Blepharophimosis ptosis epicanthus inversus syndrome clinical review and institutional case series

Purpose: To review the genetic basis, clinical assessment and surgical management of blepharophimosis–ptosis–epicanthus inversus syndrome (BPES), and critically describe an institutional case series.Materials and Methods: A targeted narrative literature update was undertaken, with bibliographic verification through PubMed-indexed records and accessible journal sources. The institutional component is described in the submitted manuscript as a retrospective review of 29 patients managed during 2013–2023. Its eligibility criteria, ethics documentation and patient-level dataset require confirmation.Results: The reported cohort comprised 16 females and 13 males, with a mean age of 8.8 years. All 29 patients underwent medial canthoplasty; 27 subsequently underwent frontalis suspension after 6–9 months. At a reported mean follow-up of 18 months, postoperative margin reflex distance 1 was 3.8 ± 0.5 mm; palpebral fissure height was 7.8 ± 0.9 mm in right eyes and 7.3 ± 0.8 mm in left eyes. The evaluable sample for each measurement was not stated. Paired baseline measurements, visual acuity change, amblyopia treatment outcomes, validated patient-reported outcomes and molecular testing results were unavailable for this revision.Conclusions: The available summary describes postoperative eyelid position but cannot establish functional benefit or superiority of a surgical sequence. Clinical management should prioritize visual development and individual anatomy. Genotype–phenotype predictions, especially for ovarian function, require cautious counseling.

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Publication Details

Journal
IP International Journal of Ocular Oncology and Oculoplasty
Published
2026-10-30
DOI
https://doi.org/10.18231/j.ijooo.15062.1792407214
Primary Topic
Ocular Disorders and Treatments
Type
article
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article

Blepharophimosis ptosis epicanthus inversus syndrome clinical review and institutional case series

Pranami Dewan, Mehul Shah, Riddhi Shah, Nikita Balani et al.
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IP International Journal of Ocular Oncology and Oculoplasty
Ocular Disorders and Treatments
article

Blepharophimosis ptosis epicanthus inversus syndrome clinical review and institutional case series

Pranami Dewan, Mehul Shah, Riddhi Shah, Nikita Balani, Shreya Shah
article en

Abstract

Purpose: To review the genetic basis, clinical assessment and surgical management of blepharophimosis–ptosis–epicanthus inversus syndrome (BPES), and critically describe an institutional case series.Materials and Methods: A targeted narrative literature update was undertaken, with bibliographic verification through PubMed-indexed records and accessible journal sources. The institutional component is described in the submitted manuscript as a retrospective review of 29 patients managed during 2013–2023. Its eligibility criteria, ethics documentation and patient-level dataset require confirmation.Results: The reported cohort comprised 16 females and 13 males, with a mean age of 8.8 years. All 29 patients underwent medial canthoplasty; 27 subsequently underwent frontalis suspension after 6–9 months. At a reported mean follow-up of 18 months, postoperative margin reflex distance 1 was 3.8 ± 0.5 mm; palpebral fissure height was 7.8 ± 0.9 mm in right eyes and 7.3 ± 0.8 mm in left eyes. The evaluable sample for each measurement was not stated. Paired baseline measurements, visual acuity change, amblyopia treatment outcomes, validated patient-reported outcomes and molecular testing results were unavailable for this revision.Conclusions: The available summary describes postoperative eyelid position but cannot establish functional benefit or superiority of a surgical sequence. Clinical management should prioritize visual development and individual anatomy. Genotype–phenotype predictions, especially for ovarian function, require cautious counseling.

IP International Journal of Ocular Oncology and OculoplastyVol. 12(3)
Good health and well-being
Openalex Percentile: Top 15%
Ocular Disorders and Treatments
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Blepharophimosis ptosis epicanthus inversus syndrome clinical review and institutional case series — Pranami Dewan, Mehul Shah, et al. · IP International Journal of Ocular Oncology and Oculoplasty (2026) | TGRS Research Map | TGRS