scholarly journals Long-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial

2018 ◽  
Vol 39 (3) ◽  
pp. 307-313 ◽  
Author(s):  
Rene Choi ◽  
Aruna Gorusupudi ◽  
Paul S. Bernstein
Keyword(s):  
Fish Oil ◽  
Autosomal Dominant ◽  
Macular Dystrophy ◽  
Interventional Trial ◽  
Long Term Follow Up

scholarly journals Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Carlotta Spagnoli ◽  
Susanna Rizzi ◽  
Grazia Gabriella Salerno ◽  
Daniele Frattini ◽  
Carlo Fusco
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Current Knowledge ◽  
Brain Mri ◽  
Early Adulthood ◽  
Cerebellar Atrophy ◽  
Mild Intellectual Disability ◽  
Long Term Follow Up

Abstract Background Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. Case presentation We report the long-term follow-up of a 19 years-old boy first evaluated at 18 months of age because of toe walking and unstable gait with frequent falls. He developed speech delay, mild intellectual disability, a slowly progressive pyramidal syndrome, microcephaly, bilateral optic subatrophy and a sensory axonal polyneuropathy. Brain MRI showed cerebellar atrophy, stable along serial evaluations (last performed at 18 years of age). Targeted NGS sequencing disclosed the de novo c.914C > T missense, likely pathogenic variant on KIF1A gene. Conclusions We report on a previously unpublished de novo heterozygous likely pathogenic KIF1A variant associated with slowly progressive complicated SPG30 and stable cerebellar atrophy on long-term follow-up, adding to current knowledge on this HSP subtype.

scholarly journals Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation

2019 ◽  
Author(s):  
Peng Fan ◽  
Di Zhang ◽  
Kun-Qi Yang ◽  
Qiong-Yu Zhang ◽  
Fang Luo ◽  
...  
Keyword(s):  
Vertebral Artery ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Autosomal Dominant Disorder ◽  
Conserved Domain ◽  
Long Term Follow Up ◽  
Generation Sequencing

Abstract BACKGROUND Hypertension and brachydactyly syndrome (HTNB), also called Bilginturan syndrome, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a short stature, brachydactyly, and death from stroke before the age of 50 years when untreated. The purpose of the present study was to identify a PDE3A mutation leading to HTNB associated with vertebral artery malformation in a Chinese family. METHODS Peripheral blood samples were collected from all subjects for DNA extraction. Next-generation sequencing and Sanger sequencing were performed to identify the PDE3A mutation. A comparative overview was performed in the probands with HTNB caused by PDE3A mutations. RESULTS Genetic analysis identified a missense mutation in PDE3A, c.1346G>A, in the proband with HTNB. This mutation, resulting in p.Gly449Asp, was located in a highly conserved domain and predicted to be damaging by different bioinformatics tools. Cosegregation analyses showed that the proband inherited the identified mutation from her father. Antihypertensive therapy was effective for the proband. Comparative overview of HTNB probands with 9 different PDE3A mutations revealed phenotypic heterogeneity. CONCLUSIONS Genetic screening can significantly improve the diagnosis of HTNB patients at an early age. Our study not only adds to the spectrum of PDE3A mutations in the Chinese population and extends the phenotype of HTNB patients to include vertebral malformation but also improves the awareness of pathogenesis in HTNB patients. We emphasize the importance of antihypertensive treatment and long-term follow-up to prevent stroke and adverse cardiovascular events.

scholarly journals Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients

2020 ◽  
Vol 4 (5) ◽  
pp. 437-440
Author(s):  
Daniel J. Oh ◽  
Veeral Sheth ◽  
Gerald A. Fishman ◽  
Michael A. Grassi
Keyword(s):  
Natural History ◽  
Carbonic Anhydrase ◽  
Macular Dystrophy ◽  
Long Term Follow Up ◽  
History Of ◽  
Male Patients ◽  
Unrelated Male ◽  
Good Vision

Purpose: We demonstrate that Crumbs homologue 1 ( CRB1) maculopathy should be considered in the differential of petaloid pigmentary changes in the macula of young children with good vision who may be asymptomatic. Methods: We report on 2 unrelated male patients presenting at a young age with decreased vision from a macular dystrophy due to biallelic CRB1 mutations. Results: In addition to a previously described pathogenic variant, Ile167Gly169del, 2 new pathogenic missense variants in CRB1, Thr745Met and Cys948Tyr, are reported here. Conclusions: Although CRB1 mutations have been more commonly described in retinitis pigmentosa and Leber congenital amaurosis, we demonstrate that mutations in CRB1 can cause a maculopathy in which initial features can resemble juvenile X-linked retinoschisis. We show that the accompanying macular edema is responsive to carbonic anhydrase inhibitors. With long-term follow-up for each case, we illustrate the natural history of CRB1 maculopathy based on clinical examination and diagnostic imaging.

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