Closure of a full‐thickness macular hole without vitrectomy in choroideraemia

Ishikawa, Kiichi; Gekka, Tamaki; Hayashi, Takaaki; Kikuchi, Sachiko; Kameya, Shuhei; Tsuneoka, Hiroshi

doi:10.1111/cxo.12467

Cited by 2 publications

(5 citation statements)

References 8 publications

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“…Previous studies have revealed that the majority of CHM patients harbor loss-of-function/null-type variants in the CHM gene 21 , 22 . In fact, our 13/14 (93%) variants were loss-of-function variants, including 4 nonsense [p.(Gly176Glu, Glu177Ter);family 4, p.Arg253Ter 14 , 15 ;family 10, p.Ser345Ter 13 ;family 7, and p.Tyr531Ter;family 1], 3 probable splicing (c.49 + 5G > A, c.116 + 5G > A, c.820-2A > T 16 ), 4 small deletion/insertion (p.Ser105ArgfsTer20 13 ;family 8, p.Thr206AsnfsTer17 23 ;families 11 and 13, p.Thr216LeufsTer16 16 ;family 9, and p.Asn360ThrfsTer49 18 ;family 3), and 2 large deletion (families 5 and 15) variants (Table 2 ). Only one family (family 12) had a missense variant (p.Leu550Pro), which has been reported as the cause of CHM 17 .…”

Section: Discussionmentioning

confidence: 94%

“…As for visual acuity, there were differences in the logarithm of the minimum angle of resolution (logMAR) acuities at presentation between the right eye (RE) and LE in 7 patients due to sight-threatening retinal conditions such as macular hole (LE of patient 14 15 ), choroidal neovascularization (CNV) [both eyes (BE) of patient 15, RE of patient 16, LE of patient 18], and severe chorioretinal atrophy (RE of patient 11, RE of patient 17, and RE of patient 22). Scatter plots of the decimal best-corrected visual acuity (BCVA) as a function of age were constructed.…”

Section: Resultsmentioning

confidence: 99%

“…Genetic confirmation of the diagnosis was achieved in all 24 patients except for one patient (patient 19) who was a younger brother of patient 18 (family 12). Another patient (patient 14; family 10), who had a macular hole in his left eye, was previously reported 15 , and the phenotypes of female carriers in families 2, 9, and 11 were previously described clinically and genetically 16 .…”

Section: Participantsmentioning

confidence: 99%

“…1) and their family members. The exonic regions of the CHM gene were analyzed by Sanger sequencing 15,16 and/or WES. WGS was performed in two patients (patients 8 and 9 in family 6) for whom no pathogenic variant nor deletion was detected by Sanger sequencing or WES.…”

Section: Participantsmentioning

confidence: 99%

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Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families

Hayashi

Kameya

Mizobuchi

et al. 2020

Sci Rep

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Choroideremia (CHM) is an incurable progressive chorioretinal dystrophy. Little is known about the natural disease course of visual acuity in the Japanese population. We aimed to investigate the genetic spectrum of the CHM gene and visual acuity outcomes in 24 CHM patients from 16 Japanese families. We measured decimal best-corrected visual acuity (BCVA) at presentation and follow-up, converted to logMAR units for statistical analysis. Sanger and/or whole-exome sequencing were performed to identify pathogenic CHM variants/deletions. The median age at presentation was 37.0 years (range, 5–76 years). The mean follow-up interval was 8.2 years. BCVA of the better-seeing eye at presentation was significantly worsened with increasing age (r = 0.515, p < 0.01), with a high rate of BCVA decline in patients > 40 years old. A Kaplan–Meier survival curve suggested that a BCVA of Snellen equivalent 20/40 at follow-up remains until the fifties. Fourteen pathogenic variants, 6 of which were novel [c.49 + 5G > A, c.116 + 5G > A, p.(Gly176Glu, Glu177Ter), p.Tyr531Ter, an exon 2 deletion, and a 5.0-Mb deletion], were identified in 15 families. No variant was found in one family only. Our BCVA outcome data are useful for predicting visual prognosis and determining the timing of intervention in Japanese patients with CHM variants.

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Section: Discussionmentioning

confidence: 94%

Section: Resultsmentioning

confidence: 99%

Section: Participantsmentioning

confidence: 99%

Section: Participantsmentioning

confidence: 99%

See 2 more Smart Citations

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families

Hayashi

Kameya

Mizobuchi

et al. 2020

Sci Rep

Self Cite

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“…Furthermore, Ishikawa et al reported a case of MH self-closure without surgery, which occurred following two months of treatment with topical betamethasone. Under this light, inflammation may play a pivotal role in MH development in late-stage CHM [ 46 ].…”

Section: Applications Of Pars Plana Vitrectomy For Common Clinical Co...mentioning

confidence: 99%

Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature

Iovino

Rosolia

Damiano

et al. 2023

Life

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Inherited retinal diseases (IRDs) are a group of clinically and genetically heterogeneous disorders that may be complicated by several vitreoretinal conditions requiring a surgical approach. Pars plana vitrectomy (PPV) stands as a valuable treatment option in these cases, but its application in eyes with such severely impaired chorioretinal architectures remains controversial. Furthermore, the spreading of gene therapy and the increasing use of retinal prostheses will end up in a marked increase in demand for PPV surgery for IRD patients. The retinal degeneration that typically affects patients with hereditary retinal disorders may influence the execution of the surgery and the expected results. Considering the importance of PPV application in IRD-related complications, it is fundamental to try to understand from the literature what is adequate and safe in posterior eye segment surgery. Use of dyes, light toxicity, and risk of wounding scar development have always been themes that discourage the execution of vitreoretinal surgery in already impaired eyes. Therefore, this review aims to comprehensively summarize all PPV applications in different IRDs, highlighting the favorable results as well as the potential precautions to consider when performing vitreoretinal surgery in these eyes.

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Closure of a full‐thickness macular hole without vitrectomy in choroideraemia

Cited by 2 publications

References 8 publications

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families

Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature

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