Disease #05094 (blindness)

Official abbreviation -
Name blindness
OMIM ID -
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00225645 Sibling 1 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - - - - neuropathy, optic, OPA, blindness Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma(HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551); Cystic spaces in the inner nuclear layer in OCT ACO2 ACO2 2 1 Thomas Foulonneau
00225646 Sibling 2 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - - - - neuropathy, optic, OPA, blindness Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma (HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551) ACO2 ACO2 2 1 Thomas Foulonneau
00225647 Patients 1 and 2 PubMed: Metodiev 2014 2 affected M ? France - - - - - neuropathy, optic, blindness Blindness (HP:0000618); Optic disc pallor (HP:0000543); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Paracentral scotoma (HP:0030528) ACO2 ACO2 2 2 Thomas Foulonneau
00428315 Fam2PatII2 PubMed: Zhao 2022 3-generation family, 3 affected, 2 unaffected carrier females F - China - - - - - blindness uncomplicated pregnancy; born at term, normal weight, not following moving light stimuli; 31y-no light sensation, enophthalmos, severe ocular shrinkage, horizontal distribution central corneal porcelain white plaque, growth of neovascularizations and other intraocular structures not observed; psychomotor development, normal, auditive evaluation normal - NDP 1 3 Johan den Dunnen
00428316 Fam1PatIII1 PubMed: Zhao 2022 4-generation family, 5 affected (5M), 4 unaffected carrier mother M - China - - - - - blindness born at term, normal weight; early childhood bilateral blindness; 35y-no light sensation, enophthalmos, ocular shrinkage, corneal leukoma, no growth of massive neovascularizations/other intraocular structures; mild sensorineural deafness; MRI brain normal; mild cognitive impairment (22/30) - NDP 1 5 Johan den Dunnen
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