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59 Possible Causes for Anosmia, Transillumination of the Iris, Visual Acuity Decreased

  • Albinism

    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] It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia.[ncbi.nlm.nih.gov]

  • Optic Atrophy-Intellectual Disability Syndrome

    It is also characterized by retinitis pigmentosa, anosmia (loss of sense of smell), and neuropathy in the hands and feet.[tsbvi.edu] 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]

  • Congenital Iris Coloboma

    Systemic Features: Arhina with anosmia is the most striking feature but it is usually accompanied by midface hypoplasia, a highly arched (or cleft) palate, and preauricular[disorders.eyes.arizona.edu] […] epithelium and deposition of iris pigment on anterior segment structures. 1 The classic triad of findings includes Krukenberg spindle, iris transillumination defects, and[jamanetwork.com] OMIM: 57 Head And Neck Eyes: retinal atrophy decreased visual acuity congenital cataract (in some patients) decreased color vision iridolenticular adhesions more Clinical[malacards.org]

  • Coloboma

    Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency.[mendelian.co] […] stroma. • usually wedge-shaped • best demonstrated by iris transillumination. • associated with Heterochromia iridis c/f • usually no visual defect, treatment • indicated[slideshare.net] Extent of decrease in visual acuity is defined by a viziometriya method.[medicine-for-you.com]

  • Amaurosis-Hypertrichosis Syndrome

    […] angiitis Allergic autoimmune thyroiditis Allergic bronchopulmonary aspergillosis Allergic encephalomyelitis Alliumphobia Allodoxaphobia Aloi Tomasini Isaia syndrome Alopecia anosmia[starrepublic.org] On examination, he had pendular nystagmus and iris transillumination.[nature.com] CRD is characterized by primary cone involvement or, sometimes, by concomitant loss of both cones and rods, explaining the predominant symptoms of CRDs: decreased visual acuity[medicbind.com]

  • Retinal Pigmentary Dystrophy

    Some of the patients have anosmia and neurogenic hearing loss. The metabolic defect is an inability in the conversion of phytanic acid to alpha-hydroxy-phytanic acid.[intechopen.com] The classic triad of PPDS is the presence of Krukenberg spindles (KS), transillumination iris defects (TID), and trabecular pigmentation. [2], [5], [6], [7], [8] Qing et al[jovr.org] Therefore, if visual acuity decreases or metamorphopsia (crooked lines and different sized squares on an Amsler Grid) develops in these patients, careful fluorescein or Indocyanine[retinaeyecenter.com]

  • Isolated optic nerve hypoplasia

    Associated features include developmental delay, seizures, visual impairment, sleep disturbance, precocious puberty, obesity, anosmia, sensorineural hearing loss and cardiac[patient.info] transillumination.[oatext.com] […] disorders Refsum disease: deficiency of phytanoyl-CoA hydroxylase (defect in α -oxidation of fatty acids) accumulation of phytanic acid in tissues retinitis pigmentosa, anosmia[unboundmedicine.com]

  • Oculocerebral Hypopigmentation Syndrome Type Cross

    […] syndrome N syndrome Periventricular heterotopia Naxos disease Alpha-1 antitrypsin deficiency Methionine adenosyltransferase deficiency Myoglobinuria recurrent Congenital anosmia[checkrare.com] Red reflex on transillumination of the iris and nystagmus are important clues to the diagnosis in dark-skinned people.[clinicalgate.com] Associated eye findings include nystagmus, decreased visual acuity, decreased pigmentation of the retina, and strabismus.[checkorphan.org]

  • Knobloch Syndrome Type 1

    Hypogonadism 7 with or without Anosmia 7 Hypogonadotropic Hypogonadism 8 with or without Anosmia 6 Hypogonadotropic Hypogonadism 9 with or without Anosmia 5 Hypohidrotic[preventiongenetics.com] Anterior segment abnormalities included absent iris crypts, iris transillumination, lens subluxation, and cataract.[ncbi.nlm.nih.gov] Patients with pseudophakic RD, like those with other forms of RRD, usually present with symptoms of flashes of light, floaters, decreased visual acuity, or visual field defects[institut-vision.org]

  • Hermansky-Pudlak Syndrome Type 7

    (Kallmann syndrome 1)KAL1 308700 KAL1 300836 10 Hypogonadotropic hypogonadism 11 with or without anosmia (Kallmann syndrome 11) 614840 TACR3 162332 Hypogonadotropic hypogonadism[diagenos.com] OCT of a patient with albinism showing foveal hypoplasia Iris transillumination : The iris (the colored area in the center of the eye) in albinism has little to no pigment[eyewiki.aao.org] Most frequently patients had decreased visual acuity, hypercholesterolemia or bleeding diathesis ( Table 1 ).[omicsonline.org]

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