and cellular dysmorphology within the organ of corti. [17] Norrie Disease is a rare disorder caused [emedicine.medscape.com]

Prevention - Albinism ocular late onset sensorineural deafness Not supplied. Diagnosis - Albinism ocular late onset sensorineural deafness The diagnosis of ocular albinism is based on the characteristic eye findings. [checkorphan.org]

Ushers syndrome-deafness and progressive blind-ness: clinical cases, prevention, theory and literature survey.J Chron Dis 1969;22:133151.5. Souied E, Soubrane G, Benlian P, et al. [dokumen.tips]

American Tinnitus Association American Tinnitus Association, 2007 "Good source ... " Non-profit organization dedicated to promoting the relief, prevention ... [ibis-birthdefects.org]

This risk has been prevented in some children who have undergone neonatal liver transplantation. 53 Pharmacologic treatment with 2-(2-nitro-4-trifluoromethylbenzyl)-1,3-cyclohexanedione (NTBC) has changed the outcome of this disorder dramatically. 90% [entokey.com]

The World Health Organization encourages member countries to eradicate CRS by 2010. 1 New CRS cases have been rare since the introduction of the measles-mumps-rubella (MMR) vaccine in 1969. 2 The Centers for Disease Control and Prevention recommends vaccinations [reviewofoptometry.com]