CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency

Pechhacker, Monika K Grudzinska; Scipio, Matteo Di; Vig, Anjali; Tumber, Anupreet; Roslin, Nicole M.; Tavares, Erika; Vincent, Ajoy; Hèon, Elise

doi:10.1080/13816810.2020.1790013

Cited by 4 publications

(7 citation statements)

References 51 publications

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“…A literature review revealed hyperreflective columns in other early-stage CAMD cases with macular schisis 2,5 but not in late-stages with macular degeneration. 1,4 The hyperreflec-tive columns might be caused by a Müller cell pathology due to a selective effect of the in-frame deletion c.498-506del on this cell population.…”

Section: Optical Coherence Tomography Feature Of Retinoschisis In Crb...mentioning

confidence: 96%

“…A literature review revealed hyperreflective columns in other early-stage CAMD cases with macular schisis 2,5 but not in late-stages with macular degeneration. 1,4 The hyperreflective…”

Section: Optical Coherence Tomography Feature Of Retinoschisis In Crb...mentioning

confidence: 96%

“…CRB1-associated macular dystrophy (CAMD) presents initially with macular retinoschisis and in more advanced disease with degeneration of the macular outer retina. [1][2][3][4][5] CAMD differs clinically and genetically from otherwise retinawide CRB1-associated degeneration: it usually develops when 1 allele harbors the inframe deletion c.498-506del that solely affects the CRB1-A isoform, thereby still allowing for full-length expression of the more abundant CRB1-B isoform.…”

Section: Optical Coherence Tomography Feature Of Retinoschisis In Crb...mentioning

confidence: 99%

“…While this hypothesis seems intuitive and plausible, a study 4 conducted by our research group was unable to empirically confirm that these movements, referred to as "priming" in the article, could indeed trigger additional SO release. It has been reported that agitation plays a role in SO dispersion, ranging from typical flicking/tapping gestures that have been discouraged by some 4,5 to more forceful shocks and unintentional falls during product handling, from manufacturing to distribution to the end users, especially when the syringe is prefilled with the drug. 5,6 Another aspect that may warrant attention is the interaction between SO, agitation, protein aggregation, and potential inflammation.…”

Section: Silicone Oil From Syringes-a Potentially Overlooked Issue Fo...mentioning

confidence: 99%

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Optical Coherence Tomography Feature of Retinoschisis in CRB1-Associated Maculopathy

Bellingrath,

Birtel,

Yusuf

et al. 2024

JAMA Ophthalmol

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Section: Optical Coherence Tomography Feature Of Retinoschisis In Crb...mentioning

confidence: 96%

“…A literature review revealed hyperreflective columns in other early-stage CAMD cases with macular schisis 2,5 but not in late-stages with macular degeneration. 1,4 The hyperreflective…”

Section: Optical Coherence Tomography Feature Of Retinoschisis In Crb...mentioning

confidence: 96%

Section: Optical Coherence Tomography Feature Of Retinoschisis In Crb...mentioning

confidence: 99%

Section: Silicone Oil From Syringes-a Potentially Overlooked Issue Fo...mentioning

confidence: 99%

See 2 more Smart Citations

Optical Coherence Tomography Feature of Retinoschisis in CRB1-Associated Maculopathy

Bellingrath,

Birtel,

Yusuf

et al. 2024

JAMA Ophthalmol

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show abstract

“…In humans, at least 204 missense AHCY variants are annotated in public databases 1 or reported in the literature. Twelve of these variants are linked with a rare autosomal recessive disorder in the methionine metabolism of hypermethioninemia (R49C, R49H, A50T, T57I, G71S, D86G, A89V, E108K, T112stop, Y143C, V217M, and Y328D), characterized by a deficiency of AHCY (OMIM: 180960) (Baric et al, 2004(Baric et al, , 2005Buist et al, 2006;Vugrek et al, 2009;Honzik et al, 2012;Stender et al, 2015;Strauss et al, 2015;Vivante et al, 2017;Bas et al, 2020;Grudzinska Pechhacker et al, 2020). Patients typically display severe hepatic, muscle, and cognitive dysfunction, including multiorgan failure followed by death soon after birth (Tehlivets et al, 2013;Stender et al, 2015;Judkins et al, 2018).…”

Section: Impact Of Ahcy In Human Diseases Ahcy Involvement On Rare Mementioning

confidence: 99%

Functional and Pathological Roles of AHCY

Vizán

Croce

Aranda

2021

Front. Cell Dev. Biol.

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Adenosylhomocysteinase (AHCY) is a unique enzyme and one of the most conserved proteins in living organisms. AHCY catalyzes the reversible break of S-adenosylhomocysteine (SAH), the by-product and a potent inhibitor of methyltransferases activity. In mammals, AHCY is the only enzyme capable of performing this reaction. Controlled subcellular localization of AHCY is believed to facilitate local transmethylation reactions, by removing excess of SAH. Accordingly, AHCY is recruited to chromatin during replication and active transcription, correlating with increasing demands for DNA, RNA, and histone methylation. AHCY deletion is embryonic lethal in many organisms (from plants to mammals). In humans, AHCY deficiency is associated with an incurable rare recessive disorder in methionine metabolism. In this review, we focus on the AHCY protein from an evolutionary, biochemical, and functional point of view, and we discuss the most recent, relevant, and controversial contributions to the study of this enzyme.

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Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene

Ciki,

Alavanda

2024

Mol Syndromol

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Introduction: S-adenosylhomocysteine hydrolase (SAHH) is one of the enzymes involved in converting methionine to homocysteine with transmethylation processes. Methyltransfer reactions are impaired in SAHH deficiency. SAHH deficiency is multisystemic and antenatal onset disorder. It is also ultra rare disease. Only 19 cases have been reported so far. Case Presentation: We report an eighteen-month-old female patient who was investigated due to elevated transaminase levels, coagulopathy, cataract, hypotonia, and global developmental delay. She also had dysmorphic findings. Significant methionine elevation and mild homocysteine elevation were detected. Other metabolic investigations and laboratory findings were unremarkable. Homozygous novel variant in the AHCY gene and heterozygous novel variant in the PITX3 gene were found by whole-exome sequencing (WES) analysis. Methionine restricted diet, phosphatidylcholine, and creatine supplements were advised. Conclusion: In this report, a case with a novel variant in the AHCY gene and prominent dysmorphic findings was reported. More SAHH deficiency cases with different findings and phenotypes will be revealed through the use of WES and genetic panels.

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CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency

Cited by 4 publications

References 51 publications

Optical Coherence Tomography Feature of Retinoschisis in CRB1-Associated Maculopathy

Optical Coherence Tomography Feature of Retinoschisis in CRB1-Associated Maculopathy

Functional and Pathological Roles of AHCY

Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the <i>AHCY</i> Gene

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