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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease microphthalmia
Comorbidity C0017601|glaucoma
Sentences 3
PubMedID- 24499692 The mean macular foveal thickness of nanophthalmos with glaucoma [(323.70 +/- 104.09) microm] was thinner than those without glaucoma [(403.50 +/- 130.24) microm] (t = 3.50, p = 0.002).
PubMedID- 22799444 Here, we report a case of angle closure glaucoma in nanophthalmos accompanied by ocular cystinosis, foveoschisis and pigmentary retinal dystrophy.
PubMedID- 21042563 In particular, mutations in several genes for transcription factors including the homeobox genes, pax6 (11q), foxe3 (1q), pitx3 (10q) and vsx2 (14q), and the bzip transcription factor v-maf avian musculo-aponeurotic fibrosarcoma oncogene homolog (maf, 16q) underlie cataract plus anterior segment developmental disorders and microphthalmia sometimes associated with secondary glaucoma [41].

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