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107 Possible Causes for Congenital Deafness, Transillumination of the Iris, Visual Acuity Decreased

  • Albinism

    deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum; the underlying cause may be defective development[icd9data.com] An African girl with OCA-2 showing iris transillumination, yellowish tinted hair and many solar lentigines.[clinicaladvisor.com] A 39-year-old man with foveal hypoplasia, nystagmus, and decreased visual acuity was found to have multiple, cutaneous, hypopigmented macules.[ncbi.nlm.nih.gov]

  • Oculocutaneous Albinism

    An African girl with OCA-2 showing iris transillumination, yellowish tinted hair and many solar lentigines.[clinicaladvisor.com] It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia.[ncbi.nlm.nih.gov] deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum; the underlying cause may be defective development[icd9data.com]

  • Ocular Albinism

    Other definite findings include lack or absence of stereoacuity, transillumination defects of iris and pendular nystagmus which typically develops in affected males during[symptoma.com] A 39-year-old man with foveal hypoplasia, nystagmus, and decreased visual acuity was found to have multiple, cutaneous, hypopigmented macules.[ncbi.nlm.nih.gov] Abstract Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for 2% of the congenitally deaf population.[ncbi.nlm.nih.gov]

  • Optic Atrophy-Intellectual Disability Syndrome

    transillumination defects, concave iris, increased pigmentation of trabecular meshwork, deposited pigment on Schwalbe's line AD - %600510 PRADER-WILLI SYNDROME Refractive[eyewiki.aao.org] His best corrected visual acuity was decreased to 0.3 and 0.4 in the right and left eyes, respectively.[frontiersin.org] CFH age-related macular degeneration, complex etiology; recessive drusen CHM Choroideremia CIB2 Deafness, Usher syndrome CISD2 Wolfram syndrome CKAP4 Interstitial Cystitis[molecularvisionlab.com]

  • Usher Syndrome

    The other major cause of deafness and blindness is congenital rubella.[patient.info] Typical retinitis pigmentosa, flat electroretinography, congenital sensorineural hearing loss, high intraocular pressure, Krukenberg spindle, iris concavity, radial iris transillumination[ncbi.nlm.nih.gov] Longitudinal analysis showed that visual acuity and visual field decreased more rapidly in subjects carrying MYO7A mutations than in those carrying USH2A mutations (mean annual[ncbi.nlm.nih.gov]

  • Anterior Polar Cataract

    […] may sweep material into rings on the lens capsule Best viewed with dilation Transillumination defect and fibrillar material at the papillary margin Open angle with brown[medrounds.org] This is especially true if an unexplained decrease in visual acuity occurs without a concurrent change in the posterior polar cataract.[emedicine.medscape.com] Ocular defects (congenital cataract, salt and pepper retinopathy and microphthalmos). ii. Ear defects (deafness due to destruction of organ of Corti). iii.[ikeyes.blogspot.com]

  • X-Linked Recessive Ocular Albinism

    Perhaps three-quarters of carrier females have transillumination defects in the iris.[disorders.eyes.arizona.edu] Visual acuity directly improves with decreased nystagmus.[reviewofophthalmology.com] The concurrence of congenital deafness that occurs in about 20% of the patients is a distinctive noncutaneous feature of the syndrome.[eyewiki.aao.org]

  • Oculocutaneous Albinism Type 5

    Ocular findings include iris transillumination, blonde fundus, and foveal hypoplasia.[coavision.org] visual acuity.[ashg.org] The concurrence of congenital deafness that occurs in about 20% of the patients is a distinctive noncutaneous feature of the syndrome.[eyewiki.aao.org]

  • Usher Syndrome Type 1D

    Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed.[mendelian.co] Symptoms - Usher syndrome- type 1D Night blindness Decreased visual acuity Constricted visual fields Learning difficulties Visual difficulties Causes - Usher syndrome- type[checkorphan.org] Affected individuals present with congenital deafness and a highly variable degree of retinal degeneration.[ncbi.nlm.nih.gov]

  • Ocular Albinism with Congenital Sensorineural Deafness

    Other highly variable features include reduced visual acuity, strabismus, and an iris transillumination defect.[orpha.net] All types of albinism are characterized by foveal hypoplasia, nystagmus, photophobia, and decreased visual acuity in addition to absent or decreased melanotic pigment in skin[entokey.com] Most of the affected individuals showed transillumination defects of the iris.[bio2rdf.org]

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