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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease fundus albipunctatus
Comorbidity C0311338|pigmentary retinal dystrophy
Sentences 2
PubMedID- 22799444 The association of nanophthalmos and pigmentary retinal dystrophy with or without foveoschisis or optic disc drusen has been described in the literature after its first description as a new syndrome in 1985 [1,2].
PubMedID- 22131869 Atypical pigmentary retinal dystrophy with early macular involvement is the characteristic fundus abnormality in bbs [34, 35].

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