Symptoma

Ocular Albinism with Congenital Sensorineural Deafness

MITF

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]

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]

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]

  • Macrocephaly

    Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. [disorders.eyes.arizona.edu]

    Corresponds to variant dbSNP:rs149617956 Ensembl. 1 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) The disease is caused by mutations affecting the gene represented in this entry. [uniprot.org]

    Test Registry Albinism, Oculocutaneous, Type VI OCA6 113750 Genetic Test Registry Albinism, Oculocutaneous, Type VII OCA7 615179 Genetic Test Registry Chediak-Higashi Syndrome CHS 214500 Genetic Test Registry Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly [ukgtn.nhs.uk]

    DISEASE: Melanoma, cutaneous malignant 8 (CMM8) : An autosomal CC recessive syndrome characterized by severe microphthalmia, CC profound congenital sensorineural hearing loss, lack of pigment in CC the hair, skin, and eyes, macrocephaly, facial dysmorphism [genome.jp]

    […] specific gene site of interest used for specific localization of gene direct visualization of anomalies (microdeletion) at the molecular level (when deletion is too small to be visualized in karyotype) cerebral gigiantism high birthweight advance bone age macrocephaly [quizlet.com]

  • 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]

  • Miosis

    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]

  • Frontal Bossing

    The head circumference one one patient was consistent with macrocephaly accompanied by frontal bossing, shallow orbits, preauricular pits and posteriorly rotated ears. A skeletal survey revealed evidence for osteopetrosis. [disorders.eyes.arizona.edu]

  • 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]

  • 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]

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]

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]

Epidemiologic patterns inchildhood hearing loss: a review. Int J Ped Otorhinolaryngol1989;17:239266.3. Brookhouser PE. Sensorineural hearing loss in children. In:Cummings CW, editor. Otolaryngology: head and neck sur-gery. [dokumen.tips]

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]

Deubiquitinated by USP13, preventing its degradation. [uniprot.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]