Anterior Scleral Thickness and Other Dimensions in Nanophthalmos by Swept-Source Optical Coherence Tomography: A Comparative Study

Fernández-Vigo, José Ignacio; Rodríguez-Quet, Olivia; Montolío-Marzo, Elena; Burgos-Blasco, Bárbara; Kudsieh, Bachar; González-Martin-Moro, Julio; García-Feijóo, Julián

doi:10.3390/jcm12175564

Cited by 4 publications

(2 citation statements)

References 29 publications

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“…In addition, the study of the regulation mechanism of ocular axial length may also open new ideas for the study of myopia, because the mechanism responsible for the “short axial length " may colocalizes with the pathway involved in the long axial length (myopia). In addition to these clinical features in the anterior segment of the nanophthalmos, the choroid and sclera are thicker in patients than in healthy eyes ( Rajendrababu et al, 2022 ; Fernández-Vigo et al, 2023 ). Therefore, the underlying mechanism of nanophthalmos can be used to study the anterior and posterior segments.…”

Section: Discussionmentioning

confidence: 99%

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

Li,

Ma,

et al. 2024

Front. Genet.

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PurposeNanophthalmos is a congenital ocular structural anomaly that can cause significant visual loss in children. The early diagnosis and then taking appropriate clinical and surgical treatment remains a challenge for many ophthalmologists because of genetic and phenotypic heterogeneity. The objective of this study is to identify the genetic cause of nanophthalmos in the affected families and analyze the clinical phenotype of nanophthalmos with MFRP gene variation (Microphthalmia, isolated; OMIM#611040 and Nanophthalmos 2; OMIM#609549, respectively).MethodsComprehensive ophthalmic examinations were performed on participants to confirm the phenotype. The genotype was identified using whole exome sequencing, and further verified the results among other family members by Sanger sequencing. The normal protein structure was constructed using Alphafold. Mutant proteins were visualized using pymol software. Pathogenicity of identified variant was determined by in silico analysis and the guidelines of American College of Medical Genetics and Genomics (ACMG). The relationship between genetic variants and clinical features was analyzed.ResultsFive nanophthalmos families were autosomal recessive, of which four families carried homozygous variants and one family had compound heterozygous variants in the MFRP gene. Both family one and family three carried the homozygous missense variant c.1486G>A (p.Glu496Lys) in the MFRP gene (Clinvar:SCV005060845), which is a novel variant and evaluated as likely pathogenic according to the ACMG guidelines and in silico analysis. The proband of family one presented papilloedema in both eyes, irregular borders, thickened retinas at the posterior pole, tortuous and dilated retinal vessels, and indistinguishable arteries and veins, while the proband of family three presented uveal effusion syndrome-like changes in the right eye. In families one and 3, despite carrying the same gene variant, the probands had completely different clinical phenotypes. The homozygous nonsense variant c.271C>T (p.Gln91Ter) (Clinvar:SCV005060846) of the MFRP gene was detected in family 2, presenting shallow anterior chamber in both eyes, pigmentation of peripheral retina 360° from the equator to the serrated rim showing a clear demarcation from the normal retina in the form of strips. Family four proband carried the homozygous missense variant c.1411G>A (p.Val471Met) in the MFRP gene (Clinvar:SCV005060847), family five proband carried compound heterozygous missense variants c.1486G>A (p.Glu496Lys) and c.602G>T (p.Arg201Leu) in the MFRP gene (Clinvar:SCV005060848), which is a novel variant and evaluated as likely pathogenic according to the ACMG guidelines and in silico analysis, and they all presented clinically with binocular angle-closure glaucoma, family four also had retinal vein occlusion in the right eye during the follow-up.ConclusionIn this study, pathogenic variants of the MFRP gene were detected in five nanophthalmos families, including two novel variants. It also revealed a distinct phenotypic diversity among five probands harboring variants in the MFRP gene. Our findings extend the phenotype associated with MFRP variants and is helpful for ophthalmologists in early diagnosis and making effective treatment and rehabilitation strategies.

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Section: Discussionmentioning

confidence: 99%

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

Li,

Ma,

et al. 2024

Front. Genet.

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“…Different imaging techniques have been used to assess, in vivo, the anterior segment biometrics of the eye, mostly via ultrasound biomicroscopy (UBM) and spectral domain optical coherence tomography (OCT) [ 14 ]. Nowadays, the OCT technology has evolved to the newer Swept Source (SS)-OCT technology that offers high resolution images and accurate measurements of the anterior segment structures, including aqueous humour outflow drainage system [ 15 , 16 ].…”

Section: Introductionmentioning

confidence: 99%

Anterior Scleral Thickness and Anterior Segment Biometrics Measured with Swept Source Ocular Coherence Tomography in High Myopic Eyes with and without Glaucoma: A Comparative Study

Kudsieh,

Vega-González,

Bryan

et al. 2024

Diagnostics

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Background: To assess the anterior scleral thickness (AST), Schlemm’s canal diameter (SCD), trabecular meshwork diameter (TMD) and conjunctiva tenon capsule thickness (CTT) in high myopic (HM) subjects and HM subjects with glaucoma (HMG) compared to control eyes. Methods: One hundred and twenty eyes were included, and AST at 0, 1, 2 and 3 mm from the scleral spur, SCD, TMD and CTT were measured. Results: Mean age was 64.2 ± 11.0 years, and the temporal SCD and temporal TMD were significantly longer in the HMG subjects compared to the controls (380.0 ± 62 μm vs. 316.7 ± 72 μm, p = 0.001) and (637.6 ± 113 μm vs. 512.1 ± 97 μm, p = 0.000), respectively. There were no significant differences between the HM and HMG subjects in SCD and TMD (all p > 0.025). Compared to the HM subjects, the temporal AST0 (432.5 ± 79 μm vs. 532.8 ± 99 μm, p = 0.000), temporal AST1 (383.9 ± 64 μm vs. 460.5 ± 80 μm, p = 0.000), temporal AST2 (404.0 ± 68 μm vs. 464.0 ± 88 μm, p = 0.006) and temporal AST3 (403.0 ± 80 μm vs. 458.1 ± 91 μm, p = 0.014) were significantly thinner in the HMG group. No differences were found between the CTT in the three groups (all p > 0.025). Conclusions: Our data indicate a thinner AST in HMG subjects and no differences in SCD and TMD between HM and HMG subjects.

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Clinical update in nanophthalmos: Features, diseases and complications associated

Fernández-Vigo,

Gómez-de-Liaño,

Rodríguez-Quet

et al. 2023

Archivos de la Sociedad Española de Oftalmología (English Editi

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Anterior Scleral Thickness and Other Dimensions in Nanophthalmos by Swept-Source Optical Coherence Tomography: A Comparative Study

Cited by 4 publications

References 29 publications

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

Anterior Scleral Thickness and Anterior Segment Biometrics Measured with Swept Source Ocular Coherence Tomography in High Myopic Eyes with and without Glaucoma: A Comparative Study

Clinical update in nanophthalmos: Features, diseases and complications associated

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