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607 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Mutation in the ALMS1 Gene

  • Alstrom Syndrome

    The funduscopy showed pale optic discs, atrophic maculopathy, golden appearance of peripheral and midperipheral fundus, coarser pigmentary changes with a "bone-spicule" configuration[ncbi.nlm.nih.gov] Hearing All subjects showed a bilateral symmetrical moderate to profound sensorineural hearing loss. The onset of hearing loss was either congenital or early childhood.[journal.frontiersin.org] Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1K

    The fundoscopic finding of both eyes showed typical pigmentary degeneration with multiple bone spicule pigmentations in over the entire retina, attenuated retinal vessels,[mafiadoc.com] Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

    Missing: Mutation in the ALMS1 Gene
  • Retinitis pigmentosa 40

    Symptoms - Retinitis pigmentosa Mottling of the retinal pigment epithelium with black bone-spicule pigmentation is typically indicative (or pathognomonic) of retinitis pigmentosa[checkorphan.org] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002;31:79-83. Hearn T, Spalluto C, Phillips VJ, et al.[rarediseases.org]

  • Retinitis Pigmentosa

    spicules.[ncbi.nlm.nih.gov] Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002;31:79-83. Hearn T, Spalluto C, Phillips VJ, et al.[rarediseases.org] Dilated funduscopy also showed bone spicule-like pigmented deposits, typical for retinitis pigmentosa.[ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Retinitis Pigmentosa 23

    Diagnosis RETINITIS PIGMENTOSA (RP) •History •Bone-spicule pigment •Waxy pale optic disc 11.[slideshare.net] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002;31:79-83. Hearn T, Spalluto C, Phillips VJ, et al.[rarediseases.org]

  • Retinitis

    Examples of bone spicules.[healio.com] Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002;31:79-83. Hearn T, Spalluto C, Phillips VJ, et al.[rarediseases.org] SignsSigns In chronological order :In chronological order :  Arteriolar narrowingArteriolar narrowing  Peripheral bone-spicule pigmentsPeripheral bone-spicule pigments 23[slideshare.net]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Retinitis Pigmentosa 7

    The macula looks smooth and normal; however, the retinal vessels are attenuated and there are bone spicules throughout the periphery. OS: Vertical C/D ratio is 0.0.[retinagallery.com] Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002;31:79-83. Hearn T, Spalluto C, Phillips VJ, et al.[rarediseases.org] LCA is characterized by night blindness, constricted visual fields, narrowed vessels, bone-spicule pigmentation in midperiphery of retina, pigment deposits in macular region[cags.org.ae]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Retinitis Pigmentosa 26

    There are bone spicules and peripheral pigment degeneration extending inside the arcades, again not much different from the photos in 2003.[retinagallery.com] Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002;31:79-83. Hearn T, Spalluto C, Phillips VJ, et al.[rarediseases.org] Fundus revealed arteriolar attenuation and diffuse bone-spicule pigmentation involving the macula [Figure 1] a and [Figure 1] b.[ijo.in]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Retinitis Pigmentosa 32

    There are bone spicules and peripheral pigment degeneration extending inside the arcades, again not much different from the photos in 2003.[retinagallery.com] Con-rod dystrophies are often syndromic, see for instance: Alström syndrome ( ALMS1 gene mutations), Bardet-Beidl syndrome ( ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5[bredagenetics.com] Diagnosis RETINITIS PIGMENTOSA (RP) •History •Bone-spicule pigment •Waxy pale optic disc 11.[slideshare.net]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Retinitis Pigmentosa Type 4

    The classic sign of RP is clumps of pigment in the peripheral retinal called "bone-spicules."[igdf.org.uk] Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002;31:79-83. Hearn T, Spalluto C, Phillips VJ, et al.[rarediseases.org] Fundus examination of both eyes revealed optic disc pallor, peripapillary atrophy, arteriolar attenuation, and typical bone spicules involving the mid-peripheral retina.[karger.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss

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