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A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.
Gooley, Kieran; Williams, Peter; Mack, Heather; Zhu, Victor; Langsford, David; Pianta, Tim; Barit, David; Mahmood, Khalid; Savige, Judy.
Afiliación
  • Gooley K; Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Australia.
  • Williams P; Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Australia.
  • Mack H; Department of Ophthalmology, The University of Melbourne, East Melbourne, Australia.
  • Zhu V; Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Australia.
  • Langsford D; Renal Unit, Northern Health, Epping, Australia.
  • Pianta T; Renal Unit, Northern Health, Epping, Australia.
  • Barit D; Renal Unit, Northern Health, Epping, Australia.
  • Mahmood K; Melbourne Bioinformatics, The University of Melbourne, Parkville, Australia.
  • Savige J; Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Australia.
Ophthalmic Genet ; 44(5): 417-422, 2023 10.
Article en En | MEDLINE | ID: mdl-37537573
BACKGROUND: Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in LAMB2 and COL4A5, respectively, and both affect basement membranes in the kidney and the eye. This study describes the ocular features in an individual with a homozygous LAMB2 pathogenic variant and compares the reported abnormalities in Pierson syndrome with those in Alport syndrome. METHODS: A 28-year-old man who developed kidney failure 10 years previously and subsequently had an atrial septal defect repair was suspected of having genetic kidney disease on the basis of his likely diagnosis of Focal and Segmental Glomerulosclerosis (FSGS), his young age at presentation, and his cardiac anomaly. He then underwent Whole Exome Sequencing and a formal ophthalmological examination. RESULTS: The patient was found to have a homozygous Likely Pathogenic missense variant (p.(Arg1719Cys)) in LAMB2 consistent with the diagnosis of Pierson syndrome. He had normal visual acuity, normal optic globe and cornea size, and normal lens appearance on direct examination. Upon further testing, his cornea demonstrated central thinning. There was also increased corneal endothelial pleomorphism, a reduced foveal reflex, and a blunted foveal curvature, similar to the features seen in X-linked Alport syndrome. CONCLUSION: Our patient had a later onset form of Pierson syndrome or "FSGS type 5, with or without ocular abnormalities," consistent with his "milder" LAMB2 missense variant. The resemblance of the ocular features in Pierson syndrome and X-linked Alport syndrome suggests that mutations in LAMB2 and COL4A5 have similar effects on basement membranes and the pathogenesis of ocular damage.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glomeruloesclerosis Focal y Segmentaria / Nefritis Hereditaria / Síndrome Nefrótico Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glomeruloesclerosis Focal y Segmentaria / Nefritis Hereditaria / Síndrome Nefrótico Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido