Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.
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DOI: 10.1080/13816810.2022.2161580
Abstract: BACKGROUND To present the retinal and systemic findings in two siblings with compound heterozygous MPDZ variants that were found to have different chorioretinal manifestations. Materials and Methods: Two sibling patients underwent comprehensive ophthalmic examination, including… read more here.
Keywords: recessive mpdz; mpdz variants; retinal manifestations; manifestations autosomal ... See more keywords