Article
Variability of retinopathy consequent upon novel mutations in LAMA1.
Ophthalmic genetics - 1 Oct 2022
Schiff Elena R, Aychoua Nancy, Nutan Savita, Davagnanam Indran, Moore Anthony T, Robson A G, Patel C K, Webster Andrew R, Arno Gavin
Abstract excerpt
PURPOSE: Bi-allelic mutations in LAMA1 (laminin 1) (OMIM # 150320) cause Poretti-Boltshauser Syndrome (PTBHS), a rare non-progressive cerebellar dysplasia disorder with ophthalmic manifestations including oculomotor apraxia, high myopia, and retinal dystrophy. Only 38 variants, nearly all loss of function have been reported. Here, we describe novel LAMA1 variants and detailed retinal manifestations in two...
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