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Retinal disorders v8.39 VSX2 Ida Ertmanska edited their review of gene: VSX2: Changed publications to: 8630490, 21976963, 23028343, 24001013, 35831950, 36264558, 38994775
Retinal disorders v8.39 VSX2 Ida Ertmanska changed review comment from: Biallelic VSX2 variants often result in microphthalmia, anophthalmia, coloboma (MAC):

PMID: 21976963 Reis et al., 2011
2 unrelated consanguineous families with AR isolated bilateral microphthalmia.
Pakistani family - affected individuals homozygous for c.668G>C (p.G223A).
Iranian family - affected individuals homozygous for c.249delG (p.Leu84SerfsX57). ERG performed on 2 sisters in this family showed inner retinal dysfunction in both.

As reviewed by Beisi Xu, there are also at least three different VSX2 variants reported in three unrelated patients with retinopathy and no reported MAC phenotype.

PMID: 36264558 Smirnov et al., 2022: 3 patients from 2 unrelated non-consanguineous Turkish families, harbouring homozygous missense variants: c.595C>T, p.(Arg199Cys) and c.698C>T, p.(Pro233Leu). All 3 patients presented with infantile nystagmus, low stable visual acuity, myopia and night blindness, cause by retinopathy with lens luxation.

PMID: 24001013 Khan et al., 2013: Case study - Female, 3yo, Saudi Arabian. Phenotype: Poor vision from birth, chorioretinal atrophy, retinal dysfunction; superior lens subluxation and smooth iris. Homozygous for c.773delA; p.(Lys258Serfs*44); variant heterozygous in unaffected brother and consanguineous parents. Homozygous frameshift BCAP29 variant also identified in patient - not much known about this gene.
Functional studies in mice and human retinal organoids indicate that the reported VSX2 variants have a variable effect on VSX2’s DNA binding properties, which may explain the phenotypic heterogeneity observed in patients (PMID: 23028343; 35831950; 38994775).

This gene is not yet associated with retinal disorders in OMIM or Gene2Phenotype.; to: Biallelic VSX2 (formerly CHX10) variants often result in microphthalmia, anophthalmia, coloboma (MAC).

PMID: 21976963 Reis et al., 2011
2 unrelated consanguineous families with AR isolated bilateral microphthalmia.
Pakistani family - affected individuals homozygous for c.668G>C (p.G223A).
Iranian family - affected individuals homozygous for c.249delG (p.Leu84SerfsX57). ERG performed on 2 sisters in this family showed inner retinal dysfunction in both.

As reviewed by Beisi Xu, there are also at least three different VSX2 variants reported in three unrelated patients with retinopathy and no reported MAC phenotype:

PMID: 36264558 Smirnov et al., 2022: 3 patients from 2 unrelated non-consanguineous Turkish families, harbouring homozygous missense variants: c.595C>T, p.(Arg199Cys) and c.698C>T, p.(Pro233Leu). All 3 patients presented with infantile nystagmus, low stable visual acuity, myopia and night blindness, cause by retinopathy with lens luxation.

PMID: 24001013 Khan et al., 2013: Case study - Female, 3yo, Saudi Arabian. Phenotype: Poor vision from birth, chorioretinal atrophy, retinal dysfunction; superior lens subluxation and smooth iris. Homozygous for c.773delA; p.(Lys258Serfs*44); variant heterozygous in unaffected brother and consanguineous parents. Homozygous frameshift BCAP29 variant also identified in patient - not much known about this gene.

Functional studies in mice and human retinal organoids indicate that the reported VSX2 variants have a variable effect on VSX2’s DNA binding properties, which may explain the phenotypic heterogeneity observed in patients (PMID: 23028343; 35831950; 38994775).
PMID: 8630490 Burmeister et al., 1996: Mice homozygous for a premature stop codon in VSX2/CHX10 are blind, with obvious microphthalmia, cataractous lens, a thin retina, and no optic nerve. Study notes that loss of VSX2CHX10 leads both to reduced proliferation of retinal progenitors and to a specific absence of differentiated bipolar cells - supportive of MAC / retinal degeneration phenotype seen in patients.

This gene is not yet associated with retinal disorders in OMIM or Gene2Phenotype.
Retinal disorders v8.39 VSX2 Ida Ertmanska reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976963, 24001013, 36264558; Phenotypes: Microphthalmia, isolated 2, OMIM:610093, retinal disorder, MONDO:0005283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.35 VSX2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: VSX2.
Retinal disorders v8.35 VSX2 Arina Puzriakova Classified gene: VSX2 as Amber List (moderate evidence)
Retinal disorders v8.35 VSX2 Arina Puzriakova Gene: vsx2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.34 VSX2 Arina Puzriakova Publications for gene: VSX2 were set to
Retinal disorders v8.33 VSX2 Arina Puzriakova Phenotypes for gene: VSX2 were changed from Microphthalmia/coloboma 3, OMIM:610092 to retinal disorder MONDO:0005283; Microphthalmia/coloboma 3, OMIM:610092
Retinal disorders v8.32 VSX2 Arina Puzriakova Mode of inheritance for gene: VSX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.31 VSX2 Arina Puzriakova Phenotypes for gene: VSX2 were changed from Eye Disorders to Microphthalmia/coloboma 3, OMIM:610092
Retinal disorders v8.4 VSX2 Beisi Xu reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36264558, 24001013, 20414678; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, pan-bipolar cell dysfunction, LENS SUBLUXATION, Microphthalmia, isolated 2 610093, Microphthalmia/coloboma 3 610092, CATARACTS, IRIS ABNORMALITIES; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 VSX2 Gavin Arno reviewed gene: VSX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 VSX2 Ivone Leong Source NHS GMS was added to VSX2.